diff --git a/.travis.yml b/.travis.yml
index 4569f903..95437054 100644
--- a/.travis.yml
+++ b/.travis.yml
@@ -20,7 +20,7 @@ script:
   - pnpm run test
 before_deploy:
   - pnpm run build
-  - mv dist/index.html dist/vip-report-template.html
+  - mv dist/vip-template-6.2.0-str-poc.html dist/vip-report-template.html
 deploy:
   - provider: npm
     api_token:
diff --git a/package.json b/package.json
index 71241cf6..5b55c848 100644
--- a/package.json
+++ b/package.json
@@ -1,6 +1,6 @@
 {
   "name": "@molgenis/vip-report-template",
-  "version": "6.2.0",
+  "version": "6.2.0-str-poc",
   "description": "Report Template for Variant Call Format (VCF) Report Generator",
   "scripts": {
     "build": "vite build",
@@ -36,8 +36,8 @@
   "dependencies": {
     "@fortawesome/fontawesome-svg-core": "^6.5.2",
     "@fortawesome/free-solid-svg-icons": "^6.5.2",
-    "@molgenis/vip-report-api": "^5.0.4",
-    "@molgenis/vip-report-vcf": "^2.0.2",
+    "@molgenis/vip-report-api": "link:C:/Users/bartc/WebstormProjects/vip-report-api/",
+    "@molgenis/vip-report-vcf": "link:C:/Users/bartc/WebstormProjects/vip-report-vcf/",
     "@solidjs/router": "^0.13.5",
     "base64-js": "^1.5.1",
     "igv": "^2.15.11",
diff --git a/pnpm-lock.yaml b/pnpm-lock.yaml
index e2dbb27e..2b49ce0b 100644
--- a/pnpm-lock.yaml
+++ b/pnpm-lock.yaml
@@ -8,11 +8,11 @@ dependencies:
     specifier: ^6.5.2
     version: 6.5.2
   '@molgenis/vip-report-api':
-    specifier: ^5.0.4
-    version: 5.1.0
+    specifier: link:C:/Users/bartc/WebstormProjects/vip-report-api/
+    version: link:../vip-report-api
   '@molgenis/vip-report-vcf':
-    specifier: ^2.0.2
-    version: 2.0.2
+    specifier: link:C:/Users/bartc/WebstormProjects/vip-report-vcf/
+    version: link:../vip-report-vcf
   '@solidjs/router':
     specifier: ^0.13.5
     version: 0.13.5(solid-js@1.8.17)
@@ -673,16 +673,6 @@ packages:
       '@jridgewell/sourcemap-codec': 1.4.15
     dev: true
 
-  /@molgenis/vip-report-api@5.1.0:
-    resolution: {integrity: sha512-lJoQejesLemsQApHzHNEHfWM0WHIzgQo8mVa3cc/hWkIX3fgsSGgeTFZOiklyNaBvFd3IrrCv0aCOYpKovsNFQ==}
-    dependencies:
-      '@molgenis/vip-report-vcf': 2.0.2
-    dev: false
-
-  /@molgenis/vip-report-vcf@2.0.2:
-    resolution: {integrity: sha512-Jykui54hW69ZoimqDgVSlDwFZbDMAkMGmJMn4Gsj22xNILfmDRL2M9dWmeO9KVSZDJaylN8mNo82GanN5gRPGw==}
-    dev: false
-
   /@molgenis/vite-plugin-inline@1.0.24(vite@5.2.12):
     resolution: {integrity: sha512-fR3MTbO0Mb0xYs2+GRDGglTue2S6eoWn7oUHGB5YsgWJANsYolKYeQTCwHsGrInXCI6364ALSmspQmEGCz7Lpg==}
     peerDependencies:
diff --git a/src/assets/sass/main.scss b/src/assets/sass/main.scss
index 4dcc8950..08e2a22b 100644
--- a/src/assets/sass/main.scss
+++ b/src/assets/sass/main.scss
@@ -85,4 +85,7 @@ table.is-borderless td,
   margin-top: 8px;
   overflow-y: auto;
   max-height: calc(100vh - 78px) !important;
-}
\ No newline at end of file
+}
+
+table.alternating tr:nth-child(even) {background-color: #DCDCDC;}
+table.not_alternating tr {background-color: transparent;}
\ No newline at end of file
diff --git a/src/components/InfoCollapsablePane.tsx b/src/components/InfoCollapsablePane.tsx
index fc94d590..dd42498c 100644
--- a/src/components/InfoCollapsablePane.tsx
+++ b/src/components/InfoCollapsablePane.tsx
@@ -7,6 +7,7 @@ import { Info } from "./record/Info";
 import { FieldValue } from "./record/field/Field";
 import { isCsqInfo } from "../utils/csqUtils";
 import { useLocation, A } from "@solidjs/router";
+import { FieldHeader } from "./FieldHeader";
 
 export const InfoCollapsablePane: Component<{
   fields: FieldMetadata[];
@@ -14,7 +15,7 @@ export const InfoCollapsablePane: Component<{
   htsFileMeta: HtsFileMetadata;
   isPossibleCompound?: boolean;
 }> = (props) => {
-  const [collapsed, setCollapsed]: Signal<boolean> = createSignal(false);
+  const [collapsed, setCollapsed]: Signal<boolean> = createSignal(true);
 
   function toggleCollapse() {
     setCollapsed(!collapsed());
@@ -53,6 +54,7 @@ export const InfoCollapsablePane: Component<{
       <For each={props.fields}>
         {(field, i) => (
           <td>
+            <FieldHeader field={field} />
             <For each={values()[i()]}>
               {(value, j) => (
                 <>
diff --git a/src/components/VariantsSampleTable.tsx b/src/components/VariantsSampleTable.tsx
index f7363d73..f200ca79 100644
--- a/src/components/VariantsSampleTable.tsx
+++ b/src/components/VariantsSampleTable.tsx
@@ -5,10 +5,9 @@ import { Pos } from "./record/Pos";
 import { HtsFileMetadata, Item, Sample } from "@molgenis/vip-report-api/src/Api";
 import { GenotypeField } from "./record/format/GenotypeField";
 import { InfoCollapsablePane } from "./InfoCollapsablePane";
-import { Component, createMemo, createSignal, For, onMount, Show } from "solid-js";
+import { Component, createMemo, createSignal, For, Match, onMount, Show, Switch } from "solid-js";
 import { A } from "@solidjs/router";
 import { FieldMetadata } from "@molgenis/vip-report-vcf/src/MetadataParser";
-import { FieldHeader } from "./FieldHeader";
 import { Abbr } from "./Abbr";
 import { abbreviateHeader } from "../utils/field";
 import {
@@ -19,6 +18,8 @@ import {
   getSampleMother,
   getSampleSexLabel,
 } from "../utils/sample";
+import { Info } from "./record/Info";
+import { Format } from "./record/Format";
 
 export const VariantsSampleTable: Component<{
   item: Item<Sample>;
@@ -50,7 +51,7 @@ export const VariantsSampleTable: Component<{
     <div style={{ display: "grid" }}>
       {/* workaround for https://github.com/jgthms/bulma/issues/2572#issuecomment-523099776 */}
       <div class="table-container">
-        <table class="table is-narrow">
+        <table class="table is-narrow alternating">
           <thead>
             <tr>
               <th>Position</th>
@@ -83,9 +84,7 @@ export const VariantsSampleTable: Component<{
                   </th>
                 )}
               </For>
-              {/* column containing collapse/expand icon */}
-              <th />
-              <For each={props.nestedFields}>{(field) => <FieldHeader field={field} />}</For>
+              <th colSpan={props.nestedFields.length + 1}>Information</th>
             </tr>
           </thead>
           <tbody>
@@ -105,14 +104,39 @@ export const VariantsSampleTable: Component<{
                   <Show when={proband()} keyed>
                     {(proband) => (
                       <td>
-                        <GenotypeField
-                          genotype={record.data.s[proband.index]["GT"] as Genotype}
-                          refAllele={record.data.r}
-                          altAlleles={record.data.a}
-                          isAbbreviate={true}
-                          allelicBalance={record.data.s[proband.index]["VIAB"] as number | undefined | null}
-                          readDepth={record.data.s[proband.index]["DP"] as number | undefined}
-                        />
+                        <Switch fallback={<td>Huh?</td>}>
+                          <Match when={record.data.n["SVTYPE"] !== "STR"}>
+                            <GenotypeField
+                              genotype={record.data.s[proband.index]["GT"] as Genotype}
+                              refAllele={record.data.r}
+                              altAlleles={record.data.a}
+                              isAbbreviate={true}
+                              allelicBalance={record.data.s[proband.index]["VIAB"] as number | undefined | null}
+                              readDepth={record.data.s[proband.index]["DP"] as number | undefined}
+                            />
+                          </Match>
+                          <Match when={record.data.n["SVTYPE"] === "STR"}>
+                            <Format
+                              format={record.data.s[proband.index]["AC"]}
+                              formatMetadata={props.recordsMetadata.format["AC"]}
+                              record={record}
+                              isAbbreviate={false}
+                              allelicBalance={record.data.s[proband.index]["VIAB"] as number | undefined | null}
+                              readDepth={record.data.s[proband.index]["DP"] as number | undefined}
+                            />
+                            <br />
+                            (
+                            <Format
+                              format={record.data.s[proband.index]["ACR"]}
+                              formatMetadata={props.recordsMetadata.format["ACR"]}
+                              record={record}
+                              isAbbreviate={false}
+                              allelicBalance={record.data.s[proband.index]["VIAB"] as number | undefined | null}
+                              readDepth={record.data.s[proband.index]["DP"] as number | undefined}
+                            />
+                            )
+                          </Match>
+                        </Switch>
                       </td>
                     )}
                   </Show>
@@ -160,19 +184,82 @@ export const VariantsSampleTable: Component<{
                       </>
                     )}
                   </For>
-                  <Show when={proband()} keyed>
-                    {(proband) => (
-                      <InfoCollapsablePane
-                        fields={props.nestedFields}
-                        record={record}
-                        htsFileMeta={props.htsFileMeta}
-                        isPossibleCompound={
-                          record.data.s[proband.index]["VIC"] !== null &&
-                          record.data.s[proband.index]["VIC"] !== undefined
-                        }
-                      />
-                    )}
-                  </Show>
+                  <Switch fallback={<td>Huh?</td>}>
+                    <Match when={record.data.n["SVTYPE"] !== "STR"}>
+                      <Show when={proband()} keyed>
+                        {(proband) => (
+                          <td>
+                            <InfoCollapsablePane
+                              fields={props.nestedFields}
+                              record={record}
+                              htsFileMeta={props.htsFileMeta}
+                              isPossibleCompound={
+                                record.data.s[proband.index]["VIC"] !== null &&
+                                record.data.s[proband.index]["VIC"] !== undefined
+                              }
+                            />
+                          </td>
+                        )}
+                      </Show>
+                    </Match>
+                    <Match when={record.data.n["SVTYPE"] === "STR"}>
+                      <td>
+                        <div class="columns">
+                          <div class="column is-one-third">
+                            <b>Gene ID: </b>
+                            <Info
+                              info={{ value: record.data.n["Gene_id"], record: record }}
+                              infoMeta={props.recordsMetadata.info["Gene_id"]}
+                              context={{}}
+                            />
+                            <br />
+                            <b>Normal maximum: </b>
+                            <Info
+                              info={{ value: record.data.n["NormalMax"], record: record }}
+                              infoMeta={props.recordsMetadata.info["NormalMax"]}
+                              context={{}}
+                            />
+                          </div>
+                          <div class="column is-one-third">
+                            <b>Locus ID: </b>
+                            <Info
+                              info={{ value: record.data.n["Repeat_id"], record: record }}
+                              infoMeta={props.recordsMetadata.info["Repeat_id"]}
+                              context={{}}
+                            />
+                            <br />
+                            <b>Pathogenic minimum: </b>
+                            <Info
+                              info={{ value: record.data.n["PathogenicMin"], record: record }}
+                              infoMeta={props.recordsMetadata.info["PathogenicMin"]}
+                              context={{}}
+                            />
+                          </div>
+                          <div class="column is-one-third">
+                            <b>Disease: </b>
+                            <Info
+                              info={{ value: record.data.n["Disease"], record: record }}
+                              infoMeta={props.recordsMetadata.info["Disease"]}
+                              context={{}}
+                            />
+                            <br />
+                            <b>Called repeat / catalog repeat: </b>
+                            <Info
+                              info={{ value: record.data.n["RU"], record: record }}
+                              infoMeta={props.recordsMetadata.info["RU"]}
+                              context={{}}
+                            />{" "}
+                            /{" "}
+                            <Info
+                              info={{ value: record.data.n["repeat_unit"], record: record }}
+                              infoMeta={props.recordsMetadata.info["repeat_unit"]}
+                              context={{}}
+                            />
+                          </div>
+                        </div>
+                      </td>
+                    </Match>
+                  </Switch>
                 </tr>
               )}
             </For>
diff --git a/src/components/record/field/FieldSingleValue.tsx b/src/components/record/field/FieldSingleValue.tsx
index 72f35ea6..9d4b922a 100644
--- a/src/components/record/field/FieldSingleValue.tsx
+++ b/src/components/record/field/FieldSingleValue.tsx
@@ -15,7 +15,7 @@ export const FieldSingleValue: Component<{
   const type = () => props.infoMetadata.type;
   return (
     <Switch fallback={<Error error={`invalid info type ${type()}`} />}>
-      <Match when={type() === "CATEGORICAL" || type() === "STRING"}>
+      <Match when={type() === "CATEGORICAL" || type() === "STRING" || type() === "RANGE"}>
         <FieldValueString value={props.info as string} />
       </Match>
       <Match when={type() === "CHARACTER"}>
diff --git a/src/mocks/GRCh37/decisionTree.json b/src/mocks/GRCh37/decisionTree.json
index eff7c5c5..cf27b871 100644
--- a/src/mocks/GRCh37/decisionTree.json
+++ b/src/mocks/GRCh37/decisionTree.json
@@ -2,8 +2,8 @@
   "rootNode": "filter",
   "nodes": {
     "filter": {
+      "description": "Filter pass",
       "type": "BOOL",
-      "description": "All filters passed",
       "query": {
         "field": "FILTER",
         "operator": "==",
@@ -15,60 +15,15 @@
         "nextNode": "vkgl"
       },
       "outcomeFalse": {
-        "nextNode": "exit_lq"
+        "nextNode": "exit_rm"
       },
       "outcomeMissing": {
         "nextNode": "vkgl"
       }
     },
-    "spliceAI": {
-      "type": "BOOL_MULTI",
-      "fields": [
-        "INFO/CSQ/SpliceAI_pred_DS_AG",
-        "INFO/CSQ/SpliceAI_pred_DS_AL",
-        "INFO/CSQ/SpliceAI_pred_DS_DG",
-        "INFO/CSQ/SpliceAI_pred_DS_DL"
-      ],
-      "outcomes": [
-        {
-          "operator": "OR",
-          "queries": [
-            {
-              "field": "INFO/CSQ/SpliceAI_pred_DS_AG",
-              "operator": ">",
-              "value": 0.42
-            },
-            {
-              "field": "INFO/CSQ/SpliceAI_pred_DS_AL",
-              "operator": ">",
-              "value": 0.42
-            },
-            {
-              "field": "INFO/CSQ/SpliceAI_pred_DS_DG",
-              "operator": ">",
-              "value": 0.42
-            },
-            {
-              "field": "INFO/CSQ/SpliceAI_pred_DS_DL",
-              "operator": ">",
-              "value": 0.42
-            }
-          ],
-          "outcomeTrue": {
-            "nextNode": "exit_lp"
-          }
-        }
-      ],
-      "outcomeDefault": {
-        "nextNode": "annotSV"
-      },
-      "outcomeMissing": {
-        "nextNode": "annotSV"
-      }
-    },
     "vkgl": {
-      "type": "CATEGORICAL",
       "description": "VKGL classification",
+      "type": "CATEGORICAL",
       "field": "INFO/CSQ/VKGL_CL",
       "outcomeMap": {
         "P": {
@@ -77,6 +32,9 @@
         "LP": {
           "nextNode": "exit_lp"
         },
+        "VUS": {
+          "nextNode": "clinVar"
+        },
         "LB": {
           "nextNode": "exit_lb"
         },
@@ -91,264 +49,388 @@
         "nextNode": "clinVar"
       }
     },
-    "annotSV": {
-      "type": "CATEGORICAL",
-      "description": "VKGL classification",
-      "field": "INFO/CSQ/ASV_ACMG_class",
-      "outcomeMap": {
-        "5": {
-          "nextNode": "exit_p"
-        },
-        "4": {
-          "nextNode": "exit_lp"
-        },
-        "2": {
-          "nextNode": "exit_lb"
-        },
-        "1": {
-          "nextNode": "exit_b"
-        }
-      },
-      "outcomeMissing": {
-        "nextNode": "impact"
-      },
-      "outcomeDefault": {
-        "nextNode": "impact"
-      }
-    },
-    "gnomad": {
+    "clinVar": {
+      "description": "ClinVar classification",
       "type": "BOOL_MULTI",
-      "description": "gnomAD_AF < 0.02 && gnomAD_HN < 5",
       "fields": [
-        "INFO/CSQ/gnomAD_AF",
-        "INFO/CSQ/gnomAD_HN"
+        "INFO/CSQ/clinVar_CLNSIG"
       ],
       "outcomes": [
         {
-          "operator": "OR",
+          "description": "Conflict",
           "queries": [
             {
-              "field": "INFO/CSQ/gnomAD_AF",
-              "operator": ">=",
-              "value": 0.02
-            },
-            {
-              "field": "INFO/CSQ/gnomAD_HN",
-              "operator": ">=",
-              "value": 5
+              "field": "INFO/CSQ/clinVar_CLNSIG",
+              "operator": "contains_any",
+              "value": [ "Conflicting_interpretations_of_pathogenicity" ]
             }
           ],
           "outcomeTrue": {
-            "nextNode": "exit_lb"
+            "nextNode": "chrom"
           }
-        }
-      ],
-      "outcomeDefault": {
-        "nextNode": "effect"
-      },
-      "outcomeMissing": {
-        "nextNode": "effect"
-      }
-    },
-    "effect": {
-      "type": "BOOL",
-      "description": "Consequence contains 'missense'",
-      "query": {
-        "field": "INFO/CSQ/Consequence",
-        "operator": "contains",
-        "value": "missense_variant"
-      },
-      "outcomeTrue": {
-        "nextNode": "sift"
-      },
-      "outcomeFalse": {
-        "nextNode": "spliceAI"
-      },
-      "outcomeMissing": {
-        "nextNode": "spliceAI"
-      }
-    },
-    "clinVar": {
-      "type": "BOOL_MULTI",
-      "fields": [
-        "INFO/CSQ/CLIN_SIG"
-      ],
-      "outcomes": [
+        },
         {
+          "description": "LP/P",
           "queries": [
             {
-              "field": "INFO/CSQ/CLIN_SIG",
+              "field": "INFO/CSQ/clinVar_CLNSIG",
               "operator": "contains_any",
-              "value": [
-                "conflicting_interpretations_of_pathogenicity",
-                "conflicting_data_from_submitters",
-                "uncertain_significance"
-              ]
+              "value": [ "Likely_pathogenic", "Pathogenic" ]
             }
           ],
           "outcomeTrue": {
-            "nextNode": "gnomad"
+            "nextNode": "exit_lp"
           }
         },
         {
+          "description": "VUS",
           "queries": [
             {
-              "field": "INFO/CSQ/CLIN_SIG",
+              "field": "INFO/CSQ/clinVar_CLNSIG",
               "operator": "contains_any",
-              "value": [
-                "likely_benign",
-                "benign"
-              ]
+              "value": [ "Uncertain_significance" ]
             }
           ],
           "outcomeTrue": {
-            "nextNode": "exit_lb"
+            "nextNode": "chrom"
           }
         },
         {
+          "description": "B/LB",
           "queries": [
             {
-              "field": "INFO/CSQ/CLIN_SIG",
+              "field": "INFO/CSQ/clinVar_CLNSIG",
               "operator": "contains_any",
-              "value": [
-                "likely_pathogenic",
-                "pathogenic"
-              ]
+              "value": [ "Likely_benign", "Benign" ]
             }
           ],
           "outcomeTrue": {
-            "nextNode": "exit_lp"
+            "nextNode": "exit_lb"
           }
         }
       ],
       "outcomeDefault": {
-        "nextNode": "gnomad"
+        "nextNode": "chrom"
       },
       "outcomeMissing": {
-        "nextNode": "gnomad"
+        "nextNode": "chrom"
       }
     },
-    "sift": {
-      "description": "SIFT qualitative prediction",
+    "chrom": {
+      "description": "Chromosome 1-22-X-Y-MT",
       "type": "BOOL",
       "query": {
-        "field": "INFO/CSQ/SIFT",
-        "operator": "<",
-        "value": 0.05
+        "field": "#CHROM",
+        "operator": "in",
+        "value": [
+          "chr1",
+          "chr2",
+          "chr3",
+          "chr4",
+          "chr5",
+          "chr6",
+          "chr7",
+          "chr8",
+          "chr9",
+          "chr10",
+          "chr11",
+          "chr12",
+          "chr13",
+          "chr14",
+          "chr15",
+          "chr16",
+          "chr17",
+          "chr18",
+          "chr19",
+          "chr20",
+          "chr21",
+          "chr22",
+          "chrX",
+          "chrY",
+          "chrM"
+        ]
       },
       "outcomeTrue": {
-        "nextNode": "exit_lp"
+        "nextNode": "gene"
       },
       "outcomeFalse": {
-        "nextNode": "polyphen"
+        "nextNode": "exit_rm"
       },
       "outcomeMissing": {
-        "nextNode": "polyphen"
+        "nextNode": "gene"
       }
     },
-    "polyphen": {
-      "description": "PolyPhen qualitative prediction",
+    "gene": {
+      "description": "Gene exists",
+      "type": "EXISTS",
+      "field": "INFO/CSQ/Gene",
+      "outcomeTrue": {
+        "nextNode": "gnomAD"
+      },
+      "outcomeFalse": {
+        "nextNode": "gnomAD"
+      }
+    },
+    "sv": {
+      "description": "Structural Variant?",
+      "type": "EXISTS",
+      "field": "INFO/SVTYPE",
+      "outcomeTrue": {
+        "nextNode": "str"
+      },
+      "outcomeFalse": {
+        "nextNode": "spliceAI"
+      }
+    },
+    "str": {
+      "description": "Short tandem repeat?",
+      "type": "BOOL",
+      "query": {
+        "field": "INFO/SVTYPE",
+        "operator": "==",
+        "value": "STR"
+      },
+      "outcomeTrue": {
+        "nextNode": "str_sequence"
+      },
+      "outcomeFalse": {
+        "nextNode": "annotSV"
+      },
+      "outcomeMissing": {
+        "nextNode": "annotSV"
+      }
+    },
+    "str_sequence": {
+      "description": "STR sequence matches requested repeat unit",
+      "type": "BOOL",
+      "query": {
+        "field": "INFO/repeat_unit",
+        "operator": "eq_seq",
+        "value": "field:INFO/RU"
+      },
+      "outcomeTrue": {
+        "nextNode": "exit_str"
+      },
+      "outcomeMissing": {
+        "nextNode": "exit_vus"
+      },
+      "outcomeFalse": {
+        "nextNode": "exit_vus"
+      }
+    },
+    "gnomAD": {
+      "description": "gnomAD QC filter failure",
+      "type": "EXISTS",
+      "field": "INFO/CSQ/gnomAD_QC",
+      "outcomeTrue": {
+        "nextNode": "sv"
+      },
+      "outcomeFalse": {
+        "nextNode": "gnomAD_AF"
+      }
+    },
+    "gnomAD_AF": {
+      "description": "gnomAD",
       "type": "BOOL_MULTI",
       "fields": [
-        "INFO/CSQ/PolyPhen"
+        "INFO/CSQ/gnomAD_FAF99",
+        "INFO/CSQ/gnomAD_HN"
       ],
       "outcomes": [
         {
+          "description": "Filtering allele Frequency (99% confidence) >= 0.02 or Number of Homozygotes > 5",
+          "operator": "OR",
           "queries": [
             {
-              "field": "INFO/CSQ/PolyPhen",
-              "operator": "<",
-              "value": 0.15
+              "field": "INFO/CSQ/gnomAD_FAF99",
+              "operator": ">=",
+              "value": 0.02
+            },
+            {
+              "field": "INFO/CSQ/gnomAD_HN",
+              "operator": ">=",
+              "value": 5
             }
           ],
           "outcomeTrue": {
             "nextNode": "exit_lb"
           }
+        }
+      ],
+      "outcomeDefault": {
+        "nextNode": "sv"
+      },
+      "outcomeMissing": {
+        "nextNode": "sv"
+      }
+    },
+    "annotSV": {
+      "description": "AnnotSV classification",
+      "type": "CATEGORICAL",
+      "field": "INFO/CSQ/ASV_ACMG_class",
+      "outcomeMap": {
+        "5": {
+          "nextNode": "exit_p"
+        },
+        "4": {
+          "nextNode": "exit_lp"
+        },
+        "3": {
+          "nextNode": "exit_vus"
         },
+        "2": {
+          "nextNode": "exit_lb"
+        },
+        "1": {
+          "nextNode": "exit_b"
+        }
+      },
+      "outcomeMissing": {
+        "nextNode": "spliceAI"
+      },
+      "outcomeDefault": {
+        "nextNode": "spliceAI"
+      }
+    },
+    "spliceAI": {
+      "description": "SpliceAI prediction",
+      "type": "BOOL_MULTI",
+      "fields": [
+        "INFO/CSQ/SpliceAI_pred_DS_AG",
+        "INFO/CSQ/SpliceAI_pred_DS_AL",
+        "INFO/CSQ/SpliceAI_pred_DS_DG",
+        "INFO/CSQ/SpliceAI_pred_DS_DL"
+      ],
+      "outcomes": [
         {
-          "operator": "AND",
+          "description": "Delta score (acceptor/donor gain/loss) > 0.42",
+          "operator": "OR",
           "queries": [
             {
-              "field": "INFO/CSQ/PolyPhen",
+              "field": "INFO/CSQ/SpliceAI_pred_DS_AG",
               "operator": ">",
-              "value": 0.15
+              "value": 0.42
+            },
+            {
+              "field": "INFO/CSQ/SpliceAI_pred_DS_AL",
+              "operator": ">",
+              "value": 0.42
             },
             {
-              "field": "INFO/CSQ/PolyPhen",
-              "operator": "<",
-              "value": 0.85
+              "field": "INFO/CSQ/SpliceAI_pred_DS_DG",
+              "operator": ">",
+              "value": 0.42
+            },
+            {
+              "field": "INFO/CSQ/SpliceAI_pred_DS_DL",
+              "operator": ">",
+              "value": 0.42
             }
           ],
           "outcomeTrue": {
-            "nextNode": "exit_vus"
+            "nextNode": "exit_lp"
           }
         },
         {
+          "description": "Delta score (acceptor/donor gain/loss) > 0.13",
+          "operator": "OR",
           "queries": [
             {
-              "field": "INFO/CSQ/PolyPhen",
+              "field": "INFO/CSQ/SpliceAI_pred_DS_AG",
+              "operator": ">",
+              "value": 0.13
+            },
+            {
+              "field": "INFO/CSQ/SpliceAI_pred_DS_AL",
+              "operator": ">",
+              "value": 0.13
+            },
+            {
+              "field": "INFO/CSQ/SpliceAI_pred_DS_DG",
               "operator": ">",
-              "value": 0.85
+              "value": 0.13
+            },
+            {
+              "field": "INFO/CSQ/SpliceAI_pred_DS_DL",
+              "operator": ">",
+              "value": 0.13
             }
           ],
           "outcomeTrue": {
-            "nextNode": "exit_lp"
+            "nextNode": "exit_vus"
           }
         }
       ],
       "outcomeDefault": {
-        "nextNode": "impact"
+        "nextNode": "utr5"
       },
       "outcomeMissing": {
-        "nextNode": "impact"
+        "nextNode": "utr5"
       }
     },
-    "impact": {
-      "type": "CATEGORICAL",
-      "description": "IMPACT rating",
-      "field": "INFO/CSQ/IMPACT",
-      "outcomeMap": {
-        "MODIFIER": {
-          "nextNode": "exit_lb"
-        },
-        "LOW": {
-          "nextNode": "exit_lb"
-        },
-        "MODERATE": {
-          "nextNode": "exit_vus"
-        },
-        "HIGH": {
-          "nextNode": "exit_lp"
-        }
+    "utr5": {
+      "description": "5' UTR",
+      "type": "EXISTS",
+      "field": "INFO/CSQ/five_prime_UTR_variant_consequence",
+      "outcomeTrue": {
+        "nextNode": "exit_vus"
+      },
+      "outcomeFalse": {
+        "nextNode": "capice"
+      }
+    },
+    "capice": {
+      "description": "CAPICE prediction > 0.5",
+      "type": "BOOL",
+      "query": {
+        "field": "INFO/CSQ/CAPICE_SC",
+        "operator": ">",
+        "value": 0.5
+      },
+      "outcomeTrue": {
+        "nextNode": "exit_lp"
+      },
+      "outcomeFalse": {
+        "nextNode": "exit_lb"
       },
       "outcomeMissing": {
         "nextNode": "exit_vus"
       }
     },
-    "exit_lq": {
-      "description": "Low quality variants.",
+    "exit_rm": {
+      "description": "Remove",
       "type": "LEAF",
       "class": "LQ"
     },
     "exit_b": {
+      "description": "Benign",
       "type": "LEAF",
       "class": "B"
     },
     "exit_lb": {
+      "description": "Likely Benign",
       "type": "LEAF",
       "class": "LB"
     },
     "exit_vus": {
+      "description": "Uncertain Significance",
       "type": "LEAF",
       "class": "VUS"
     },
     "exit_lp": {
+      "description": "Likely Pathogenic",
       "type": "LEAF",
       "class": "LP"
     },
     "exit_p": {
+      "description": "Pathogenic",
       "type": "LEAF",
       "class": "P"
+    },
+    "exit_str": {
+      "description": "Short Tandem Repeat - pathogenicity based on sample info",
+      "type": "LEAF",
+      "class": "s"
     }
   }
 }
diff --git a/src/mocks/GRCh37/field_metadata.json b/src/mocks/GRCh37/field_metadata.json
index 316f0a50..e6e76540 100644
--- a/src/mocks/GRCh37/field_metadata.json
+++ b/src/mocks/GRCh37/field_metadata.json
@@ -16,9 +16,28 @@
         "YL",
         "MT"
       ]
+    },
+    "ACR": {
+      "label": "Allelic copy ranges",
+      "description": "Straglr: Allelic copy ranges",
+      "numberType": "PER_GENOTYPE",
+      "type": "RANGE"
+    },
+    "AC": {
+      "label": "Allelic copies",
+      "description": "Straglr: Allelic copies",
+      "numberType": "PER_GENOTYPE",
+      "type": "FLOAT"
     }
   },
   "info": {
+    "PathogenicMin": {
+      "field": {
+        "numberType": "NUMBER",
+        "numberCount": 1,
+        "type": "FLOAT"
+      }
+    },
     "CSQ": {
       "nestedFields": {
         "ALLELE_NUM": {
@@ -151,6 +170,48 @@
           "separator": "&",
           "type": "STRING"
         },
+        "FATHMM_MKL_NC": {
+          "label": "FATHMM-MKL-NC",
+          "description": "Predict the Functional Consequences of Non-Coding Single Nucleotide Variants (SNVs)",
+          "numberType": "NUMBER",
+          "numberCount": 1,
+          "type": "FLOAT"
+        },
+        "GDB_PRO": {
+          "label": "GDB_PRO",
+          "description": "Highest GREEN-DB constraint score for overlapping promotor regions.",
+          "numberType": "NUMBER",
+          "numberCount": 1,
+          "type": "FLOAT"
+        },
+        "GDB_ENH": {
+          "label": "GDB_ENH",
+          "description": "Highest GREEN-DB constraint score for overlapping enhancer regions.",
+          "numberType": "NUMBER",
+          "numberCount": 1,
+          "type": "FLOAT"
+        },
+        "GDB_BIV": {
+          "label": "GDB_BIV",
+          "description": "Highest GREEN-DB constraint score for overlapping bivalent regions.",
+          "numberType": "NUMBER",
+          "numberCount": 1,
+          "type": "FLOAT"
+        },
+        "GDB_SIL": {
+          "label": "GDB_SIL",
+          "description": "Highest GREEN-DB constraint score for overlapping silencer regions.",
+          "numberType": "NUMBER",
+          "numberCount": 1,
+          "type": "FLOAT"
+        },
+        "GDB_INS": {
+          "label": "GDB_INS",
+          "description": "Highest GREEN-DB constraint score for overlapping insulater regions.",
+          "numberType": "NUMBER",
+          "numberCount": 1,
+          "type": "FLOAT"
+        },
         "Feature_type": {
           "label": "Feature Type.",
           "description": "The VEP feature type",
@@ -341,6 +402,13 @@
           "separator": "&",
           "type": "INTEGER"
         },
+        "ReMM": {
+          "label": "ReMM",
+          "description": "The Regulatory Mendelian Mutation (ReMM) score was created for relevance prediction of non-coding variations (SNVs and small InDels) in the human genome (hg19) in terms of Mendelian diseases.",
+          "numberType": "NUMBER",
+          "numberCount": 1,
+          "type": "FLOAT"
+        },
         "SIFT": {
           "label": "SIFT",
           "description": "SIFT score.",
@@ -405,13 +473,6 @@
           "type": "STRING",
           "required": true
         },
-        "VIPL": {
-          "label": "VIP labels",
-          "description": "VIP decision tree labels",
-          "numberType": "NUMBER",
-          "numberCount": 1,
-          "type": "STRING"
-        },
         "VIPP": {
           "label": "VIP path",
           "description": "VIP decision tree path",
diff --git a/src/mocks/GRCh37/sampleTree.json b/src/mocks/GRCh37/sampleTree.json
index 2826ec94..c7ef8219 100644
--- a/src/mocks/GRCh37/sampleTree.json
+++ b/src/mocks/GRCh37/sampleTree.json
@@ -1,7 +1,25 @@
 {
-  "rootNode": "gt",
+  "rootNode": "vipc",
   "nodes": {
-    "GT": {
+    "vipc": {
+      "type": "BOOL",
+      "description": "Genotype quality",
+      "query": {
+        "field": "INFO/CSQ/VIPC",
+        "operator": "==",
+        "value": "s"
+      },
+      "outcomeTrue": {
+        "nextNode": "str_pathogenic_min"
+      },
+      "outcomeFalse": {
+        "nextNode": "gt"
+      },
+      "outcomeMissing": {
+        "nextNode": "gt"
+      }
+    },
+    "gt": {
       "description": "Genotype",
       "type": "CATEGORICAL",
       "field": "FORMAT/GENOTYPE/TYPE",
@@ -32,7 +50,7 @@
         "nextNode": "gq"
       }
     },
-    "GQ": {
+    "gq": {
       "type": "BOOL",
       "description": "Genotype quality",
       "query": {
@@ -40,24 +58,6 @@
         "operator": ">=",
         "value": 20
       },
-      "outcomeTrue": {
-        "nextNode": "dp"
-      },
-      "outcomeFalse": {
-        "nextNode": "exit_u3"
-      },
-      "outcomeMissing": {
-        "nextNode": "dp"
-      }
-    },
-    "DP": {
-      "type": "BOOL",
-      "description": "Sequencing depth",
-      "query": {
-        "field": "FORMAT/DP",
-        "operator": ">=",
-        "value": 10
-      },
       "outcomeTrue": {
         "nextNode": "vim"
       },
@@ -68,7 +68,7 @@
         "nextNode": "vim"
       }
     },
-    "VIM": {
+    "vim": {
       "type": "BOOL",
       "description": "Inheritance match",
       "query": {
@@ -86,7 +86,7 @@
         "nextNode": "exit_u2"
       }
     },
-    "VID": {
+    "vid": {
       "type": "BOOL",
       "description": "Inheritance denovo",
       "query": {
@@ -104,6 +104,44 @@
         "nextNode": "exit_u2"
       }
     },
+    "str_pathogenic_min": {
+      "description": "Nr of repeat units above pathogenic_min",
+      "type": "BOOL",
+      "query": {
+        "multiMode": "ANY",
+        "field": "FORMAT/AC",
+        "operator": ">=",
+        "value": "field:INFO/PathogenicMin"
+      },
+      "outcomeTrue": {
+        "nextNode": "exit_lp"
+      },
+      "outcomeMissing": {
+        "nextNode": "exit_vus"
+      },
+      "outcomeFalse": {
+        "nextNode": "str_normal_max"
+      }
+    },
+    "str_normal_max": {
+      "description": "Range of repeat units below normal_max",
+      "type": "BOOL",
+      "query": {
+        "multiMode": "ANY",
+        "field": "FORMAT/ACR",
+        "operator": "range_below",
+        "value": "field:INFO/NormalMax"
+      },
+      "outcomeTrue": {
+        "nextNode": "exit_lb"
+      },
+      "outcomeMissing": {
+        "nextNode": "exit_vus"
+      },
+      "outcomeFalse": {
+        "nextNode": "exit_vus"
+      }
+    },
     "exit_u1": {
       "description": "Usable: probably",
       "type": "LEAF",
@@ -118,6 +156,21 @@
       "description": "Usable: probably not",
       "type": "LEAF",
       "class": "U3"
+    },
+    "exit_lb": {
+      "description": "STR Likely Benign",
+      "type": "LEAF",
+      "class": "LB"
+    },
+    "exit_vus": {
+      "description": "STR VUS",
+      "type": "LEAF",
+      "class": "VUS"
+    },
+    "exit_lp": {
+      "description": "STR Likely Pathogenic",
+      "type": "LEAF",
+      "class": "LP"
     }
   }
-}
\ No newline at end of file
+}
diff --git a/src/mocks/GRCh37/vcf/samples_1.vcf.blob b/src/mocks/GRCh37/vcf/samples_1.vcf.blob
index 346aa773..f5e90c63 100644
--- a/src/mocks/GRCh37/vcf/samples_1.vcf.blob
+++ b/src/mocks/GRCh37/vcf/samples_1.vcf.blob
@@ -1,24 +1,72 @@
 ##fileformat=VCFv4.2
-##ALT=<ID=DEL,Description="Deletion">
+##FILTER=<ID=PASS,Description="All filters passed">
+##ALPHSCORE=AlphScore_final scores as described in https://doi.org/10.1093/bioinformatics/btad280
 ##ASV_ACMG_class=AnnotSv 'ACMG_class' output.
 ##ASV_AnnotSV_ranking_criteria=AnnotSv 'AnnotSV_ranking_criteria' output.
 ##ASV_AnnotSV_ranking_score=AnnotSv 'AnnotSV_ranking_score' output.
 ##CAPICE_CL=CAPICE classification
 ##CAPICE_SC=CAPICE score
-##FILTER=<ID=PASS,Description="All filters passed">
+##CommandLine="cuteSV --threads 4 --batches 10000000 --sample sample0 --max_split_parts 7 --min_mapq 20 --min_read_len 500 --merge_del_threshold 0 --merge_ins_threshold 100 --min_support 10 --min_size 30 --max_size 100000 --min_siglength 10 --genotype --gt_round 500 --read_range 1000 --max_cluster_bias_INS 100 --diff_ratio_merging_INS 0.3 --max_cluster_bias_DEL 100 --diff_ratio_merging_DEL 0.3 --max_cluster_bias_INV 500 --max_cluster_bias_DUP 500 --max_cluster_bias_TRA 50 --diff_ratio_filtering_TRA 0.6 --remain_reads_ratio 1.0 FAY04760_FAY04796_fam0_sample0_validated.bam /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/GRCh38/GCA_000001405.15_GRCh38_no_alt_analysis_set.fna cutesv_output.vcf ."
+##FATHMM_MKL_NC=FATHMM_MKL_NC: Predict the Functional Consequences of Non-Coding Single Nucleotide Variants (SNVs)
+##FILTER=<ID=UNRESOLVED,Description="An insertion that is longer than the read and thus we cannot predict the full size.">
+##FILTER=<ID=q5,Description="Quality below 5">
+##FORMAT=<ID=AC,Number=.,Type=String,Description="Allelic copies">
+##FORMAT=<ID=ACR,Number=.,Type=String,Description="Allelic copy ranges">
+##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
+##FORMAT=<ID=AL,Number=.,Type=String,Description="Allelic lengths">
+##FORMAT=<ID=ALR,Number=.,Type=String,Description="Allelic length ranges">
+##FORMAT=<ID=ALT_MOTIF,Number=.,Type=String,Description="Alternate motif(s)">
+##FORMAT=<ID=CD,Number=2,Type=Float,Description="Coverage read depth">
+##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth">
+##FORMAT=<ID=DR,Number=1,Type=Integer,Description="# High-quality reference reads">
+##FORMAT=<ID=DV,Number=1,Type=Integer,Description="# High-quality variant reads">
+##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="# Genotype quality">
 ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
-##HPO=List of HPO terms for the gene
-##INFO=<ID=BND_DEPTH,Number=1,Type=Integer,Description="Read depth at local translocation breakend">
-##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|ALLELE_NUM|DISTANCE|STRAND|FLAGS|PICK|SYMBOL_SOURCE|HGNC_ID|REFSEQ_MATCH|REFSEQ_OFFSET|SOURCE|SIFT|PolyPhen|HGVS_OFFSET|CLIN_SIG|SOMATIC|PHENO|PUBMED|CHECK_REF|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS|SpliceAI_pred_DP_AG|SpliceAI_pred_DP_AL|SpliceAI_pred_DP_DG|SpliceAI_pred_DP_DL|SpliceAI_pred_DS_AG|SpliceAI_pred_DS_AL|SpliceAI_pred_DS_DG|SpliceAI_pred_DS_DL|SpliceAI_pred_SYMBOL|CAPICE_CL|CAPICE_SC|HPO|IncompletePenetrance|InheritanceModesGene|VKGL_CL|ASV_ACMG_class|ASV_AnnotSV_ranking_criteria|ASV_AnnotSV_ranking_score|gnomAD|gnomAD_AF|gnomAD_HN|VIPC|VIPP_renamed|VIPL_renamed">
-##INFO=<ID=MATEID,Number=.,Type=String,Description="ID of mate breakend">
-##INFO=<ID=MATE_BND_DEPTH,Number=1,Type=Integer,Description="Read depth at remote translocation mate breakend">
-##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles">
+##FORMAT=<ID=HO,Number=2,Type=Float,Description="Homozygosity proportion">
+##FORMAT=<ID=ID,Number=1,Type=String,Description="Population ID of supporting CNV calls">
+##FORMAT=<ID=PL,Number=G,Type=Integer,Description="# Phred-scaled genotype likelihoods rounded to the closest integer">
+##FORMAT=<ID=VI,Number=.,Type=String,Description="An enumeration of possible inheritance modes based on the pedigree of the sample. Potential values: AD, AD_IP, AR, AR_C, XLR, XLD">
+##FORMAT=<ID=VIC,Number=1,Type=String,Description="Possible Compound hetrozygote variants.">
+##FORMAT=<ID=VID,Number=1,Type=Integer,Description="De novo variant.">
+##FORMAT=<ID=VIG,Number=.,Type=String,Description="Genes with a (potential) inheritance match.">
+##FORMAT=<ID=VIM,Number=1,Type=Integer,Description="Inheritance Match: Genotypes, affected statuses and known gene inheritance patterns match.">
+##FORMAT=<ID=VIPC_S,Number=.,Type=String,Description="VIP decision tree classification.">
+##FORMAT=<ID=VIPP_S,Number=.,Type=String,Description="VIP decision tree path.">
+##Grantham=Grantham Matrix score - Grantham, R. Amino Acid Difference Formula to Help Explain Protein Evolution, Science 1974 Sep 6;185(4154):862-4.
+##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes">
+##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency.">
+##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
+##INFO=<ID=CHR2,Number=1,Type=String,Description="Chromosome for END coordinate in case of a translocation">
+##INFO=<ID=CILEN,Number=2,Type=Integer,Description="Confidence interval around inserted/deleted material between breakends">
+##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants">
+##INFO=<ID=CN,Number=1,Type=Integer,Description="Estimated copy number status">
+##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|ALLELE_NUM|DISTANCE|STRAND|FLAGS|PICK|SYMBOL_SOURCE|HGNC_ID|REFSEQ_MATCH|REFSEQ_OFFSET|SOURCE|SIFT|PolyPhen|HGVS_OFFSET|CLIN_SIG|SOMATIC|PHENO|PUBMED|CHECK_REF|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS|Grantham|SpliceAI_pred_DP_AG|SpliceAI_pred_DP_AL|SpliceAI_pred_DP_DG|SpliceAI_pred_DP_DL|SpliceAI_pred_DS_AG|SpliceAI_pred_DS_AL|SpliceAI_pred_DS_DG|SpliceAI_pred_DS_DL|SpliceAI_pred_SYMBOL|CAPICE_CL|CAPICE_SC|existing_InFrame_oORFs|existing_OutOfFrame_oORFs|existing_uORFs|five_prime_UTR_variant_annotation|five_prime_UTR_variant_consequence|IncompletePenetrance|InheritanceModesGene|VKGL|VKGL_CL|gnomAD_AF|gnomAD_COV|gnomAD_FAF95|gnomAD_FAF99|gnomAD_HN|gnomAD_QC|gnomAD_SRC|clinVar_CLNID|clinVar_CLNREVSTAT|clinVar_CLNSIG|clinVar_CLNSIGINCL|ASV_ACMG_class|ASV_AnnotSV_ranking_criteria|ASV_AnnotSV_ranking_score|ALPHSCORE|ncER|FATHMM_MKL_NC|ReMM|phyloP|VIPC|VIPP">
+##INFO=<ID=Disease,Number=1,Type=String,Description="Disease associated with the repeat.">
+##INFO=<ID=END,Number=1,Type=Integer,Description="End position of repeat">
+##INFO=<ID=Gene_id,Number=1,Type=String,Description="Gene identifier.">
+##INFO=<ID=HGNCId,Number=1,Type=String,Description="HGNC gene ID.">
+##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variant">
+##INFO=<ID=LOCUS,Number=1,Type=String,Description="Locus ID">
+##INFO=<ID=LocusStructure,Number=1,Type=String,Description="Structure of the repeat locus.">
+##INFO=<ID=NormalMax,Number=1,Type=String,Description="Normal maximum of number of repeat units.">
+##INFO=<ID=PRECISE,Number=0,Type=Flag,Description="Precise structural variant">
+##INFO=<ID=PathogenicMin,Number=1,Type=String,Description="Pathogenic minimum number of repeat units.">
+##INFO=<ID=RE,Number=1,Type=Integer,Description="Number of read support this record">
+##INFO=<ID=REF,Number=1,Type=Float,Description="Reference copy number">
+##INFO=<ID=RNAMES,Number=.,Type=String,Description="Supporting read names of SVs (comma separated)">
+##INFO=<ID=RU,Number=1,Type=String,Description="Repeat unit in the reference orientation">
+##INFO=<ID=Repeat_id,Number=1,Type=String,Description="Repeat locus identifier.">
+##INFO=<ID=STRAND,Number=A,Type=String,Description="Strand orientation of the adjacency in BEDPE format (DEL:+-, DUP:-+, INV:++/--)">
+##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="Difference in length between REF and ALT alleles">
+##INFO=<ID=SVSUPPORT,Number=1,Type=String,Description="Indicator if a SV support was found in a provided SNFJ file">
 ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
-##INFO=<ID=gnomAD,Number=.,Type=String,Description="/groups/solve-rd/tmp10/vip/resources/GRCh37/gnomad.total.r2.1.1.sites.stripped.vcf.gz (exact)">
-##INFO=<ID=gnomAD_AF,Number=.,Type=String,Description="AF field from /groups/solve-rd/tmp10/vip/resources/GRCh37/gnomad.total.r2.1.1.sites.stripped.vcf.gz">
-##INFO=<ID=gnomAD_HN,Number=.,Type=String,Description="HN field from /groups/solve-rd/tmp10/vip/resources/GRCh37/gnomad.total.r2.1.1.sites.stripped.vcf.gz">
-##IncompletePenetrance=Boolean indicating if the gene is known for incomplete penetrance.
-##InheritanceModesGene=List of inheritance modes for the gene
+##INFO=<ID=VIPC_S,Number=.,Type=String,Description="VIP decision tree classification (samples).">
+##INFO=<ID=phyloP,Number=.,Type=String,Description="[PATH]/hg38.phyloP100way.bw">
+##INFO=<ID=repeat_unit,Number=1,Type=String,Description="Catalog repeat unit.">
+##IncompletePenetrance=Boolean indicating if the gene is known for incomplete penetrance, based on  '/groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/inheritance_20240115.tsv' .
+##InheritanceModesGene=List of inheritance modes for the gene, based on  '/groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/inheritance_20240115.tsv'
+##ReMM=ReMM scores. The Regulatory Mendelian Mutation (ReMM) score was created for relevance prediction of non-coding variations (SNVs and small InDels) in the human genome (hg19) in terms of Mendelian diseases.
+##Spectre_sample=sample0
 ##SpliceAI_pred_DP_AG=SpliceAI predicted effect on splicing. Delta position for acceptor gain
 ##SpliceAI_pred_DP_AL=SpliceAI predicted effect on splicing. Delta position for acceptor loss
 ##SpliceAI_pred_DP_DG=SpliceAI predicted effect on splicing. Delta position for donor gain
@@ -28,66 +76,332 @@
 ##SpliceAI_pred_DS_DG=SpliceAI predicted effect on splicing. Delta score for donor gain
 ##SpliceAI_pred_DS_DL=SpliceAI predicted effect on splicing. Delta score for donor loss
 ##SpliceAI_pred_SYMBOL=SpliceAI gene symbol
-##VEP="v105" time="2022-03-25 12:25:50" cache="/groups/solve-rd/tmp10/vip/resources/vep/cache/homo_sapiens_refseq/105_GRCh37" ensembl-io=105.2a0a40c ensembl-variation=105.ac8178e ensembl=105.525fbcb ensembl-funcgen=105.660df8f 1000genomes="phase3" COSMIC="92" ClinVar="202012" HGMD-PUBLIC="20204" assembly="GRCh37.p13" dbSNP="154" gencode="GENCODE 19" genebuild="2011-04" gnomAD="r2.1" polyphen="2.2.2" refseq="2020-10-26 17:03:42 - GCF_000001405.25_GRCh37.p13_genomic.gff" regbuild="1.0" sift="sift5.2.2"
+##VEP-command-line='vep --allele_number --allow_non_variant --assembly GRCh38 --buffer_size 1000 --cache --compress_output bgzip --custom [PATH]/hg38.phyloP100way.bw,phyloP,bigwig,exact,0 --database 0 --dir_cache [PATH]/cache --dir_plugins [PATH]/plugins --dont_skip --exclude_predicted --fasta [PATH]/GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gz --flag_pick_allele --fork 4 --format vcf --hgvs --input_file FAY04760_FAY04796_normalized.vcf.gz --no_stats --numbers --offline --output_file FAY04760_FAY04796_annotated.vcf.gz --plugin [PATH]/GRCh38_ReMM.tsv.gz --polyphen s --pubmed --refseq --safe --shift_3prime --sift s --symbol --total_length --use_given_ref --vcf'
+##VEP="v111" time="2024-08-27 13:29:29" cache="/groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/vep/cache/homo_sapiens_refseq/111_GRCh38" ensembl=111.a6cc543 ensembl-funcgen=111.5327cdd ensembl-io=111.dbba8d6 ensembl-variation=111.d616b1e 1000genomes="phase3" COSMIC="98" ClinVar="202306" HGMD-PUBLIC="20204" assembly="GRCh38.p14" dbSNP="156" gencode="GENCODE 45" genebuild="2014-07" gnomADe="r2.1.1" gnomADg="v3.1.2" polyphen="2.2.3" refseq="GCF_000001405.40-RS_2023_03 - GCF_000001405.40_GRCh38.p14_genomic.gff" regbuild="1.0" sift="6.2.1"
 ##VIPC=VIP decision tree classification
-##VIPL=VIP decision tree labels (ampersand separated)
 ##VIPP=VIP decision tree path (ampersand separated)
-##VIP_Command=nextflow run ./main.nf --input /groups/solve-rd/tmp10/testdata/testdata_b37_1Sample.vcf --output /groups/solve-rd/tmp10/testdata_out/ --keep --probands SAMPLE0 --phenotypes 'HP:0000951' --assembly GRCh37
-##VIP_Version=4.0.1
-##VIP_treeCommand=--input testdata_b37_1Sample_chunk0_annotated.vcf.gz --config /groups/solve-rd/tmp10/vip/resources/decision_tree.json --labels 0 --path 0 --output testdata_b37_1Sample_chunk0_classified.vcf.gz
-##VIP_treeVersion=2.2.0
+##VIP_treeCommand=--input FAY04760_FAY04796_annotated.vcf.gz --metadata /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/field_metadata.json --config /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/decision_tree_GRCh38.json --path --output FAY04760_FAY04796_classified.vcf.gz
+##VIP_treeVersion=4.2.0
+##VKGL=file:/groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/GRCh38/vkgl_consensus_20240401.tsv'
 ##VKGL_CL=VKGL consensus variant classification.
-##contig=<ID=1,length=249250621,assembly=b37>
-##contig=<ID=2,length=243199373,assembly=b37>
-##contig=<ID=3,length=198022430,assembly=b37>
-##contig=<ID=4,length=191154276,assembly=b37>
-##contig=<ID=5,length=180915260,assembly=b37>
-##contig=<ID=6,length=171115067,assembly=b37>
-##contig=<ID=7,length=159138663,assembly=b37>
-##contig=<ID=8,length=146364022,assembly=b37>
-##contig=<ID=9,length=141213431,assembly=b37>
-##contig=<ID=10,length=135534747,assembly=b37>
-##contig=<ID=11,length=135006516,assembly=b37>
-##contig=<ID=12,length=133851895,assembly=b37>
-##contig=<ID=13,length=115169878,assembly=b37>
-##contig=<ID=14,length=107349540,assembly=b37>
-##contig=<ID=15,length=102531392,assembly=b37>
-##contig=<ID=16,length=90354753,assembly=b37>
-##contig=<ID=17,length=81195210,assembly=b37>
-##contig=<ID=18,length=78077248,assembly=b37>
-##contig=<ID=19,length=59128983,assembly=b37>
-##contig=<ID=20,length=63025520,assembly=b37>
-##contig=<ID=21,length=48129895,assembly=b37>
-##contig=<ID=22,length=51304566,assembly=b37>
-##contig=<ID=X,length=155270560,assembly=b37>
-##contig=<ID=Y,length=59373566,assembly=b37>
-##contig=<ID=MT,length=16569,assembly=b37>
-##fileDate=20200320
-#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	SAMPLE0
-1	10042538	.	C	T	.	PASS	CSQ=T|missense_variant|MODERATE|NMNAT1|64802|Transcript|NM_001297778.1|protein_coding|5/5||NM_001297778.1:c.619C>T|NP_001284707.1:p.Arg207Trp|778/3796|619/840|207/279|R/W|Cgg/Tgg|rs142968179&CM127756|1||1||1|EntrezGene|||||0.04|0.08||pathogenic||1&1|26103963&22842229&22842230|||||||0|-36|-16|17|0.00|0.00|0.00|0.00|NMNAT1|VUS|0.16572298|||AR|LP||||1:10042538-10042538|3.88948e-05|0|P|filter&vkgl&exit_p|,T|downstream_gene_variant|MODIFIER|NMNAT1|64802|Transcript|NM_001297779.2|protein_coding||||||||||rs142968179&CM127756|1|714|1|||EntrezGene||||||||pathogenic||1&1|26103963&22842229&22842230|||||||0|-36|-16|17|0.00|0.00|0.00|0.00|NMNAT1|VUS|0.033541594|||AR|LP||||1:10042538-10042538|3.88948e-05|0|P|filter&vkgl&exit_p|,T|missense_variant|MODERATE|NMNAT1|64802|Transcript|NM_022787.4|protein_coding|5/5||NM_022787.4:c.619C>T|NP_073624.2:p.Arg207Trp|716/3734|619/840|207/279|R/W|Cgg/Tgg|rs142968179&CM127756|1||1|||EntrezGene|||||0.04|0.08||pathogenic||1&1|26103963&22842229&22842230|||||||0|-36|-16|17|0.00|0.00|0.00|0.00|NMNAT1|VUS|0.14321531|||AR|LP||||1:10042538-10042538|3.88948e-05|0|P|filter&vkgl&exit_p|	GT	0/1
-1	16376412	n_alt	G	N	.	PASS	CSQ=N|splice_donor_variant|HIGH|CLCNKB|1188|Transcript|NM_000085.5|protein_coding||10/19||||||||CS1211892&CS971662|1||1||1|EntrezGene||||||||||1&1|||||||||||||||||VUS|0.373989|HP:0000951||AR||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,N|splice_donor_variant|HIGH|CLCNKB|1188|Transcript|NM_001165945.2|protein_coding||3/12||||||||CS1211892&CS971662|1||1|||EntrezGene||||||||||1&1|||||||||||||||||VUS|0.373989|HP:0000951||AR||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	1|0
-1	17349219	n_ref	N	A	.	PASS	CSQ=A|coding_sequence_variant|MODIFIER|SDHB|6390|Transcript|NM_003000.3|protein_coding|7/8||NM_003000.3:c.649C>T||662/1015|649/843|217/280||Ngc/Tgc|CM094752&CM1210440&COSV64965760|1||-1||1|EntrezGene|||||||||0&0&1|1&1&1|||||||||||||||||VUS|0.48189265|HP:0000951||AD&AR||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	0|0
-1	17349219	g_ref	G	A	.	PASS	CSQ=A|missense_variant|MODERATE|SDHB|6390|Transcript|NM_003000.3|protein_coding|7/8||NM_003000.3:c.649C>T|NP_002991.2:p.Arg217Cys|662/1015|649/843|217/280|R/C|Cgc/Tgc|rs200245469&CM094752&CM1210440&COSV64965760|1||-1||1|EntrezGene|||||0|1||likely_pathogenic|0&0&0&1|1&1&1&1||||||||28|6|6|5|0.00|0.00|0.00|0.00|SDHB|VUS|0.89070946|HP:0000951||AD&AR|LP|||||||P|filter&vkgl&exit_p|	GT	1/1
-1	152520788	symbolic1	A	<DEL>	.	PASS	CSQ=deletion|transcript_ablation|HIGH|LCE3D|84648|Transcript|NM_032563.2|protein_coding|||||||||||1||-1||1|EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|upstream_gene_variant|MODIFIER|LCE3C|353144|Transcript|NM_178434.3|protein_coding|||||||||||1|2608|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|transcript_ablation|HIGH|LCE3E|353145|Transcript|NM_178435.4|protein_coding|||||||||||1||-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000946440||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001787329||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000013752||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000946442||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000946443||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001505919||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001787330||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001787331||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001787332||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00701519957||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00905971885||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00522719201||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|;SVLEN=-49314;SVTYPE=DEL	GT	1/1
-2	47635667	symbolic2	G	<INS>	.	PASS	CSQ=insertion|splice_polypyrimidine_tract_variant&coding_sequence_variant&intron_variant&feature_elongation|LOW|MSH2|4436|Transcript|NM_000251.3|protein_coding|2-8/16|2-8/15|||376-?/3115|340-?/2805|114-?/934||||1||1||1|EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|splice_polypyrimidine_tract_variant&coding_sequence_variant&intron_variant&feature_elongation|LOW|MSH2|4436|Transcript|NM_001258281.1|protein_coding|3-9/17|3-9/16|||281-?/3025|142-?/2607|48-?/868||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001919953||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001919954||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001919955||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001619621||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001919956||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001619622||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001919957||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530589128||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530502780||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525298438||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530512660||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530431919||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522077931||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00533275472||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530460887||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530563027||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530550696||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530602292||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522015626||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00533060686||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525131899||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530576102||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530666750||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521962166||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530450113||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530544207||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530711816||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530598979||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530595684||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530473938||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530525851||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530621224||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522057275||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530464197||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530443827||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530506057||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530582758||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530663480||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00907424037||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530647393||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521890195||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530480339||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525492134||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530592365||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530618016||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530477292||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00907390759||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00533222876||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530556431||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530547368||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530457296||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530627902||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530559755||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530566326||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530529094||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00792006282||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530691966||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530435489||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530427760||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00532972809||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530519223||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530579454||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530695223||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530467446||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530572820||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530585944||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530605579||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530453303||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530655502||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530446920||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530492633||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00532804158||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00908072887||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00776750923||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00907553345||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530470669||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00907757558||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530509374||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00530515926||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522584830||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,insertion|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525790028||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|;SVLEN=-49314;SVTYPE=INS	GT	0/0
-4	106320294	.	G	A	.	PASS	CSQ=A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_006903.4|protein_coding|7/11||NM_006903.4:c.596C>T|NP_008834.3:p.Pro199Leu|616/1586|596/918|199/305|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.985||pathogenic|0&0&1|1&1&1|27523597|||||||-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.8097311|||AR|LP||||4:106320294-106320294|0.000211803|0|P|filter&vkgl&exit_p|,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176866.2|protein_coding|4/8||NM_176866.2:c.377C>T|NP_789842.2:p.Pro126Leu|397/1367|377/699|126/232|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.992||pathogenic|0&0&1|1&1&1|27523597|||||||-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.7550335|||AR|LP||||4:106320294-106320294|0.000211803|0|P|filter&vkgl&exit_p|,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176867.3|protein_coding|2/6||NM_176867.3:c.185C>T|NP_789843.2:p.Pro62Leu|205/1175|185/507|62/168|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.995||pathogenic|0&0&1|1&1&1|27523597|||||||-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.8145551|||AR|LP||||4:106320294-106320294|0.000211803|0|P|filter&vkgl&exit_p|,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176869.3|protein_coding|8/12||NM_176869.3:c.683C>T|NP_789845.1:p.Pro228Leu|695/1665|683/1005|228/334|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1||1|EntrezGene|||||0|0.993||pathogenic|0&0&1|1&1&1|27523597|||||||-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.76490384|||AR|LP||||4:106320294-106320294|0.000211803|0|P|filter&vkgl&exit_p|,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001994744|promoter_flanking_region||||||||||rs138215926&CM1610192&COSV58994362|1|||||||||||||pathogenic|0&0&1|1&1&1|27523597|||||||||||||||||||||||||4:106320294-106320294|0.000211803|0|P|filter&vkgl&clinVar&exit_p|	GT	0|0
-7	42017311	single_breakend_nation	C	C.	.	PASS	CSQ=BND|coding_sequence_variant|MODIFIER|GLI3|2737|Transcript|NM_000168.6|protein_coding|12/15||||1938/8405|1657/4743|553/1580||||1||-1||1|EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,BND|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001394462||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,BND|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000325885||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|;SVTYPE=BND	GT	1|0
-7	42064957	.	GACTC	G	.	PASS	CSQ=-|frameshift_variant|HIGH|GLI3|2737|Transcript|NM_000168.6|protein_coding|9/15||NM_000168.6:c.1258_1261del|NP_000159.3:p.Glu420LeufsTer3|1539-1542/8405|1258-1261/4743|420-421/1580|ES/X|GAGTct/ct||1||-1||1|EntrezGene||||||||||||||||||18|21|-40|6|0.00|0.00|0.00|0.00|GLI3|VUS|0.9822135||1|AD|LP|||||||P|filter&vkgl&exit_p|	GT	1/0
-8	61765143	breakend1	G	]11:134014225]G	.	PASS	BND_DEPTH=26;CSQ=BND|intron_variant|MODIFIER|CHD7|55636|Transcript|NM_001316690.1|protein_coding||2/4|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,BND|coding_sequence_variant|MODIFIER|CHD7|55636|Transcript|NM_017780.4|protein_coding|30/38||||6499/11606|5982/8994|1994/2997||||1||1||1|EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,BND|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000225105||||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|;MATEID=breakend2;MATE_BND_DEPTH=39;SVTYPE=BND	GT	0|1
-8	145140500	.	CAG	C	.	PASS	CSQ=-|frameshift_variant|HIGH|GPAA1|8733|Transcript|NM_003801.4|protein_coding|11/12||NM_003801.4:c.1477_1478del|NP_003792.1:p.Arg493GlyfsTer152|1574-1575/2054|1477-1478/1866|493/621|R/X|AGg/g|rs782339984|1||1||1|EntrezGene||||||||pathogenic||1||||||||-15|-8|12|-21|0.02|0.00|0.00|0.00|GPAA1|VUS|0.99260485|||AR|LP||||8:145140501-145140503|0.000142617|0|P|filter&vkgl&exit_p|,-|downstream_gene_variant|MODIFIER|EXOSC4|54512|Transcript|NM_019037.3|protein_coding||||||||||rs782339984|1|4950|1|||EntrezGene||||||||pathogenic||1||||||||-15|-8|12|-21|0.02|0.00|0.00|0.00|GPAA1|VUS|0.14952277||||||||8:145140501-145140503|0.000142617|0|P|filter&vkgl&clinVar&exit_p|	GT	0/0
-9	107546633	.	AAAGAT	A	.	PASS	CSQ=-|frameshift_variant|HIGH|ABCA1|19|Transcript|NM_005502.4|protein_coding|50/50||NM_005502.4:c.6744_6748del|NP_005493.2:p.Phe2250ThrfsTer3|7057-7061/10408|6744-6748/6786|2248-2250/2261|TSF/TX|acATCTTtt/actt||1||-1||1|EntrezGene|||||||||||||||||||||||||||VUS|0.9823047|HP:0000951||AD&AR||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	1/1
-10	126091499	.	G	C	.	PASS	CSQ=C|stop_gained|HIGH|OAT|4942|Transcript|NM_000274.4|protein_coding|7/10||NM_000274.4:c.897C>G|NP_000265.1:p.Tyr299Ter|977/2039|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.979408|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001171814.2|protein_coding|6/9||NM_001171814.2:c.483C>G|NP_001165285.1:p.Tyr161Ter|749/1811|483/906|161/301|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.97846687|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322965.2|protein_coding|7/10||NM_001322965.2:c.897C>G|NP_001309894.1:p.Tyr299Ter|972/2034|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.979408|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322966.2|protein_coding|8/11||NM_001322966.2:c.897C>G|NP_001309895.1:p.Tyr299Ter|1292/2354|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1||1|EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9796912|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322967.2|protein_coding|8/11||NM_001322967.2:c.897C>G|NP_001309896.1:p.Tyr299Ter|1097/2159|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9819772|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322968.2|protein_coding|9/12||NM_001322968.2:c.897C>G|NP_001309897.1:p.Tyr299Ter|1184/2246|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9819772|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322969.2|protein_coding|8/11||NM_001322969.2:c.897C>G|NP_001309898.1:p.Tyr299Ter|1064/2126|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9819772|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322970.2|protein_coding|9/12||NM_001322970.2:c.897C>G|NP_001309899.1:p.Tyr299Ter|1280/2342|897/1320|299/439|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9796912|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322971.2|protein_coding|5/8||NM_001322971.2:c.576C>G|NP_001309900.1:p.Tyr192Ter|656/1718|576/999|192/332|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9760591|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|,C|stop_gained|HIGH|OAT|4942|Transcript|NM_001322974.2|protein_coding|7/10||NM_001322974.2:c.297C>G|NP_001309903.1:p.Tyr99Ter|863/1925|297/720|99/239|Y/*|taC/taG|rs121965057&CM920525&COSV64348333|1||-1|||EntrezGene||||||||likely_pathogenic&pathogenic|0&0&1|1&1&1|1609808|||||||-1|-3|-3|4|0.00|0.00|0.00|0.00|OAT|VUS|0.9775237|||AR|LP||||10:126091499-126091499|1.59133e-05|0|P|filter&vkgl&exit_p|	GT	0|1
-11	134014225	breakend2	G	G[8:61765143[	.	PASS	BND_DEPTH=39;CSQ=BND|intron_variant|MODIFIER|JAM3|83700|Transcript|NM_001205329.2|protein_coding||3/7|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,BND|coding_sequence_variant|MODIFIER|JAM3|83700|Transcript|NM_032801.5|protein_coding|4/9||||359/3765|347/933|116/310||||1||1||1|EntrezGene|||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|;MATEID=breakend1;MATE_BND_DEPTH=26;SVTYPE=BND	GT	1/0
-13	77570128	.	G	A	.	PASS	CSQ=A|missense_variant|MODERATE|CLN5|1203|Transcript|NM_001366624.2|protein_coding|3/5||NM_001366624.2:c.431G>A|NP_001353553.1:p.Cys144Tyr|449/5286|431/594|144/197|C/Y|tGt/tAt|rs1566219136|1||1|||EntrezGene|||||0|0.995||pathogenic||1||||||||-27|-43|-27|-1|0.00|0.00|0.01|0.00|CLN5|VUS|0.79378206|||AR|LP|||||||P|filter&vkgl&exit_p|,A|missense_variant|MODERATE|CLN5|1203|Transcript|NM_006493.4|protein_coding|3/4||NM_006493.4:c.431G>A|NP_006484.2:p.Cys144Tyr|449/5243|431/1077|144/358|C/Y|tGt/tAt|rs1566219136|1||1||1|EntrezGene|||||0|0.999||pathogenic||1||||||||-27|-43|-27|-1|0.00|0.00|0.01|0.00|CLN5|VUS|0.862269|||AR|LP|||||||P|filter&vkgl&exit_p|	GT	0|0
-14	89336407	.	TG	T	.	PASS	CSQ=-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288781.1|protein_coding|12/16||NM_001288781.1:c.963del|NP_001275710.1:p.Met321IlefsTer15|1159/2378|963/1596|321/531|M/X|atG/at|rs1431207606|1||1||1|EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9807489|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288782.1|protein_coding|10/14||NM_001288782.1:c.321del|NP_001275711.1:p.Met107IlefsTer15|1079/2298|321/954|107/317|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9838007|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001288783.1|protein_coding|11/15||NM_001288783.1:c.198del|NP_001275712.1:p.Met66IlefsTer15|1051/2270|198/831|66/276|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.98078203|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001366535.2|protein_coding|10/13||NM_001366535.2:c.885del|NP_001353464.1:p.Met295IlefsTer15|942/5160|885/1434|295/477|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9797095|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_001366536.2|protein_coding|9/12||NM_001366536.2:c.795del|NP_001353465.1:p.Met265IlefsTer15|852/5070|795/1344|265/447|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9856574|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_144596.4|protein_coding|11/15||NM_144596.4:c.915del|NP_653197.2:p.Met305IlefsTer15|972/2183|915/1548|305/515|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9619866|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_198309.3|protein_coding|11/15||NM_198309.3:c.885del|NP_938051.1:p.Met295IlefsTer15|1081/2300|885/1518|295/505|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9801349|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|TTC8|123016|Transcript|NM_198310.3|protein_coding|10/14||NM_198310.3:c.795del|NP_938052.1:p.Met265IlefsTer15|991/2210|795/1428|265/475|M/X|atG/at|rs1431207606|1||1|||EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.9853147|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|,-|non_coding_transcript_exon_variant|MODIFIER|TTC8|123016|Transcript|NR_159362.2|misc_RNA|11/15||NR_159362.2:n.1002del||1002/5304|||||rs1431207606|1||1|||EntrezGene||||||||||||||||||18|-4|-9|-4|0.00|0.16|0.00|0.00|TTC8|VUS|0.10411882|HP:0000951||AR|LP||||14:89336408-89336409|1.19537e-05|0|P|filter&vkgl&exit_p|	GT	0/0
-14	105167860	.	T	G	.	PASS	CSQ=G|missense_variant|MODERATE|INF2|64423|Transcript|NM_001031714.4|protein_coding|2/22||NM_001031714.4:c.158T>G|NP_001026884.3:p.Leu53Arg|289/7566|158/3723|53/1240|L/R|cTg/cGg||1||1|||EntrezGene|||||0|0.999||||||||||||-28|-2|37|-2|0.00|0.00|0.00|0.00|INF2|VUS|0.9012849|||AD|LP|||||||P|filter&vkgl&exit_p|,G|missense_variant|MODERATE|INF2|64423|Transcript|NM_022489.4|protein_coding|2/23||NM_022489.4:c.158T>G|NP_071934.3:p.Leu53Arg|289/7623|158/3750|53/1249|L/R|cTg/cGg||1||1||1|EntrezGene|||||0|0.999||||||||||||-28|-2|37|-2|0.00|0.00|0.00|0.00|INF2|VUS|0.9012849|||AD|LP|||||||P|filter&vkgl&exit_p|,G|missense_variant|MODERATE|INF2|64423|Transcript|NM_032714.3|protein_coding|2/5||NM_032714.3:c.158T>G|NP_116103.1:p.Leu53Arg|289/1692|158/705|53/234|L/R|cTg/cGg||1||1|||EntrezGene|||||0|0.999||||||||||||-28|-2|37|-2|0.00|0.00|0.00|0.00|INF2|VUS|0.9012849|||AD|LP|||||||P|filter&vkgl&exit_p|,G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001573054|open_chromatin_region|||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	0/0
-17	29556064	.	AC	A	.	PASS	CSQ=-|frameshift_variant|HIGH|NF1|4763|Transcript|NM_000267.3|protein_coding|21/57||NM_000267.3:c.2433del|NP_000258.1:p.Ile812LeufsTer9|2816/12362|2433/8457|811/2818|T/X|acC/ac||1||1|||EntrezGene|||||||1|||||||||||-22|-11|12|25|0.00|0.00|0.00|0.00|NF1|VUS|0.9913782|HP:0000951|1|AD|LP|||||||P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|NF1|4763|Transcript|NM_001042492.3|protein_coding|21/58||NM_001042492.3:c.2433del|NP_001035957.1:p.Ile812LeufsTer9|2766/12373|2433/8520|811/2839|T/X|acC/ac||1||1||1|EntrezGene|||||||1|||||||||||-22|-11|12|25|0.00|0.00|0.00|0.00|NF1|VUS|0.9913782|HP:0000951|1|AD|LP|||||||P|filter&vkgl&exit_p|	GT	0/1
-17	29663879	.	T	G	.	PASS	CSQ=G|missense_variant|MODERATE|NF1|4763|Transcript|NM_000267.3|protein_coding|41/57||NM_000267.3:c.6311T>G|NP_000258.1:p.Leu2104Arg|6694/12362|6311/8457|2104/2818|L/R|cTg/cGg|CM141499&CM143458|1||1|||EntrezGene|||||0|0.994||||1&1||||||||-42|41|-34|8|0.00|0.00|0.00|0.00|NF1|VUS|0.8564539|HP:0000951|1|AD|LP|||||||P|filter&vkgl&exit_p|,G|missense_variant|MODERATE|NF1|4763|Transcript|NM_001042492.3|protein_coding|42/58||NM_001042492.3:c.6374T>G|NP_001035957.1:p.Leu2125Arg|6707/12373|6374/8520|2125/2839|L/R|cTg/cGg|CM141499&CM143458|1||1||1|EntrezGene|||||0|0.993||||1&1||||||||-42|41|-34|8|0.00|0.00|0.00|0.00|NF1|VUS|0.8564539|HP:0000951|1|AD|LP|||||||P|filter&vkgl&exit_p|	GT	0/0
-19	11216146	.	C	G	.	PASS	CSQ=G|stop_gained|HIGH|LDLR|3949|Transcript|NM_000527.5|protein_coding|4/18||NM_000527.5:c.564C>G|NP_000518.1:p.Tyr188Ter|650/5173|564/2583|188/860|Y/*|taC/taG|rs121908034&CM920416&COSV99370340|1||1||1|EntrezGene||||||||pathogenic/likely_pathogenic&pathogenic|0&0&1|1&1&1|25741868&27765764&17142622&8882879&1734722&10422803|||||||1|11|0|-14|0.00|0.00|0.00|0.00|LDLR|VUS|0.97590667|HP:0000951||AD&AR|LP|||||||P|filter&vkgl&exit_p|,G|stop_gained|HIGH|LDLR|3949|Transcript|NM_001195798.2|protein_coding|4/18||NM_001195798.2:c.564C>G|NP_001182727.1:p.Tyr188Ter|650/5167|564/2577|188/858|Y/*|taC/taG|rs121908034&CM920416&COSV99370340|1||1|||EntrezGene||||||||pathogenic/likely_pathogenic&pathogenic|0&0&1|1&1&1|25741868&27765764&17142622&8882879&1734722&10422803|||||||1|11|0|-14|0.00|0.00|0.00|0.00|LDLR|VUS|0.97590667|HP:0000951||AD&AR|LP|||||||P|filter&vkgl&exit_p|,G|stop_gained|HIGH|LDLR|3949|Transcript|NM_001195799.2|protein_coding|3/17||NM_001195799.2:c.441C>G|NP_001182728.1:p.Tyr147Ter|527/5050|441/2460|147/819|Y/*|taC/taG|rs121908034&CM920416&COSV99370340|1||1|||EntrezGene||||||||pathogenic/likely_pathogenic&pathogenic|0&0&1|1&1&1|25741868&27765764&17142622&8882879&1734722&10422803|||||||1|11|0|-14|0.00|0.00|0.00|0.00|LDLR|VUS|0.9765647|HP:0000951||AD&AR|LP|||||||P|filter&vkgl&exit_p|,G|intron_variant|MODIFIER|LDLR|3949|Transcript|NM_001195800.2|protein_coding||3/15|NM_001195800.2:c.314-1922C>G|||||||rs121908034&CM920416&COSV99370340|1||1|||EntrezGene||||||||pathogenic/likely_pathogenic&pathogenic|0&0&1|1&1&1|25741868&27765764&17142622&8882879&1734722&10422803|||||||1|11|0|-14|0.00|0.00|0.00|0.00|LDLR|VUS|0.0055715204|HP:0000951||AD&AR|LP|||||||P|filter&vkgl&exit_p|,G|intron_variant|MODIFIER|LDLR|3949|Transcript|NM_001195803.2|protein_coding||3/15|NM_001195803.2:c.314-1095C>G|||||||rs121908034&CM920416&COSV99370340|1||1|||EntrezGene||||||||pathogenic/likely_pathogenic&pathogenic|0&0&1|1&1&1|25741868&27765764&17142622&8882879&1734722&10422803|||||||1|11|0|-14|0.00|0.00|0.00|0.00|LDLR|VUS|0.0055715204|HP:0000951||AD&AR|LP|||||||P|filter&vkgl&exit_p|	GT	0/1
-19	17451997	.	GA	G	.	PASS	CSQ=-|frameshift_variant|HIGH|GTPBP3|84705|Transcript|NM_001128855.3|protein_coding|8/9||NM_001128855.3:c.1058del|NP_001122327.1:p.Asn353ThrfsTer26|1117/2503|1058/1416|353/471|N/X|aAc/ac||1||1|||EntrezGene|||||||1|||||||||||34|33|-7|33|0.01|0.00|0.00|0.00|GTPBP3|VUS|0.9804278|HP:0000951||AR|LP|||||||P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|GTPBP3|84705|Transcript|NM_001195422.1|protein_coding|8/9||NM_001195422.1:c.1187del|NP_001182351.1:p.Asn396ThrfsTer26|1209/2595|1187/1545|396/514|N/X|aAc/ac||1||1|||EntrezGene|||||||1|||||||||||34|33|-7|33|0.01|0.00|0.00|0.00|GTPBP3|VUS|0.98119754|HP:0000951||AR|LP|||||||P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|GTPBP3|84705|Transcript|NM_032620.4|protein_coding|8/9||NM_032620.4:c.1121del|NP_116009.2:p.Asn374ThrfsTer26|1180/2566|1121/1479|374/492|N/X|aAc/ac||1||1|||EntrezGene|||||||1|||||||||||34|33|-7|33|0.01|0.00|0.00|0.00|GTPBP3|VUS|0.98185974|HP:0000951||AR|LP|||||||P|filter&vkgl&exit_p|,-|frameshift_variant|HIGH|GTPBP3|84705|Transcript|NM_133644.4|protein_coding|7/8||NM_133644.4:c.1217del|NP_598399.2:p.Asn406ThrfsTer26|1276/2662|1217/1575|406/524|N/X|aAc/ac||1||1||1|EntrezGene|||||||1|||||||||||34|33|-7|33|0.01|0.00|0.00|0.00|GTPBP3|VUS|0.97986597|HP:0000951||AR|LP|||||||P|filter&vkgl&exit_p|,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001610216|CTCF_binding_site|||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001909308|promoter|||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523665928||||||||||||1||1||||||||||||||||ENSPFM0305|8|N||HOXB2::ELF1||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	1|0
-20	62326992	.	C	T	.	PASS	CSQ=T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001134758.4|protein_coding||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267544.3|protein_coding||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267545.3|protein_coding||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267546.3|protein_coding||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267547.3|protein_coding||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267548.3|protein_coding||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_001267549.3|protein_coding||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|missense_variant|MODERATE|RTEL1|51750|Transcript|NM_001283009.2|protein_coding|34/35||NM_001283009.2:c.3811C>T|NP_001269938.1:p.Arg1271Trp|4136/4615|3811/3903|1271/1300|R/W|Cgg/Tgg|rs993254667|1||1||1|EntrezGene|||||0.16|0.003||||||||||||12|-21|44|11|0.00|0.00|0.00|0.09|RTEL1|VUS|0.010304764|HP:0000951||AD&AR|||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&sift&polyphen&exit_p|,T|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_001283010.1|protein_coding||33/33|NM_001283010.1:c.2984-139C>T|||||||rs993254667|1||1|||EntrezGene||||||||||||||||||12|-21|44|11|0.00|0.00|0.00|0.09|RTEL1|VUS|0.0033220313|HP:0000951||AD&AR|||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NM_003224.6|protein_coding||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|upstream_gene_variant|MODIFIER|TNFRSF6B|8771|Transcript|NM_003823.4|protein_coding||||||||||rs993254667|1|1013|1|||EntrezGene|||||||||||||||||||||||||||VUS|0.010661138||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_016434.4|protein_coding||34/34|NM_016434.4:c.3653-139C>T|||||||rs993254667|1||1|||EntrezGene||||||||||||||||||12|-21|44|11|0.00|0.00|0.00|0.09|RTEL1|VUS|0.0033220313|HP:0000951||AD&AR|||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|intron_variant|MODIFIER|RTEL1|51750|Transcript|NM_032957.5|protein_coding||34/34|NM_032957.5:c.3725-139C>T|||||||rs993254667|1||1|||EntrezGene||||||||||||||||||12|-21|44|11|0.00|0.00|0.00|0.09|RTEL1|VUS|0.0033220313|HP:0000951||AD&AR|||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|non_coding_transcript_exon_variant|MODIFIER|RTEL1-TNFRSF6B|100533107|Transcript|NR_037882.1|lncRNA|34/38||NR_037882.1:n.4638C>T||4638/5772|||||rs993254667|1||1|||EntrezGene||||||||||||||||||12|-21|44|11|0.00|0.00|0.00|0.09|RTEL1-TNFRSF6B|VUS|0.06427667||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051954.3|misc_RNA||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051955.3|misc_RNA||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051956.3|misc_RNA||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051957.3|misc_RNA||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|downstream_gene_variant|MODIFIER|ARFRP1|10139|Transcript|NR_051958.3|misc_RNA||||||||||rs993254667|1|3008|-1|||EntrezGene|||||||||||||||||||||||||||VUS|0.030849965||||||||20:62326992-62326992|1.62113e-05|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	0|0
-22	50627593	.	C	CTG	.	.	CSQ=TG|intron_variant|MODIFIER|TRABD|80305|Transcript|NM_001320484.2|protein_coding||1/9|NM_001320484.2:c.-35+3188_-35+3189insTG||||||||1||1||1|EntrezGene|||||||||||||||||||||||||||VUS|0.008963062|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,TG|intron_variant|MODIFIER|TRABD|80305|Transcript|NM_001320485.2|protein_coding||1/9|NM_001320485.2:c.-35+3188_-35+3189insTG||||||||1||1|||EntrezGene|||||||||||||||||||||||||||VUS|0.008963062|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,TG|upstream_gene_variant|MODIFIER|TRABD|80305|Transcript|NM_001320487.2|protein_coding|||||||||||1|1422|1|||EntrezGene|||||||||||||||||||||||||||VUS|0.2446478|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,TG|upstream_gene_variant|MODIFIER|TRABD|80305|Transcript|NM_001320488.2|protein_coding|||||||||||1|1422|1|||EntrezGene|||||||||||||||||||||||||||VUS|0.2446478|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,TG|intron_variant|MODIFIER|TRABD|80305|Transcript|NM_001378762.1|protein_coding||1/9|NM_001378762.1:c.-35+3119_-35+3120insTG||||||||1||1|||EntrezGene|||||||||||||||||||||||||||VUS|0.008963062|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,TG|intron_variant|MODIFIER|TRABD|80305|Transcript|NM_001378765.1|protein_coding||1/10|NM_001378765.1:c.-35+3159_-35+3160insTG||||||||1||1|||EntrezGene|||||||||||||||||||||||||||VUS|0.008963062|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,TG|intron_variant|MODIFIER|TRABD|80305|Transcript|NM_025204.4|protein_coding||1/9|NM_025204.4:c.-35+3163_-35+3164insTG||||||||1||1|||EntrezGene|||||||||||||||||||||||||||VUS|0.008963062|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,TG|intron_variant&non_coding_transcript_variant|MODIFIER|TRABD|80305|Transcript|NR_135275.2|misc_RNA||1/9|NR_135275.2:n.64+3188_64+3189insTG||||||||1||1|||EntrezGene|||||||||||||||||||||||||||VUS|0.03393742|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,TG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000147691|promoter|||||||||||1||||||||||||||||||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	0/0
-22	50721546	.	C	T	.	PASS	CSQ=T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376864.1|protein_coding|17/37||NM_001376864.1:c.2749G>A|NP_001363793.1:p.Gly917Ser|2881/6611|2749/5754|917/1917|G/S|Ggc/Agc|rs1377653283|1||-1||1|EntrezGene||||||||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.14842245||||||||22:50721546-50721546|4.49665e-06|0|P|filter&vkgl&clinVar&gnomad&effect&sift&polyphen&impact&exit_p|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376865.1|protein_coding|18/38||NM_001376865.1:c.2818G>A|NP_001363794.1:p.Gly940Ser|2898/6391|2818/5586|940/1861|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene||||||||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.14842245||||||||22:50721546-50721546|4.49665e-06|0|P|filter&vkgl&clinVar&gnomad&effect&sift&polyphen&impact&exit_p|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376866.1|protein_coding|17/37||NM_001376866.1:c.2749G>A|NP_001363795.1:p.Gly917Ser|2909/6402|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376867.1|protein_coding|18/38||NM_001376867.1:c.2749G>A|NP_001363796.1:p.Gly917Ser|2969/6462|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376868.1|protein_coding|18/38||NM_001376868.1:c.2749G>A|NP_001363797.1:p.Gly917Ser|2962/6455|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376869.1|protein_coding|16/36||NM_001376869.1:c.2749G>A|NP_001363798.1:p.Gly917Ser|2856/6349|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376870.1|protein_coding|17/37||NM_001376870.1:c.2749G>A|NP_001363799.1:p.Gly917Ser|2881/6374|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376871.1|protein_coding|17/37||NM_001376871.1:c.2749G>A|NP_001363800.1:p.Gly917Ser|2874/6367|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376872.1|protein_coding|19/39||NM_001376872.1:c.2749G>A|NP_001363801.1:p.Gly917Ser|3066/6559|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376873.1|protein_coding|18/38||NM_001376873.1:c.2749G>A|NP_001363802.1:p.Gly917Ser|3218/6711|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376874.1|protein_coding|18/38||NM_001376874.1:c.2749G>A|NP_001363803.1:p.Gly917Ser|2934/6427|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376875.1|protein_coding|16/36||NM_001376875.1:c.2749G>A|NP_001363804.1:p.Gly917Ser|2933/6426|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376876.1|protein_coding|18/38||NM_001376876.1:c.2749G>A|NP_001363805.1:p.Gly917Ser|2927/6420|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376877.1|protein_coding|18/38||NM_001376877.1:c.2749G>A|NP_001363806.1:p.Gly917Ser|3198/6691|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376878.1|protein_coding|16/36||NM_001376878.1:c.2749G>A|NP_001363807.1:p.Gly917Ser|2821/6314|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376879.1|protein_coding|19/39||NM_001376879.1:c.2749G>A|NP_001363808.1:p.Gly917Ser|3101/6594|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376880.1|protein_coding|17/37||NM_001376880.1:c.2749G>A|NP_001363809.1:p.Gly917Ser|2991/6484|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376881.1|protein_coding|18/38||NM_001376881.1:c.2749G>A|NP_001363810.1:p.Gly917Ser|3046/6539|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376882.1|protein_coding|17/37||NM_001376882.1:c.2749G>A|NP_001363811.1:p.Gly917Ser|3165/6658|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376883.1|protein_coding|17/37||NM_001376883.1:c.2749G>A|NP_001363812.1:p.Gly917Ser|2881/6350|2749/5493|917/1830|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene||||||||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.14842245||||||||22:50721546-50721546|4.49665e-06|0|P|filter&vkgl&clinVar&gnomad&effect&sift&polyphen&impact&exit_p|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376884.1|protein_coding|16/36||NM_001376884.1:c.2749G>A|NP_001363813.1:p.Gly917Ser|2821/6236|2749/5439|917/1812|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene||||||||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.14842245||||||||22:50721546-50721546|4.49665e-06|0|P|filter&vkgl&clinVar&gnomad&effect&sift&polyphen&impact&exit_p|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376885.1|protein_coding|17/37||NM_001376885.1:c.2749G>A|NP_001363814.1:p.Gly917Ser|2909/6324|2749/5439|917/1812|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene||||||||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.14842245||||||||22:50721546-50721546|4.49665e-06|0|P|filter&vkgl&clinVar&gnomad&effect&sift&polyphen&impact&exit_p|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_001376886.1|protein_coding|17/37||NM_001376886.1:c.2656G>A|NP_001363815.1:p.Gly886Ser|2876/6369|2656/5424|886/1807|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene||||||||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.14842245||||||||22:50721546-50721546|4.49665e-06|0|P|filter&vkgl&clinVar&gnomad&effect&sift&polyphen&impact&exit_p|,T|missense_variant|MODERATE|PLXNB2|23654|Transcript|NM_012401.4|protein_coding|17/37||NM_012401.4:c.2749G>A|NP_036533.2:p.Gly917Ser|2916/6409|2749/5517|917/1838|G/S|Ggc/Agc|rs1377653283|1||-1|||EntrezGene|||||0|1||||||||||||-2|36|-32|-38|0.05|0.00|0.00|0.00|PLXNB2|VUS|0.92206705||||||||22:50721546-50721546|4.49665e-06|0|LP|filter&vkgl&clinVar&gnomad&effect&sift&exit_lp|,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001960812|promoter||||||||||rs1377653283|1|||||||||||||||||||||||||||||||||||||||||22:50721546-50721546|4.49665e-06|0|P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	1|1
-X	48933021	x_chrom	A	T	.	PASS	CSQ=T|splice_donor_variant|HIGH|WDR45|11152|Transcript|NM_001029896.2|protein_coding||9/10|NM_001029896.2:c.827+2T>A|||||||CS135341|1||-1|||EntrezGene||||||||||1||||||||27|28|-2|2|0.02|0.00|0.01|0.99|WDR45|VUS|0.9700852|HP:0000951||XL|LP|||||||P|filter&vkgl&exit_p|,T|splice_donor_variant|HIGH|WDR45|11152|Transcript|NM_007075.4|protein_coding||10/11|NM_007075.4:c.830+2T>A|||||||CS135341|1||-1||1|EntrezGene||||||||||1||||||||27|28|-2|2|0.02|0.00|0.01|0.99|WDR45|VUS|0.9700852|HP:0000951||XL|LP|||||||P|filter&vkgl&exit_p|,T|upstream_gene_variant|MODIFIER|PRAF2|11230|Transcript|NM_007213.3|protein_coding||||||||||CS135341|1|1360|-1|||EntrezGene||||||||||1||||||||27|28|-2|2|0.02|0.00|0.01|0.99|WDR45|VUS|0.0149048455|||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&exit_p|,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001477865|CTCF_binding_site||||||||||CS135341|1|||||||||||||||1|||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|,T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001765299|promoter_flanking_region||||||||||CS135341|1|||||||||||||||1|||||||||||||||||||||||||||||P|filter&vkgl&clinVar&gnomad&effect&spliceAI&annotSV&impact&exit_p|	GT	0/0
-Y	2655641	y_chrom	G	A	.	PASS	CSQ=A|stop_gained|HIGH|SRY|6736|Transcript|NM_003140.3|protein_coding|1/1||NM_003140.3:c.4C>T|NP_003131.1:p.Gln2Ter|83/828|4/615|2/204|Q/*|Caa/Taa|rs104894977&CM981858|1||-1||1|EntrezGene||||||||pathogenic||1&1|2401216&9443877|||||||-26|-50|2|-4|0.01|0.00|0.00|0.00|SRY|VUS|0.8890525|||||||||||P|filter&vkgl&clinVar&exit_p|	GT	0|0
-MT	15326	mt_chrom	A	G	.	PASS	CSQ=G|intergenic_variant|MODIFIER|||||||||||||||rs2853508|1||||1|||||||||benign&likely_pathogenic||1|31267007||||||||||||||||||||||||||||P|filter&vkgl&clinVar&exit_p|	GT	0/0
+##bcftools_annotateCommand=annotate -a /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/GRCh38/str_catalog_v1.beta.txt -c CHROM,FROM,TO,repeat_unit,Repeat_id,Gene_id,Disease,HGNCId,-,-,LocusStructure,NormalMax,PathogenicMin -i SVTYPE="STR" -h /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/GRCh38/str_header.hdr; Date=Tue Aug 27 13:35:24 2024
+##bcftools_annotateVersion=1.17+htslib-1.17
+##clinVar_CLNID=ClinVar variation identifier
+##clinVar_CLNREVSTAT=ClinVar review status for the Variation ID
+##clinVar_CLNSIG=Clinical significance for this single variant; multiple values are separated by a vertical bar
+##clinVar_CLNSIGINCL=Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance; multiple values are separated by a vertical bar
+##contig=<ID=chr1,length=248956422>
+##contig=<ID=chr2,length=242193529>
+##contig=<ID=chr3,length=198295559>
+##contig=<ID=chr5,length=181538259>
+##contig=<ID=chr6,length=170805979>
+##contig=<ID=chr9,length=138394717>
+##contig=<ID=chr12,length=133275309>
+##contig=<ID=chr13,length=114364328>
+##contig=<ID=chr14,length=107043718>
+##contig=<ID=chr15,length=101991189>
+##contig=<ID=chr16,length=90338345>
+##contig=<ID=chr18,length=80373285>
+##contig=<ID=chr19,length=58617616>
+##contig=<ID=chr20,length=64444167>
+##contig=<ID=chr21,length=46709983>
+##contig=<ID=chr22,length=50818468>
+##contig=<ID=chrX,length=156040895>
+##contig=<ID=chr4,length=190214555>
+##contig=<ID=chr7,length=159345973>
+##contig=<ID=chr8,length=145138636>
+##contig=<ID=chr10,length=133797422>
+##contig=<ID=chr11,length=135086622>
+##contig=<ID=chr17,length=83257441>
+##contig=<ID=chrY,length=57227415>
+##contig=<ID=chrM,length=16569>
+##contig=<ID=chr1_KI270706v1_random,length=175055>
+##contig=<ID=chr1_KI270707v1_random,length=32032>
+##contig=<ID=chr1_KI270708v1_random,length=127682>
+##contig=<ID=chr1_KI270709v1_random,length=66860>
+##contig=<ID=chr1_KI270710v1_random,length=40176>
+##contig=<ID=chr1_KI270711v1_random,length=42210>
+##contig=<ID=chr1_KI270712v1_random,length=176043>
+##contig=<ID=chr1_KI270713v1_random,length=40745>
+##contig=<ID=chr1_KI270714v1_random,length=41717>
+##contig=<ID=chr2_KI270715v1_random,length=161471>
+##contig=<ID=chr2_KI270716v1_random,length=153799>
+##contig=<ID=chr3_GL000221v1_random,length=155397>
+##contig=<ID=chr4_GL000008v2_random,length=209709>
+##contig=<ID=chr5_GL000208v1_random,length=92689>
+##contig=<ID=chr9_KI270717v1_random,length=40062>
+##contig=<ID=chr9_KI270718v1_random,length=38054>
+##contig=<ID=chr9_KI270719v1_random,length=176845>
+##contig=<ID=chr9_KI270720v1_random,length=39050>
+##contig=<ID=chr11_KI270721v1_random,length=100316>
+##contig=<ID=chr14_GL000009v2_random,length=201709>
+##contig=<ID=chr14_GL000225v1_random,length=211173>
+##contig=<ID=chr14_KI270722v1_random,length=194050>
+##contig=<ID=chr14_GL000194v1_random,length=191469>
+##contig=<ID=chr14_KI270723v1_random,length=38115>
+##contig=<ID=chr14_KI270724v1_random,length=39555>
+##contig=<ID=chr14_KI270725v1_random,length=172810>
+##contig=<ID=chr14_KI270726v1_random,length=43739>
+##contig=<ID=chr15_KI270727v1_random,length=448248>
+##contig=<ID=chr16_KI270728v1_random,length=1872759>
+##contig=<ID=chr17_GL000205v2_random,length=185591>
+##contig=<ID=chr17_KI270729v1_random,length=280839>
+##contig=<ID=chr17_KI270730v1_random,length=112551>
+##contig=<ID=chr22_KI270731v1_random,length=150754>
+##contig=<ID=chr22_KI270732v1_random,length=41543>
+##contig=<ID=chr22_KI270733v1_random,length=179772>
+##contig=<ID=chr22_KI270734v1_random,length=165050>
+##contig=<ID=chr22_KI270735v1_random,length=42811>
+##contig=<ID=chr22_KI270736v1_random,length=181920>
+##contig=<ID=chr22_KI270737v1_random,length=103838>
+##contig=<ID=chr22_KI270738v1_random,length=99375>
+##contig=<ID=chr22_KI270739v1_random,length=73985>
+##contig=<ID=chrY_KI270740v1_random,length=37240>
+##contig=<ID=chrUn_KI270302v1,length=2274>
+##contig=<ID=chrUn_KI270304v1,length=2165>
+##contig=<ID=chrUn_KI270303v1,length=1942>
+##contig=<ID=chrUn_KI270305v1,length=1472>
+##contig=<ID=chrUn_KI270322v1,length=21476>
+##contig=<ID=chrUn_KI270320v1,length=4416>
+##contig=<ID=chrUn_KI270310v1,length=1201>
+##contig=<ID=chrUn_KI270316v1,length=1444>
+##contig=<ID=chrUn_KI270315v1,length=2276>
+##contig=<ID=chrUn_KI270312v1,length=998>
+##contig=<ID=chrUn_KI270311v1,length=12399>
+##contig=<ID=chrUn_KI270317v1,length=37690>
+##contig=<ID=chrUn_KI270412v1,length=1179>
+##contig=<ID=chrUn_KI270411v1,length=2646>
+##contig=<ID=chrUn_KI270414v1,length=2489>
+##contig=<ID=chrUn_KI270419v1,length=1029>
+##contig=<ID=chrUn_KI270418v1,length=2145>
+##contig=<ID=chrUn_KI270420v1,length=2321>
+##contig=<ID=chrUn_KI270424v1,length=2140>
+##contig=<ID=chrUn_KI270417v1,length=2043>
+##contig=<ID=chrUn_KI270422v1,length=1445>
+##contig=<ID=chrUn_KI270423v1,length=981>
+##contig=<ID=chrUn_KI270425v1,length=1884>
+##contig=<ID=chrUn_KI270429v1,length=1361>
+##contig=<ID=chrUn_KI270442v1,length=392061>
+##contig=<ID=chrUn_KI270466v1,length=1233>
+##contig=<ID=chrUn_KI270465v1,length=1774>
+##contig=<ID=chrUn_KI270467v1,length=3920>
+##contig=<ID=chrUn_KI270435v1,length=92983>
+##contig=<ID=chrUn_KI270438v1,length=112505>
+##contig=<ID=chrUn_KI270468v1,length=4055>
+##contig=<ID=chrUn_KI270510v1,length=2415>
+##contig=<ID=chrUn_KI270509v1,length=2318>
+##contig=<ID=chrUn_KI270518v1,length=2186>
+##contig=<ID=chrUn_KI270508v1,length=1951>
+##contig=<ID=chrUn_KI270516v1,length=1300>
+##contig=<ID=chrUn_KI270512v1,length=22689>
+##contig=<ID=chrUn_KI270519v1,length=138126>
+##contig=<ID=chrUn_KI270522v1,length=5674>
+##contig=<ID=chrUn_KI270511v1,length=8127>
+##contig=<ID=chrUn_KI270515v1,length=6361>
+##contig=<ID=chrUn_KI270507v1,length=5353>
+##contig=<ID=chrUn_KI270517v1,length=3253>
+##contig=<ID=chrUn_KI270529v1,length=1899>
+##contig=<ID=chrUn_KI270528v1,length=2983>
+##contig=<ID=chrUn_KI270530v1,length=2168>
+##contig=<ID=chrUn_KI270539v1,length=993>
+##contig=<ID=chrUn_KI270538v1,length=91309>
+##contig=<ID=chrUn_KI270544v1,length=1202>
+##contig=<ID=chrUn_KI270548v1,length=1599>
+##contig=<ID=chrUn_KI270583v1,length=1400>
+##contig=<ID=chrUn_KI270587v1,length=2969>
+##contig=<ID=chrUn_KI270580v1,length=1553>
+##contig=<ID=chrUn_KI270581v1,length=7046>
+##contig=<ID=chrUn_KI270579v1,length=31033>
+##contig=<ID=chrUn_KI270589v1,length=44474>
+##contig=<ID=chrUn_KI270590v1,length=4685>
+##contig=<ID=chrUn_KI270584v1,length=4513>
+##contig=<ID=chrUn_KI270582v1,length=6504>
+##contig=<ID=chrUn_KI270588v1,length=6158>
+##contig=<ID=chrUn_KI270593v1,length=3041>
+##contig=<ID=chrUn_KI270591v1,length=5796>
+##contig=<ID=chrUn_KI270330v1,length=1652>
+##contig=<ID=chrUn_KI270329v1,length=1040>
+##contig=<ID=chrUn_KI270334v1,length=1368>
+##contig=<ID=chrUn_KI270333v1,length=2699>
+##contig=<ID=chrUn_KI270335v1,length=1048>
+##contig=<ID=chrUn_KI270338v1,length=1428>
+##contig=<ID=chrUn_KI270340v1,length=1428>
+##contig=<ID=chrUn_KI270336v1,length=1026>
+##contig=<ID=chrUn_KI270337v1,length=1121>
+##contig=<ID=chrUn_KI270363v1,length=1803>
+##contig=<ID=chrUn_KI270364v1,length=2855>
+##contig=<ID=chrUn_KI270362v1,length=3530>
+##contig=<ID=chrUn_KI270366v1,length=8320>
+##contig=<ID=chrUn_KI270378v1,length=1048>
+##contig=<ID=chrUn_KI270379v1,length=1045>
+##contig=<ID=chrUn_KI270389v1,length=1298>
+##contig=<ID=chrUn_KI270390v1,length=2387>
+##contig=<ID=chrUn_KI270387v1,length=1537>
+##contig=<ID=chrUn_KI270395v1,length=1143>
+##contig=<ID=chrUn_KI270396v1,length=1880>
+##contig=<ID=chrUn_KI270388v1,length=1216>
+##contig=<ID=chrUn_KI270394v1,length=970>
+##contig=<ID=chrUn_KI270386v1,length=1788>
+##contig=<ID=chrUn_KI270391v1,length=1484>
+##contig=<ID=chrUn_KI270383v1,length=1750>
+##contig=<ID=chrUn_KI270393v1,length=1308>
+##contig=<ID=chrUn_KI270384v1,length=1658>
+##contig=<ID=chrUn_KI270392v1,length=971>
+##contig=<ID=chrUn_KI270381v1,length=1930>
+##contig=<ID=chrUn_KI270385v1,length=990>
+##contig=<ID=chrUn_KI270382v1,length=4215>
+##contig=<ID=chrUn_KI270376v1,length=1136>
+##contig=<ID=chrUn_KI270374v1,length=2656>
+##contig=<ID=chrUn_KI270372v1,length=1650>
+##contig=<ID=chrUn_KI270373v1,length=1451>
+##contig=<ID=chrUn_KI270375v1,length=2378>
+##contig=<ID=chrUn_KI270371v1,length=2805>
+##contig=<ID=chrUn_KI270448v1,length=7992>
+##contig=<ID=chrUn_KI270521v1,length=7642>
+##contig=<ID=chrUn_GL000195v1,length=182896>
+##contig=<ID=chrUn_GL000219v1,length=179198>
+##contig=<ID=chrUn_GL000220v1,length=161802>
+##contig=<ID=chrUn_GL000224v1,length=179693>
+##contig=<ID=chrUn_KI270741v1,length=157432>
+##contig=<ID=chrUn_GL000226v1,length=15008>
+##contig=<ID=chrUn_GL000213v1,length=164239>
+##contig=<ID=chrUn_KI270743v1,length=210658>
+##contig=<ID=chrUn_KI270744v1,length=168472>
+##contig=<ID=chrUn_KI270745v1,length=41891>
+##contig=<ID=chrUn_KI270746v1,length=66486>
+##contig=<ID=chrUn_KI270747v1,length=198735>
+##contig=<ID=chrUn_KI270748v1,length=93321>
+##contig=<ID=chrUn_KI270749v1,length=158759>
+##contig=<ID=chrUn_KI270750v1,length=148850>
+##contig=<ID=chrUn_KI270751v1,length=150742>
+##contig=<ID=chrUn_KI270752v1,length=27745>
+##contig=<ID=chrUn_KI270753v1,length=62944>
+##contig=<ID=chrUn_KI270754v1,length=40191>
+##contig=<ID=chrUn_KI270755v1,length=36723>
+##contig=<ID=chrUn_KI270756v1,length=79590>
+##contig=<ID=chrUn_KI270757v1,length=71251>
+##contig=<ID=chrUn_GL000214v1,length=137718>
+##contig=<ID=chrUn_KI270742v1,length=186739>
+##contig=<ID=chrUn_GL000216v2,length=176608>
+##contig=<ID=chrUn_GL000218v1,length=161147>
+##contig=<ID=chrEBV,length=171823>
+##existing_InFrame_oORFs=The number of existing inFrame overlapping ORFs (inFrame oORF) at the 5 prime UTR
+##existing_OutOfFrame_oORFs=The number of existing out-of-frame overlapping ORFs (OutOfFrame oORF) at the 5 prime UTR
+##existing_uORFs=The number of existing uORFs with a stop codon within the 5 prime UTR
+##fileDate=20240827
+##five_prime_UTR_variant_annotation=Output the annotation of a given 5 prime UTR variant
+##five_prime_UTR_variant_consequence=Output the variant consequences of a given 5 prime UTR variant: uAUG_gained, uAUG_lost, uSTOP_lost or uFrameshift
+##gnomAD_AF=gnomAD allele frequency
+##gnomAD_COV=gnomAD coverage (percent of individuals in gnomAD source)
+##gnomAD_FAF95=gnomAD filtering allele frequency (95% confidence)
+##gnomAD_FAF99=gnomAD filtering allele frequency (99% confidence)
+##gnomAD_HN=gnomAD number of homozygotes
+##gnomAD_QC=gnomAD quality control filters that failed
+##gnomAD_SRC=gnomAD source: E=exomes, G=genomes, T=total
+##ncER=ncER (https://www.nature.com/articles/s41467-019-13212-3) scores. This indicates the likelyhood of a location being essential in terms of regulation.
+##reference=/groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/resources/GRCh38/GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gz
+##source=StraglrV1.5.1
+##ALT=<ID=INS,Description="Insertion of novel sequence relative to the reference">
+##ALT=<ID=DEL,Description="Deletion relative to the reference">
+##ALT=<ID=DUP,Description="Region of elevated copy number relative to the reference">
+##ALT=<ID=INV,Description="Inversion of reference sequence">
+##ALT=<ID=BND,Description="Breakend of translocation">
+##ALT=<ID=LOH,Description="Loss of Heterozygosity,">
+##VIP_Version=7.9.0
+##VIP_Command=nextflow -C /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/config/nxf_cram.config -log /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/./test/output/run02/output/.nxf.log run /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/vip_cram.nf -offline -profile slurm -with-report /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/./test/output/run02/output/nxf_report.html -with-timeline /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/./test/output/run02/output/nxf_timeline.html --input /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/./test/run01/samplesheet.tsv --output /groups/umcg-gcc/tmp02/users/umcg-bcharbon/vip/./test/output/run02/output -resume
+#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	sample0
+chr1	2019227	cuteSV.INS.4	C	CGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGTGGGAGGGAACGGGGAGGGAAGCGGCGGGGCGCGGGGGTGGGGGGGAGGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGGCGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAGGGGGGTG	343.5	PASS	AC=2;AF=1;AN=2;CILEN=-2,2;CIPOS=-2,2;CSQ=GGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGTGGGAGGGAACGGGGAGGGAAGCGGCGGGGCGCGGGGGTGGGGGGGAGGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGGCGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAGGGGGGTG|upstream_gene_variant|MODIFIER|GABRD|2563|Transcript|NM_000815.5|protein_coding|||||||||||1|117|1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||97.5628||0.5810||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=2019227;PRECISE;RE=36;RNAMES=NULL;SVLEN=225;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:36:91:344,92,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr1	20626074	cuteSV.DEL.5	AGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAG	A	219.5	PASS	AC=2;AF=1;AN=2;CILEN=-2,2;CIPOS=-8,8;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||58.1625||0.0210||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=20626135;PRECISE;RE=23;RNAMES=NULL;STRAND=+-;SVLEN=-61;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:23:58:219,59,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr1	27086494	cuteSV.INS.17	A	ACCATACACCACACAACCCACACACCACACCACCACACACACACACACCACACACACCATTTCACCACACAACCCACACACCACACCACCACACACACACACCACACACACCAAACCACACCCACATCACACACCCCACACACACCACACATATGCCACACCACACACACACACGCCACACCACACACATGCCACACCTCACACCTCCCCACACAAATCACACACACCACACACCACACACACACCCCACATGACACACACACTACACACACCACACACACCACACTCCACACACACCATTTCACCACACAACCCACACACCACACCACCACACACACACCACACACACCCTAGACACCACACAAACCACACACACCACACCCACACCACACACCCCACACCACACCCCACATACCACCATACACACCACACATACCACCATACACACCAGACACCACAGACACCAAACACCACAGACACCACACATACACCACACAGACCCCACTCACCACACACACCACATACACGACACATACTACACACCCCACATACCACAAACACCACACAAGCAACAAACCATACACACCATGCACACACCACACACGACACATACTACACACCCCGCATACCCACACTCACACAAGCAACACACAAACCATACACACCATGCACACACCACACATGACACACATGCCCCACACAGCATATACACCACACACAACACACACACACCGCACACACACCCCACTACACACCCTACACACACACCATGCACACCATACACACCACACACCACACACACCACACATATCACACACCCCCACGCACCACACCACACAGCACACACACACCATACACACACAACACACCACACACATACAACATACACACCACACCACACACACCACACGCCCCCACATGCCACACCACATACACATCATACACACCAAACACCACACACGCAGTACACACCACACACCATACAGCCCACACCACACACACAACACACAAACCACACACACACCATATACACCAAACACCACACACACAACACATGCAACACACACACTATATACACCACCATGCACAAATCACACACCACACACCCCACATACCACACACACCACATACACCACACACTACACACACACAACCACATGCCACACACACACTCCCC	95.4	PASS	AC=2;AF=1;AN=2;CILEN=-9,9;CIPOS=0,0;CSQ=CCATACACCACACAACCCACACACCACACCACCACACACACACACACCACACACACCATTTCACCACACAACCCACACACCACACCACCACACACACACACCACACACACCAAACCACACCCACATCACACACCCCACACACACCACACATATGCCACACCACACACACACACGCCACACCACACACATGCCACACCTCACACCTCCCCACACAAATCACACACACCACACACCACACACACACCCCACATGACACACACACTACACACACCACACACACCACACTCCACACACACCATTTCACCACACAACCCACACACCACACCACCACACACACACCACACACACCCTAGACACCACACAAACCACACACACCACACCCACACCACACACCCCACACCACACCCCACATACCACCATACACACCACACATACCACCATACACACCAGACACCACAGACACCAAACACCACAGACACCACACATACACCACACAGACCCCACTCACCACACACACCACATACACGACACATACTACACACCCCACATACCACAAACACCACACAAGCAACAAACCATACACACCATGCACACACCACACACGACACATACTACACACCCCGCATACCCACACTCACACAAGCAACACACAAACCATACACACCATGCACACACCACACATGACACACATGCCCCACACAGCATATACACCACACACAACACACACACACCGCACACACACCCCACTACACACCCTACACACACACCATGCACACCATACACACCACACACCACACACACCACACATATCACACACCCCCACGCACCACACCACACAGCACACACACACCATACACACACAACACACCACACACATACAACATACACACCACACCACACACACCACACGCCCCCACATGCCACACCACATACACATCATACACACCAAACACCACACACGCAGTACACACCACACACCATACAGCCCACACCACACACACAACACACAAACCACACACACACCATATACACCAAACACCACACACACAACACATGCAACACACACACTATATACACCACCATGCACAAATCACACACCACACACCCCACATACCACACACACCACATACACCACACACTACACACACACAACCACATGCCACACACACACTCCCC|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||NA||||71.2127||0.0150||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=27086494;PRECISE;RE=10;RNAMES=NULL;SVLEN=1176;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:10:25:95,26,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr1	27165820	cuteSV.INS.19	A	AAAAATATATATATATATATATATATATATATATATAT	120.6	PASS	AC=1;AF=0.6286;AN=2;CILEN=-2,2;CIPOS=-2,2;CSQ=AAAATATATATATATATATATATATATATATATATAT|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||71.2123||0.0150||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=27165820;PRECISE;RE=22;RNAMES=NULL;SVLEN=37;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:13:22:34:121,0,35:AD:U2:vipc&gt&gq&vim&exit_u2
+chr1	42367140	cuteSV.INS.20	C	CGTGAGCCACCGCACCCAGCCTTGTCTGAATTTTTA	95.4	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=GTGAGCCACCGCACCCAGCCTTGTCTGAATTTTTA|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||9.36305||0.0790||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=42367140;PRECISE;RE=10;RNAMES=NULL;SVLEN=35;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:10:25:95,26,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr1	44951950	cuteSV.DEL.6	GCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGAACTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	G	30.3	PASS	AC=1;AF=0.3636;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|EIF2B3|8891|Transcript|NM_001166588.3|protein_coding||3/9|NM_001166588.3:c.295-10597_295-10286del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||87.5705||0.1560||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|EIF2B3|8891|Transcript|NM_001261418.2|protein_coding||3/10|NM_001261418.2:c.295-10597_295-10286del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||87.5705||0.1560||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|EIF2B3|8891|Transcript|NM_020365.5|protein_coding||3/11|NM_020365.5:c.295-10597_295-10286del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||87.5705||0.1560||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=44952262;PRECISE;RE=12;RNAMES=NULL;STRAND=+-;SVLEN=-312;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIM:VIPC_S:VIPP_S	0/1:21:12:30:30,0,116:AD:0:U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr1	212910236	cuteSV.INS.36	C	CCCCCACTGAGCACCTTGCAACCCCCACTCCT	190.8	PASS	AC=2;AF=0.9167;AN=2;CILEN=0,0;CIPOS=-3,3;CSQ=CCCCACTGAGCACCTTGCAACCCCCACTCCT|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||88.7743||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=212910236;PRECISE;RE=22;RNAMES=NULL;SVLEN=31;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:2:22:42:191,42,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr1	219901001	cuteSV.INS.37	A	AGAGGGAGGGGAGGTGGGGAGGAGGGAGGGGGAGGGAGGAAGGTGGGGAGGGAGGGAGTGGGGAGGGAGGGGAGGAAAGAGGGAGGAAGGAAGGCAGGAAGGCAGGAAGACAGGAAGGGAGGGAGGGAGGGAGGGAGG	105	PASS	AC=2;AF=1;AN=2;CILEN=-2,2;CIPOS=-3,3;CSQ=GAGGGAGGGGAGGTGGGGAGGAGGGAGGGGGAGGGAGGAAGGTGGGGAGGGAGGGAGTGGGGAGGGAGGGGAGGAAAGAGGGAGGAAGGAAGGCAGGAAGGCAGGAAGACAGGAAGGGAGGGAGGGAGGGAGGGAGG|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||83.9397||0.0010||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=219901001;PRECISE;RE=11;RNAMES=NULL;SVLEN=137;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:11:28:105,28,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr1	219904293	cuteSV.INS.38	A	AGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCGCTACTAAAAATACAAAAATTCGTTGGGTGTGGTGGCACATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTAAACCCAGGAGGCAGAGTTGCAGTGAGCCAAGACTACACCACTGCACTCCAGCCTGGGTGACAGAGGGAAACTCTGTCTCAAAATAAAATATAATAAAATAAGCTCTCTGAGCTTTATTTTCCTCATTAGTAAAAAGGGAACCGACTCTTCAGGGATTTTGTGAGGATTAAATGAGATCATATGTACAAGTCAAGTACCTCCCACATAGAGGTACTGAGTGAATGTTATTATTTTTATGATTATTAATATATATTTTGTGTTCTCAAGAAAAAAGCTATTTATTTGAAGATATCAAACATATAATCAAATATTAAATGGATTAGTAGTAGCAATAAGTGTCATTGGAATCAGAACTCAAGAAAATATTTATGAGATTAATACTATTTTTAAATAACTTCATGATATTATATAAGTAGTATATACTCATTATAGGAAACTGGGGGAAGAGAGAGCAAAAAGCATAGAAGAAGTGTTTTAGGGACATTAAGACAAAATCCACACATACCTAATACCAGAAAGTGTCAGAGTTATGCCAATGGTACTTAAAGCTTATAAGATTTTCTAAAGGAAGTAAAATTTATCAACAAGAGAGTAGATATTTAAGTTGATATGGCTGCATAATGGAATACTATATAACTGTTAATAAAAATGAGGTAAATCTTTATGTCTTGTCTGGGAAAGATCACCAGAATATATTGTTAATTTTTAAAAGCAAGTTGAAGAACAAACCATACGTGGTTGTTTTGTTAAACATGTTTTCCTCTGAGATTTGGCTTTCTCTCTCACTTTACTTGCTCCTGCACTCTTTTTGTTCTGTTGCCACTTAGTAATAAAAAAGGATCTAAGAAAGGCAAAAAGAACATATAAAGGGAGGTGACAAAGGAAAGCAGGAGATGTCACAGAGCTCCAAAATAAAACAAAGAATACTTTCTTATCAATGAGCAAAGAGGCTAAAAACATCTGTTCCAATGTGATGGCCTGAAATGGATGTGGGTGTGGTAGCCTGAGTCCCGGGCCGTGTAAAGGGGAGATAGGAGGCCTGCCCCGCTCTGTGCTGTCGCCTCTTGGGAACCACAGATAACTCACTTGTAGCATTCTTTCCACTGAAGTGTTGAGCATCACTCAATAACTGTGCAGCAAAGCCCCAGTGGAATGTTGATATCGAAGAATAAAGAAAATACCTGCTTGATGGAATGTGAGATGAGAAGTAAACTAGACTTCACTGTTTACATTCATTCATTCATTCATTCAATGAATTCAACAACATTCAATGTGTTCAACAAACATTCATTGATGAGCAGGATGAGCCAGGATGATAACCCGGTCCCTCACAAGCGGTGTGAGCTCCCGTGCTATGATGCACACTGTGGCCGGACTCTCTGGCTCTGTTGTTTGACACCATCATAGCAGTAAGCATGACAGTAACGGCTGCAGTAACGTAAGATTATTTCCTAGAAGTCAATACAAAGGAAGAAATAACCTTATGCATCTGGCAGGCCTTCTGATCATGATACTTAAAAAAAAAAAGTCACATGATGCAAGGAAATAAAATGAAGCAAAACGAGAGAATGCAGGCTGCGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCAGGTAGATCACTTGAGGTCAGGC	190.8	PASS	AC=2;AF=1;AN=2;CILEN=-4,4;CIPOS=-5,5;CSQ=GTTTGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCGCTACTAAAAATACAAAAATTCGTTGGGTGTGGTGGCACATGTCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTAAACCCAGGAGGCAGAGTTGCAGTGAGCCAAGACTACACCACTGCACTCCAGCCTGGGTGACAGAGGGAAACTCTGTCTCAAAATAAAATATAATAAAATAAGCTCTCTGAGCTTTATTTTCCTCATTAGTAAAAAGGGAACCGACTCTTCAGGGATTTTGTGAGGATTAAATGAGATCATATGTACAAGTCAAGTACCTCCCACATAGAGGTACTGAGTGAATGTTATTATTTTTATGATTATTAATATATATTTTGTGTTCTCAAGAAAAAAGCTATTTATTTGAAGATATCAAACATATAATCAAATATTAAATGGATTAGTAGTAGCAATAAGTGTCATTGGAATCAGAACTCAAGAAAATATTTATGAGATTAATACTATTTTTAAATAACTTCATGATATTATATAAGTAGTATATACTCATTATAGGAAACTGGGGGAAGAGAGAGCAAAAAGCATAGAAGAAGTGTTTTAGGGACATTAAGACAAAATCCACACATACCTAATACCAGAAAGTGTCAGAGTTATGCCAATGGTACTTAAAGCTTATAAGATTTTCTAAAGGAAGTAAAATTTATCAACAAGAGAGTAGATATTTAAGTTGATATGGCTGCATAATGGAATACTATATAACTGTTAATAAAAATGAGGTAAATCTTTATGTCTTGTCTGGGAAAGATCACCAGAATATATTGTTAATTTTTAAAAGCAAGTTGAAGAACAAACCATACGTGGTTGTTTTGTTAAACATGTTTTCCTCTGAGATTTGGCTTTCTCTCTCACTTTACTTGCTCCTGCACTCTTTTTGTTCTGTTGCCACTTAGTAATAAAAAAGGATCTAAGAAAGGCAAAAAGAACATATAAAGGGAGGTGACAAAGGAAAGCAGGAGATGTCACAGAGCTCCAAAATAAAACAAAGAATACTTTCTTATCAATGAGCAAAGAGGCTAAAAACATCTGTTCCAATGTGATGGCCTGAAATGGATGTGGGTGTGGTAGCCTGAGTCCCGGGCCGTGTAAAGGGGAGATAGGAGGCCTGCCCCGCTCTGTGCTGTCGCCTCTTGGGAACCACAGATAACTCACTTGTAGCATTCTTTCCACTGAAGTGTTGAGCATCACTCAATAACTGTGCAGCAAAGCCCCAGTGGAATGTTGATATCGAAGAATAAAGAAAATACCTGCTTGATGGAATGTGAGATGAGAAGTAAACTAGACTTCACTGTTTACATTCATTCATTCATTCATTCAATGAATTCAACAACATTCAATGTGTTCAACAAACATTCATTGATGAGCAGGATGAGCCAGGATGATAACCCGGTCCCTCACAAGCGGTGTGAGCTCCCGTGCTATGATGCACACTGTGGCCGGACTCTCTGGCTCTGTTGTTTGACACCATCATAGCAGTAAGCATGACAGTAACGGCTGCAGTAACGTAAGATTATTTCCTAGAAGTCAATACAAAGGAAGAAATAACCTTATGCATCTGGCAGGCCTTCTGATCATGATACTTAAAAAAAAAAAGTCACATGATGCAAGGAAATAAAATGAAGCAAAACGAGAGAATGCAGGCTGCGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCAGGTAGATCACTTGAGGTCAGGC|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||83.1532||0.6540||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=219904293;PRECISE;RE=20;RNAMES=NULL;SVLEN=1775;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:20:51:191,51,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr2	32916206	cuteSV.DUP.1	C	<DUP>	610.7	PASS	AC=2;AF=1;AN=2;CSQ=duplication|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_gain_source%2C_TS%2C_OMIM_morbid+0.00)%3B2L_(LINC00486%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||||||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=32916626;PRECISE;RE=64;RNAMES=NULL;STRAND=-+;SVLEN=420;SVTYPE=DUP;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:64:99:611,163,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr2	32916266	cuteSV.BND.0	G	]chr5:11817446]N	76.4	PASS	AC=2;AF=1;AN=2;CSQ=]chr5:11817446]N|feature_truncation|HIGH|CTNND2|1501|Transcript|NM_001288717.2|protein_coding|||||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus,]chr5:11817446]N|feature_truncation|HIGH|CTNND2|1501|Transcript|NM_001332.4|protein_coding|||||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus,]chr5:11817446]N|feature_truncation|HIGH|CTNND2|1501|Transcript|NR_109988.2|misc_RNA|||||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;PRECISE;RE=8;RNAMES=NULL;SVTYPE=BND;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:8:20:76,20,0:AR,AD:U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr2	32916435	cuteSV.INS.173	G	GGGGTAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	954.2	PASS	AC=2;AF=1;AN=2;CILEN=-6,6;CIPOS=-10,10;CSQ=GGGTAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||87.2665||0.2280||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=32916435;PRECISE;RE=137;RNAMES=NULL;SVLEN=53;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:137:99:954,255,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr2	86226393	cuteSV.DEL.138	ACCTTAGTCCTCTGAAGTTCCTGTGTCCTTACCTGGAGCACAAGGAAGTATGACCCTGTTGTGG	A	458	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|REEP1|65055|Transcript|NM_001164730.2|protein_coding||6/6|NM_001164730.2:c.616+6169_616+6231del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||96.4705||0.6050||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|REEP1|65055|Transcript|NM_001164731.2|protein_coding||5/5|NM_001164731.2:c.514+6169_514+6231del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||96.4705||0.6050||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|REEP1|65055|Transcript|NM_001164732.2|protein_coding||4/4|NM_001164732.2:c.360+6169_360+6231del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||96.4705||0.6050||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|REEP1|65055|Transcript|NM_001371279.1|protein_coding||7/8|NM_001371279.1:c.631+907_631+969del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.014944052|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||96.4705||0.6050||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|REEP1|65055|Transcript|NM_001371280.1|protein_coding||5/5|NM_001371280.1:c.418-9346_418-9284del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||96.4705||0.6050||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|REEP1|65055|Transcript|NM_001410855.1|protein_coding||6/7|NM_001410855.1:c.595+6169_595+6231del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||96.4705||0.6050||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|REEP1|65055|Transcript|NM_001410856.1|protein_coding||7/7|NM_001410856.1:c.631+907_631+969del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||96.4705||0.6050||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|REEP1|65055|Transcript|NM_022912.3|protein_coding||6/6|NM_022912.3:c.595+6169_595+6231del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||96.4705||0.6050||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=86226456;PRECISE;RE=48;RNAMES=NULL;STRAND=+-;SVLEN=-63;SVTYPE=DEL;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:0:48:99:458,123,0:AR,AD:65055:1:U1,U1,U1,U1,U1,U1,U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr2	190880872	.	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	GCAGCAGCAGCAGCAGCAGCAGCAGCAGACAGCAGCAG	.	PASS	AC=2;AN=2;CSQ=ACAGCAGCAG|5_prime_UTR_variant|MODIFIER|GLS|2744|Transcript|NM_001256310.2|protein_coding|1/15||NM_001256310.2:c.-185_-166delinsACAGCAGCAG||80-99/4488||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.03411205|0|0|0||||AD&AR||||||||||||||||||93.1646||0.6620||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGCAGCAG|5_prime_UTR_variant|MODIFIER|GLS|2744|Transcript|NM_014905.5|protein_coding|1/18||NM_014905.5:c.-185_-166delinsACAGCAGCAG||80-99/4840||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.029268753|0|0|0||||AD&AR||||||||||||||||||93.1646||0.6620||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGCAGCAG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000127926|promoter|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.6377369|||||||||||||||||||||||||93.1646||0.6620||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGCAGCAG|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522155961||||||||||||1||-1||||||||||||||||ENSPFM0120||N||ERF::MAX&FLI1::MAX|||||||||||VUS|0.6377369|||||||||||||||||||||||||93.1646||0.6620||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGCAGCAG|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00008164746||||||||||||1||-1||||||||||||||||ENSPFM0113||N||TFAP4::ETV1&TFAP4::ETV4&TFAP4::FLI1&ETV2::FIGLA&ERF::FIGLA&FLI1::FIGLA&FLI1::TCF3&ETV5::FIGLA|||||||||||VUS|0.6377369|||||||||||||||||||||||||93.1646||0.6620||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGCAGCAG|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00207535362||||||||||||1||-1||||||||||||||||ENSPFM0162||N||ETV2::RFX5|||||||||||VUS|0.6377369|||||||||||||||||||||||||93.1646||0.6620||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str;Disease=GDPAG;END=190880920;Gene_id=GLS;HGNCId=4331;LOCUS=GLS;LocusStructure=(GCA)*;NormalMax=16;PathogenicMin=680;REF=16;RU=GCA;Repeat_id=GLS;SVTYPE=STR;VIPC_S=VUS;repeat_unit=GCA	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:12.7/12.7:6.7-16.7/6.7-16.7:38.2/38.2:20-50/20-50:42:AR,AD:2744:1:VUS,VUS,VUS,VUS,VUS,VUS:vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus
+chr2	240019522	cuteSV.DEL.151	TAAAAAGAACGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	T	53.8	PASS	AC=1;AF=0.4286;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|NDUFA10|4705|Transcript|NM_001322019.2|protein_coding||3/9|NM_001322019.2:c.461-1205_461-884del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.7863||0.0570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|NDUFA10|4705|Transcript|NM_001322020.2|protein_coding||3/8|NM_001322020.2:c.461-1205_461-884del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.7863||0.0570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|NDUFA10|4705|Transcript|NM_001410987.1|protein_coding||3/9|NM_001410987.1:c.461-1205_461-884del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.7863||0.0570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|NDUFA10|4705|Transcript|NM_004544.4|protein_coding||3/9|NM_004544.4:c.461-1205_461-884del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.7863||0.0570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant&non_coding_transcript_variant|MODIFIER|NDUFA10|4705|Transcript|NR_136155.2|misc_RNA||3/8|NR_136155.2:n.502-1205_502-884del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.09392604|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.7863||0.0570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant&non_coding_transcript_variant|MODIFIER|NDUFA10|4705|Transcript|NR_136156.2|misc_RNA||3/7|NR_136156.2:n.502-1205_502-884del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.09392604|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.7863||0.0570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant&non_coding_transcript_variant|MODIFIER|NDUFA10|4705|Transcript|NR_136157.2|misc_RNA||2/7|NR_136157.2:n.333-1205_333-884del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.09392604|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.7863||0.0570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant&non_coding_transcript_variant|MODIFIER|NDUFA10|4705|Transcript|NR_136158.2|misc_RNA||3/10|NR_136158.2:n.502-1205_502-884del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.09392604|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.7863||0.0570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=240019844;PRECISE;RE=15;RNAMES=NULL;STRAND=+-;SVLEN=-322;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIM:VIPC_S:VIPP_S	0/1:20:15:53:54,0,102:AD:0:U2,U2,U2,U2,U2,U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr3	63912714	.	GCCGCCGCC	GCCGCCGCCTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC	.	PASS	AC=2;AN=2;CSQ=TCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|frameshift_variant|HIGH|ATXN7|6314|Transcript|NM_000333.4|protein_coding|3/13||NM_000333.4:c.124_125insTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|NP_000324.1:p.Pro42LeufsTer59|700-701/7250|124-125/2679|42/892|P/LQPQRQQHPPPPPX|cct/cTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCCct||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.96436447|||||||AD||||||||||||||||||98.3646||0.9490||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,TCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|frameshift_variant|HIGH|ATXN7|6314|Transcript|NM_001177387.1|protein_coding|2/13||NM_001177387.1:c.124_125insTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|NP_001170858.1:p.Pro42LeufsTer59|234-235/6851|124-125/2838|42/945|P/LQPQRQQHPPPPPX|cct/cTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCCct||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.9308655|||||||AD||||||||||||||||||98.3646||0.9490||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,TCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|frameshift_variant|HIGH|ATXN7|6314|Transcript|NM_001377405.1|protein_coding|3/13||NM_001377405.1:c.124_125insTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|NP_001364334.1:p.Pro42LeufsTer59|526-527/7076|124-125/2679|42/892|P/LQPQRQQHPPPPPX|cct/cTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCCct||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.9590901|||||||AD||||||||||||||||||98.3646||0.9490||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,TCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|frameshift_variant|HIGH|ATXN7|6314|Transcript|NM_001377406.1|protein_coding|2/12||NM_001377406.1:c.124_125insTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|NP_001364335.1:p.Pro42LeufsTer59|205-206/6755|124-125/2679|42/892|P/LQPQRQQHPPPPPX|cct/cTCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCCct||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.97049797|||||||AD||||||||||||||||||98.3646||0.9490||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,TCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|upstream_gene_variant|MODIFIER|SCAANT1|100861563|Transcript|NR_148359.1|antisense_RNA|||||||||||1|950|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.3838046|||||||||||||||||||||||||98.3646||0.9490||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,TCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000153622|promoter|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.6725896|||||||||||||||||||||||||98.3646||0.9490||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,TCCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCC|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000009740||||||||||||1||1||||||||||||||||ENSPFM0086|6|N||EGR1&EGR2&EGR4&EGR3|||||||||||VUS|0.6725896|||||||||||||||||||||||||98.3646||0.9490||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus;Disease=SCA7;END=63912726;Gene_id=ATXN7;HGNCId=10560;LOCUS=ATXN7;LocusStructure=(GCA)*(GCC)+;NormalMax=33;PathogenicMin=37;REF=3;RU=GCC;Repeat_id=ATXN7;SVTYPE=STR;VIPC_S=U1,U2;repeat_unit=CAG	GT:AC:ACR:AL:ALR:ALT_MOTIF:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:14.5/14.5:2.7-16.7/2.7-16.7:43.4/43.4:8-50/8-50:CCGCGG,GCC(1):30:AR,AD:6314:1:U1,U1,U1,U1,U2,U2,U2:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&vid&exit_u2
+chr3	78730268	cuteSV.DEL.169	ACCAAATGCTTGCTAAGATAAAGCCTTTTCCAGAGACCACGTATAACTTGTTACCCTTGAAATTTACATTGACTTACATTCTGTAGAAGACTCATAACCATGGCAAAGTCAAATCAAGGTTGGGTATGCAAGGGATTCCTTGATATAGATTGACCAATTTTACTTTACAGAAATGCATTTTTTATTCAAAAATATAAACAGCATTTAATATTACTAATTAAGATTCTACAGAAGAAGAAATATTCCTAAAATAGCTACAAATTGAAGTAAACACTCACACACATTCTGTGGTATTTTAATC	A	353.1	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|ROBO1|6091|Transcript|NM_001145845.2|protein_coding||3/28|NM_001145845.2:c.541-12685_541-12386del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052||||||1|AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||89.0483||0.6820||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|ROBO1|6091|Transcript|NM_002941.4|protein_coding||5/30|NM_002941.4:c.658-12685_658-12386del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.014944052||||||1|AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||89.0483||0.6820||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|ROBO1|6091|Transcript|NM_133631.4|protein_coding||3/28|NM_133631.4:c.541-12685_541-12386del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014944052||||||1|AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||89.0483||0.6820||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=78730568;PRECISE;RE=37;RNAMES=NULL;STRAND=+-;SVLEN=-300;SVTYPE=DEL;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:0:37:94:353,94,0:AR,AD:6091:1:U1,U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr3	129172576	.	CAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGACAGGCAGCCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGG	ACAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGCCAGGCAGGCAGGCA	.	PASS	AC=2;AN=2;CSQ=ACAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGCCAGGCAGGCAGGCA|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127192.2|protein_coding||1/4|NM_001127192.2:c.-14-884_-14-845delinsTGCCTGCCTGCCTGG||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14383696|||||||AD||||||||||||||||||89.4026||0.2610||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGCCAGGCAGGCAGGCA|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127193.2|protein_coding||1/4|NM_001127193.2:c.-14-884_-14-845delinsTGCCTGCCTGCCTGG||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14383696|||||||AD||||||||||||||||||89.4026||0.2610||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGCCAGGCAGGCAGGCA|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127194.2|protein_coding||1/4|NM_001127194.2:c.-14-884_-14-845delinsTGCCTGCCTGCCTGG||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14383696|||||||AD||||||||||||||||||89.4026||0.2610||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGCCAGGCAGGCAGGCA|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127195.2|protein_coding||1/4|NM_001127195.2:c.-14-884_-14-845delinsTGCCTGCCTGCCTGG||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14383696|||||||AD||||||||||||||||||89.4026||0.2610||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGCCAGGCAGGCAGGCA|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127196.2|protein_coding||1/4|NM_001127196.2:c.-14-884_-14-845delinsTGCCTGCCTGCCTGG||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14383696|||||||AD||||||||||||||||||89.4026||0.2610||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,ACAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGCCAGGCAGGCAGGCA|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_003418.5|protein_coding||1/4|NM_003418.5:c.-14-884_-14-845delinsTGCCTGCCTGCCTGG||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.14383696|||||||AD||||||||||||||||||89.4026||0.2610||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str;Disease=DM2;END=129172656;Gene_id=CNBP;HGNCId=13164;LOCUS=CNBP;LocusStructure=(CAGG)*(CAGA)*(CA)*;NormalMax=30;PathogenicMin=50;REF=20;RU=CAGG;Repeat_id=CNBP;SVTYPE=STR;VIPC_S=LB;repeat_unit=CAGG	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:13.8/13.8:5.0-16.0/5.0-16.0:55.1/55.1:20-64/20-64:40:AR,AD:7555:1:LB,LB,LB,LB,LB,LB:vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb
+chr3	129172656	.	CAGACAGACAGACAGACAGACAGACAGACAGACAGACAGA	ACAGACAGACAGACAGACACACA	.	PASS	AC=2;AN=2;CSQ=ACAGACAGACAGACAGACACAC|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127192.2|protein_coding||1/4|NM_001127192.2:c.-14-923_-14-885delinsGTGTGTCTGTCTGTCTGTCTGT||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14429066|||||||AD||||||||||||||||||89.4026||0.0600||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,ACAGACAGACAGACAGACACAC|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127193.2|protein_coding||1/4|NM_001127193.2:c.-14-923_-14-885delinsGTGTGTCTGTCTGTCTGTCTGT||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14429066|||||||AD||||||||||||||||||89.4026||0.0600||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,ACAGACAGACAGACAGACACAC|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127194.2|protein_coding||1/4|NM_001127194.2:c.-14-923_-14-885delinsGTGTGTCTGTCTGTCTGTCTGT||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14429066|||||||AD||||||||||||||||||89.4026||0.0600||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,ACAGACAGACAGACAGACACAC|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127195.2|protein_coding||1/4|NM_001127195.2:c.-14-923_-14-885delinsGTGTGTCTGTCTGTCTGTCTGT||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14429066|||||||AD||||||||||||||||||89.4026||0.0600||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,ACAGACAGACAGACAGACACAC|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_001127196.2|protein_coding||1/4|NM_001127196.2:c.-14-923_-14-885delinsGTGTGTCTGTCTGTCTGTCTGT||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.14429066|||||||AD||||||||||||||||||89.4026||0.0600||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,ACAGACAGACAGACAGACACAC|intron_variant|MODIFIER|CNBP|7555|Transcript|NM_003418.5|protein_coding||1/4|NM_003418.5:c.-14-923_-14-885delinsGTGTGTCTGTCTGTCTGTCTGT||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.14429066|||||||AD||||||||||||||||||89.4026||0.0600||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus;Disease=DM2;END=129172696;Gene_id=CNBP;HGNCId=13164;LOCUS=CNBP;LocusStructure=(CAGG)*(CAGA)*(CA)*;NormalMax=30;PathogenicMin=50;REF=10;RU=CAGA;Repeat_id=CNBP;SVTYPE=STR;VIPC_S=U1;repeat_unit=CAGG	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:11.9/11.9:2.0-21.5/2.0-21.5:23.8/23.8:4-43/4-43:38:AR,AD:7555:1:U1,U1,U1,U1,U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr3	155814056	cuteSV.INS.218	A	ACCTCCAGGTTCACGCCATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTCGTGCTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTATTTCTTTAAGAGATAAATTGCCCCGGGCGTGGTGGCTCCTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACCGGACTCCAGCCTGGGTGACAGAGTGCGACCCCCCCCCAAAAAAAAAGAAATAAATTGCAAGAAAAATAAAAAAGATAACGAGAGTACCTATAGATTATAAAACTCTTTGCACCAACCAAAACATATGAATCATGATGCAAACAATGTGTTAATATACATGCATAAATCATGAGGAGACATCCAACAAACCAAATTGAGGGACATTTTTCAGGTTTCTTTTTGTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCGCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCTG	219.5	PASS	AC=2;AF=1;AN=2;CILEN=-2,2;CIPOS=-5,5;CSQ=CCTCCAGGTTCACGCCATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTCGTGCTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTATTTCTTTAAGAGATAAATTGCCCCGGGCGTGGTGGCTCCTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACCGGACTCCAGCCTGGGTGACAGAGTGCGACCCCCCCCCAAAAAAAAAGAAATAAATTGCAAGAAAAATAAAAAAGATAACGAGAGTACCTATAGATTATAAAACTCTTTGCACCAACCAAAACATATGAATCATGATGCAAACAATGTGTTAATATACATGCATAAATCATGAGGAGACATCCAACAAACCAAATTGAGGGACATTTTTCAGGTTTCTTTTTGTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCGCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCTG|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||86.5325||0.1320||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=155814056;PRECISE;RE=23;RNAMES=NULL;SVLEN=782;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:23:58:219,59,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr3	193582745	cuteSV.DEL.172	ATACATATATAAAATATATATGTATATTACATATATAAAATATATATGTATAT	A	56.5	PASS	AC=1;AF=0.5789;AN=2;CILEN=0,0;CIPOS=-33,33;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||18.4677||0.0000||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=193582797;PRECISE;RE=11;RNAMES=NULL;STRAND=+-;SVLEN=-52;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:8:11:27:56,0,28:AD:U2:vipc&gt&gq&vim&exit_u2
+chr3	197658855	cuteSV.INS.221	C	CCCTGCAGCCCCCACAGACAGAGAGACCCGTGTGTGAAGTCCGGGCTCCCTGGGCACCGGCCCTGCAGCCCCCACAGACAGAGAGACCCGTGTGTGAAGTCCGGGACTCCAGGCACCAGCCCTGCAGCCCCCACAGACAGAGAGACCCGTGTGTGTAAGTCCGGGCTCCTCAGGCACCGGCCCTGCAGCCCCCACAGACAGAGAGACCCGTGTGTGAAGTCCGGG	27.8	PASS	AC=1;AF=0.4211;AN=2;CILEN=-19,19;CIPOS=-44,44;CSQ=CCTGCAGCCCCCACAGACAGAGAGACCCGTGTGTGAAGTCCGGGCTCCCTGGGCACCGGCCCTGCAGCCCCCACAGACAGAGAGACCCGTGTGTGAAGTCCGGGACTCCAGGCACCAGCCCTGCAGCCCCCACAGACAGAGAGACCCGTGTGTGTAAGTCCGGGCTCCTCAGGCACCGGCCCTGCAGCCCCCACAGACAGAGAGACCCGTGTGTGAAGTCCGGG|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||61.5096||0.4830||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=197658855;PRECISE;RE=8;RNAMES=NULL;SVLEN=224;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:11:8:27:28,0,56:AD:U2:vipc&gt&gq&vim&exit_u2
+chr3	197663499	cuteSV.DEL.173	TTGCGTGCGTGTGTGTGCATGTGTGCGTGTGTGTGCACGTGTGTGTGCATGTGTG	T	76.8	PASS	AC=1;AF=0.5769;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00208100357||||||||||||1||1||1||||||||||||||ENSPFM0581||N||TEAD4::TCF3|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||57.0626||0.2300||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00458453937||||||||||||1||1||||||||||||||||ENSPFM0524||N||TEAD4::CLOCK|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||57.0626||0.2300||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00521395037||||||||||||1||1||||||||||||||||ENSPFM0566||N||TEAD4::MAX|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||57.0626||0.2300||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00459433007||||||||||||1||-1||||||||||||||||ENSPFM0526||N||TEAD4::CLOCK|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||57.0626||0.2300||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||57.0626||0.2300||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=197663553;PRECISE;RE=15;RNAMES=NULL;STRAND=+-;SVLEN=-54;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:11:15:38:77,0,39:AD:U2,U2,U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr5	1191886	cuteSV.INS.232	T	TAGGGAAGATGTCATGAGAGGGAAGGAGGCTAAGGAGGGGAGGCAAGGCTGAGAAATAGGGAAGATGTCATGA	52	PASS	AC=1;AF=0.5882;AN=2;CILEN=-1,1;CIPOS=-147,147;CSQ=AGGGAAGATGTCATGAGAGGGAAGGAGGCTAAGGAGGGGAGGCAAGGCTGAGAAATAGGGAAGATGTCATGA|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||91.7525||0.1180||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=1191886;PRECISE;RE=10;RNAMES=NULL;SVLEN=72;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:7:10:23:52,0,23:AD:U2:vipc&gt&gq&vim&exit_u2
+chr5	1192274	cuteSV.INS.233	T	TGAGGGGAGGAGTAAAGGCTGAGGAGTAGGGGAGGAAGGAGGAGTAAGGGGAGGCAAGGCTGAGAAATAGGGGAAGATGTCATGAGGGGAGGAAATGCTTAGGAGTAGGTCAGGGAGTGGGAAGATGTTCATGAG	60.9	PASS	AC=1;AF=0.5714;AN=2;CILEN=-7,7;CIPOS=-1,1;CSQ=GAGGGGAGGAGTAAAGGCTGAGGAGTAGGGGAGGAAGGAGGAGTAAGGGGAGGCAAGGCTGAGAAATAGGGGAAGATGTCATGAGGGGAGGAAATGCTTAGGAGTAGGTCAGGGAGTGGGAAGATGTTCATGAG|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||96.5746||0.1660||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=1192274;PRECISE;RE=12;RNAMES=NULL;SVLEN=134;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:9:12:32:61,0,32:AD:U2:vipc&gt&gq&vim&exit_u2
+chr5	1223559	cuteSV.INS.235	C	CACGGACAGGTCACCTCCGCTTTGCACGGAAGAATCTGGATGCTTACATTAAACTGGTGTTCTGAGAGTTCCT	73.5	PASS	AC=1;AF=0.5161;AN=2;CILEN=0,0;CIPOS=-36,36;CSQ=ACGGACAGGTCACCTCCGCTTTGCACGGAAGAATCTGGATGCTTACATTAAACTGGTGTTCTGAGAGTTCCT|upstream_gene_variant|MODIFIER|SLC6A18|348932|Transcript|NM_182632.3|protein_coding||||||||||rs1561171373|1|1821|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674||||||||||0.00200369|0.775976|0.00179413|0.00171246|2||T|||||||||89.2871||0.5460||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=1223559;PRECISE;RE=16;RNAMES=NULL;SVLEN=72;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:15:16:63:74,0,64:AD:U2:vipc&gt&gq&vim&exit_u2
+chr5	147000616	cuteSV.DEL.197	TTATGATCAGTAACTATTAGGTTGGTGCAAAAGTAATTGTGGATTTGCCATTTTTAATGGCAAAAACCACAATTAC	T	381.7	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|PPP2R2B|5521|Transcript|NM_001271899.1|protein_coding||2/9|NM_001271899.1:c.88+80368_88+80442del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||75.4627||0.0840||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|PPP2R2B|5521|Transcript|NM_001271900.2|protein_coding||2/10|NM_001271900.2:c.50+80368_50+80442del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||75.4627||0.0840||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|PPP2R2B|5521|Transcript|NM_181674.3|protein_coding||1/9|NM_181674.3:c.74+54974_74+55048del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||75.4627||0.0840||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|PPP2R2B|5521|Transcript|NM_181676.3|protein_coding||1/8|NM_181676.3:c.79+54974_79+55048del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||75.4627||0.0840||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|PPP2R2B|5521|Transcript|NM_181677.2|protein_coding||3/10|NM_181677.2:c.10+34478_10+34552del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||75.4627||0.0840||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|PPP2R2B|5521|Transcript|NM_181678.2|protein_coding||2/10|NM_181678.2:c.-49+80368_-49+80442del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||75.4627||0.0840||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=147000691;PRECISE;RE=40;RNAMES=NULL;STRAND=+-;SVLEN=-75;SVTYPE=DEL;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:0:40:99:382,102,0:AR,AD:5521:1:U1,U1,U1,U1,U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr6	31453721	cuteSV.DEL.200	TTATATATATATATATTTTTTTTTATTTTAATTTTTATTTTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTTGGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGATTCTTAACGAGCATGCTGCCTTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACCGATCAACAGGATCCCAAGGCAGAAGAATTTATCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTTCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCCCGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGAGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCTAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCTGCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCGGGGTGCTGATCCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGAGCTGACCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGTGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGCCGGGCAGGGGGCTGACCACCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGTGCTGATCCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGAGCTGACCCCACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGCTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCAGAGGGACTCCTCACTTCTCAGATGGGGCGGATGCTGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCAGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCCAGATGGGATGGCTGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACGTCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGTGGCTGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGATGGAGGTTGTAGCGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCAAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCTGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAGTACGAAAACCAGTCAGGCGTGGTGGCGCGCGCCTGCAATCGCAGGCACTCGGCCGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCATGGAAAGAGAGGGAGAGGGAGACCGAGAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGCAGAGGCAGAGGCAGAGGCAGAGCAGGAATTCAGATTTTTTTTTTTCCTTATATTTTTAATGA	T	114.5	PASS	AC=2;AF=1;AN=2;CILEN=-18,18;CIPOS=-1,1;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||55.4663||0.0110||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=31456624;PRECISE;RE=12;RNAMES=NULL;STRAND=+-;SVLEN=-2903;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:12:30:115,31,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr6	131482193	cuteSV.DEL.205	CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	C	173.3	PASS	AC=1;AF=0.6458;AN=2;CILEN=-1,1;CIPOS=-9,9;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||25.6116||0.0540||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=131482241;PRECISE;RE=31;RNAMES=NULL;STRAND=+-;SVLEN=-48;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:17:31:39:173,0,40:AD:U2:vipc&gt&gq&vim&exit_u2
+chr6	161691831	cuteSV.DEL.214	TTGTTGCTCTGCAAATGTCGATGAAGATCTTAAAGGCGTCTGGAATACTGATTTTGGGGTTACAAATAAGACTTAGCGAGTGGGCAAACAGCAAAGACAGAAACTGTGATGACACTGTCATCACACACTTTGAATACAATGTTTTCTGAGTTTGCCGATTTGTGGACTATCCTGAATTTGTGCTCAATTTTTATCTCTCTCCAACTGCTTATGTTTTGCCTCTCTCTCC	T	128.8	PASS	AC=1;AF=0.5814;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|PRKN|5071|Transcript|NM_004562.3|protein_coding||7/11|NM_004562.3:c.871+93713_871+93940del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||83.7184||0.6130||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|PRKN|5071|Transcript|NM_013987.3|protein_coding||6/10|NM_013987.3:c.787+93713_787+93940del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||83.7184||0.6130||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|PRKN|5071|Transcript|NM_013988.3|protein_coding||4/8|NM_013988.3:c.424+93713_424+93940del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||83.7184||0.6130||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=161692059;PRECISE;RE=25;RNAMES=NULL;STRAND=+-;SVLEN=-228;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIM:VIPC_S:VIPP_S	0/1:18:25:61:129,0,62:AD:0:U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr9	34169320	cuteSV.INS.299	G	GAACTCCTGGGCTCAACGATTCTCCCACCTCAGCTTCCCGAGTAGCTGGGACTACAGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGTGTGATCCCAGCTCACTGCAGCCTCC	219.5	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=-5,5;CSQ=AACTCCTGGGCTCAACGATTCTCCCACCTCAGCTTCCCGAGTAGCTGGGACTACAGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGTGTGATCCCAGCTCACTGCAGCCTCC|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||72.6119||0.4520||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=34169320;PRECISE;RE=23;RNAMES=NULL;SVLEN=117;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:23:58:219,59,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr9	69037261	.	AAAAAATACAAAAAAAAAAAAAAAA	TAAAAAATACAAAAAAAAAAAAAAAAAAAGAAGAA	.	PASS	AC=2;AN=2;CSQ=TAAAAAATACAAAAAAAAAAAAAAAAAAAGAAG|intron_variant|MODIFIER|FXN|2395|Transcript|NM_000144.5|protein_coding||1/4|NM_000144.5:c.165+1336_165+1337insAAAAAAGAAG||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.105459645|||||||AR||||||||||||||||||96.7709||0.4800||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,TAAAAAATACAAAAAAAAAAAAAAAAAAAGAAG|intron_variant|MODIFIER|FXN|2395|Transcript|NM_181425.3|protein_coding||1/4|NM_181425.3:c.165+1336_165+1337insAAAAAAGAAG||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.105459645|||||||AR||||||||||||||||||96.7709||0.4800||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus;Disease=FRDA;END=69037286;Gene_id=FXN;HGNCId=3951;LOCUS=FXN;LocusStructure=(A)*(GAA)*;NormalMax=34;PathogenicMin=66;REF=.;RU=.;Repeat_id=FXN;SVTYPE=STR;VIPC_S=U1;repeat_unit=GAA	GT:AC:ACR:AL:ALR:ALT_MOTIF:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:4.4/4.4:3.1-5.9/3.1-5.9:34.9/34.9:25-47/25-47:AAAAAAGA(21);TACAAAAAAA(4);AAG(4):29:AR,AD:2395:1:U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr9	69037286	.	GAAGAAGAAGAAGAAGAA	AAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	.	PASS	AC=2;AN=2;CSQ=AAGAAGAAGAAGAAGAAGAAGAAGAAGA|intron_variant|MODIFIER|FXN|2395|Transcript|NM_000144.5|protein_coding||1/4|NM_000144.5:c.165+1340_165+1353delinsAGAAGAAGAAGAAGAAGAAGAAGAAG||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.1082408|||||||AR||||||||||||||||||94.7392||0.4420||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,AAGAAGAAGAAGAAGAAGAAGAAGAAGA|intron_variant|MODIFIER|FXN|2395|Transcript|NM_181425.3|protein_coding||1/4|NM_181425.3:c.165+1340_165+1353delinsAGAAGAAGAAGAAGAAGAAGAAGAAG||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.1082408|||||||AR||||||||||||||||||94.7392||0.4420||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str;Disease=FRDA;END=69037304;Gene_id=FXN;HGNCId=3951;LOCUS=FXN;LocusStructure=(A)*(GAA)*;NormalMax=34;PathogenicMin=66;REF=6;RU=GAA;Repeat_id=FXN;SVTYPE=STR;VIPC_S=LB;repeat_unit=GAA	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:10.1/10.1:6.7-16.7/6.7-16.7:30.3/30.3:20-50/20-50:29:AR,AD:2395:1:LB,LB:vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb
+chr9	69050406	cuteSV.DEL.239	TTAAGAGTGGAGCTGATGATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	T	229	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|FXN|2395|Transcript|NM_000144.5|protein_coding||2/4|NM_000144.5:c.264-2733_264-2500del||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||93.0004||0.2070||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|FXN|2395|Transcript|NM_181425.3|protein_coding||2/4|NM_181425.3:c.264-2733_264-2500del||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||93.0004||0.2070||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|regulatory_region_ablation&regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000881806|open_chromatin_region|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.281192|||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||93.0004||0.2070||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=69050640;PRECISE;RE=24;RNAMES=NULL;STRAND=+-;SVLEN=-234;SVTYPE=DEL;VIPC_S=U1,U2	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:0:24:61:229,61,0:AR,AD:2395:1:U1,U1,U2:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2
+chr9	69088229	cuteSV.DEL.240	CCCGGCGACTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	C	62	PASS	AC=1;AF=0.4186;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||90.7098||0.2880||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=69088549;PRECISE;RE=18;RNAMES=NULL;STRAND=+-;SVLEN=-320;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:25:18:61:62,0,129:AD:U2:vipc&gt&gq&vim&exit_u2
+chr9	69095654	cuteSV.INS.300	C	CTATGATATTACAAAAATATTACAGTGTGTACACACA	53.8	PASS	AC=1;AF=0.4286;AN=2;CILEN=0,0;CIPOS=-2,2;CSQ=TATGATATTACAAAAATATTACAGTGTGTACACACA|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||94.3857||0.3850||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=69095654;PRECISE;RE=15;RNAMES=NULL;SVLEN=36;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:20:15:53:54,0,102:AD:U2:vipc&gt&gq&vim&exit_u2
+chr9	137888931	cuteSV.DEL.243	GGCTCAGGGATGACCTGACGCTGTGTCTGAAAACAGGTGACAGCCCAGAGACGCTGCCTTCCCGCAAGGCGACCTGACGCTGTGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCCGCAAGGCGACCTGACGCTGTGTCTGAACACAGGTGACAGCCCAGAGACGCTGCCTTCCCACAAGGCGACCTGACACTGTGTCTGAACACAGGTGACAAGAGACACTGTGCCCGAGGGGCCAGGACACGTTGGAGCATGGACCGAGCTGGGTGTGTCCGTGCTGTGACGGAACTCTTCTGCCACAGGCTCTGCTTCAGCCTGGGGTCCTTGGACTGCAGCCCTGCGGGAGGTGCAGCACCCCGACCTCCAGTGCCGGGTCGGGCTGGGGTTTGCCAGACATTCTCTCCCTTTCCCTACCAGAGTCTGGAAATGGCCTTTGTAGGCCCTGACCCTCCCTCCCTCACCCCTAGTGTGGCTGGAACCGGTGGAGCGGGGGCTGAGTTCTGACAAGTCCCTGGAAAGCAGGGAGAGCCCCCGTGTTCTGGGGCTGGGGCTGGGATCACTCCAGGCATTGCCTGACTGGGGGCTCCACAGCCCCCCTCGTGTCAGTGAGAACCCACCAACTCCACCCCACAATGCAGGGCCCTGGCCCACGTGCAGTCCATGTGGTGTGGCTGTGAGGACCAGGTGGGGCGGTGGCGGGTGGCTGCTGATCTAGGACCCTGTGACCAAGCTCTGGTGCCCCTTCCTGACAGTGGCCTCCCATCGGGCCTCCATGTCCGTGGGGACAGGCCTGGCAGCCATGCTGGGGATGTAACAGCCTGAGAAGGTGCTGCTCTGATAGGGTGGGATCCTGGCCCCCTCTTCAGCACACGCCCCTGGCTGGGTCCTTATGGAGGGCCTGGCCCATGCCCCCGCTCTCTTTCTCTGTGTCTCCCCCCTCCCTCTCTGCCTCCTTCCTGCATTTCAGGGTTCTTAACACTCTCCTGGACTGGGGGGCAGAACTGGGCCCACTGAGAGCCCCCAGGGTCCCCTGATTCTGTGCGGGGTGAGGGTCCACACTGCCCGGGCATGAGACCTGGGGCTTGGCTGTGCTGTGCTTGGGAGGCTGACCCTGGCCTTGGGCTCCAGTCCTGTGGGGTCTTCTCTGGGGTCTCCGCGTCTCCATGTGTGCTCTGCTGCCTGAGGAGCCCAAATCCAGAGACTCCCTGGATAGAAGCAGCGCGGGGCTGGCTCACTGGATGGGCATCGGGCCAGCGTTGCAGACGTCTGGGGCCTCTCATATGCCCGCCTGGCATAGCCGACCCAAGGGAGGGTTGGCCTCTCTGCGGATCTTTCACCATGGGGACTGGAGAGCTGAAGGAGCCCAGGGCTGCCCTTGGATACCGCAGACTTTCCCAGGGGGACGGGGGACATGGGTGGGAGATAAGGAAGGGAGGTTTCAGCTCAACCCAGAGAAGGACTTTCATCATTCATGGGGGTCTGGGCTGCTGTCCTCAGGCAAGTGGGGACTGGACCAGGTGGTCTGTCCTTTACTCATATGTCCCTGATATGGGCCAGGTACTTGCTGGGCACGATGGAGCCAGGGCCCTTCCCCCCAGGGTGCGTGTTCTGCCAACGGCAAAGTCCCCATGCCACAGGATCCACTCTGTGCTCCAGGCCTCTCCTCTCGACGGTGACTGCAGGCCGGGCTCCAGGGATGGGCGGTTCTGCAGGTGTGCAGAGTCCCCCTTACGCAGGTGTGCACAGAGTCCCCCTTACACGCCTTTCTCTTCAGGGGTCCCACCAGGAGGGTCAGTCGGAGGCTTGATTTCCTGCCCCAGCAGCTGGAGGGGTGGGGGTCCAGGGAGAGTGTGGTGGGGACAGTGAGCGGCAGAGCTGGAGGCCGTGAGGCT	G	48.1	PASS	AC=1;AF=0.4615;AN=2;CILEN=-2,2;CIPOS=-2,2;CSQ=-|splice_donor_variant&splice_donor_5th_base_variant&non_coding_transcript_exon_variant&intron_variant|HIGH|LOC100133077|100133077|Transcript|NR_121583.1|lncRNA|1/4|1/3|NR_121583.1:n.1744_2525+1114del||1744-?/3222||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.95444584|||||||||||||||||||||||||42.4858||0.5630||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=137890827;PRECISE;RE=12;RNAMES=NULL;STRAND=+-;SVLEN=-1896;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:14:12:48:48,0,67:AD:U2:vipc&gt&gq&vim&exit_u2
+chr9	137949143	cuteSV.INS.305	C	CTGTGTCTGATGTGTGTGGTGTGTGCACGCGGGCAGACGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTGGTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGCGCTTGTGTGTCCAGTGTGTGTGTATGGTGTATGTGTGTCTGGTATGTGTGTGGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCGTGTGTGTGGTGTATGTGTGTCTGTTGTGTGTGG	314.9	PASS	AC=2;AF=1;AN=2;CILEN=-1,1;CIPOS=-1,1;CSQ=TGTGTCTGATGTGTGTGGTGTGTGCACGCGGGCAGACGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTGGTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGCGCTTGTGTGTCCAGTGTGTGTGTATGGTGTATGTGTGTCTGGTATGTGTGTGGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCGTGTGTGTGGTGTATGTGTGTCTGTTGTGTGTGG|upstream_gene_variant|MODIFIER|CACNA1B-AS1|105376331|Transcript|NR_132977.1|lncRNA|||||||||||1|2083|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||82.1525||0.0710||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,TGTGTCTGATGTGTGTGGTGTGTGCACGCGGGCAGACGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTGGTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGCGCTTGTGTGTCCAGTGTGTGTGTATGGTGTATGTGTGTCTGGTATGTGTGTGGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCGTGTGTGTGGTGTATGTGTGTCTGTTGTGTGTGG|upstream_gene_variant|MODIFIER|CACNA1B-AS1|105376331|Transcript|NR_132978.1|lncRNA|||||||||||1|2083|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||82.1525||0.0710||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=137949143;PRECISE;RE=33;RNAMES=NULL;SVLEN=353;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:33:84:315,84,0:AR,AD:U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr12	6465361	cuteSV.DEL.44	TATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATA	T	39.8	PASS	AC=1;AF=0.3939;AN=2;CILEN=-1,1;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|VAMP1|6843|Transcript|NM_001297438.2|protein_coding||3/4|NM_001297438.2:c.288+430_289-421del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||20.9993||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|VAMP1|6843|Transcript|NM_014231.5|protein_coding||3/4|NM_014231.5:c.288+430_289-421del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||20.9993||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|VAMP1|6843|Transcript|NM_016830.4|protein_coding||3/4|NM_016830.4:c.288+430_289-421del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||20.9993||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|VAMP1|6843|Transcript|NM_199245.3|protein_coding||3/3|NM_199245.3:c.288+430_289-421del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||20.9993||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant&non_coding_transcript_variant|MODIFIER|VAMP1|6843|Transcript|NR_123717.2|misc_RNA||2/3|NR_123717.2:n.307+430_308-421del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.09392604|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||20.9993||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000449522|CTCF_binding_site|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.281192|||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||20.9993||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=6465412;PRECISE;RE=13;RNAMES=NULL;STRAND=+-;SVLEN=-51;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:20:13:39:40,0,107:AD:U2,U2,U2,U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr13	50977797	cuteSV.DEL.55	TTCCCAGTTAATGCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	T	85	PASS	AC=1;AF=0.5294;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000481940|enhancer|||||||||||1||||1|||||||||||||||||||||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||94.0731||0.0210||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||94.0731||0.0210||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=50978126;PRECISE;RE=18;RNAMES=NULL;STRAND=+-;SVLEN=-329;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:16:18:65:85,0,66:AD:U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr13	70139353	.	CTACTACTACTACTACTACTACTACTACTA	TACTACTACTACTACTACTACTACTACTACTACTACTACTACT	.	PASS	AC=2;AN=2;CSQ=TACTACTACTACTACTACTACTACTACTACTACTACTACTACT|non_coding_transcript_exon_variant|MODIFIER|ATXN8OS|6315|Transcript|NR_002717.2|antisense_RNA|5/5||NR_002717.2:n.1071_1072insTACTACTACTACT||1072-1101/1472||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.029284045|||||||AD||||||||||||||||||87.1311||0.0310||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus;Disease=SCA8;END=70139383;Gene_id=ATXN8;HGNCId=32925;LOCUS=ATXN8OS;LocusStructure=(CTA)*(CTG)*;NormalMax=50;PathogenicMin=74;REF=10;RU=CTA;Repeat_id=ATXN8;SVTYPE=STR;VIPC_S=U1;repeat_unit=CTG	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:14.2/14.2:12.3-15.3/12.3-15.3:42.6/42.6:37-46/37-46:46:AR,AD:6315:1:U1:vipc&gt&gq&vim&exit_u1
+chr14	74994983	cuteSV.DEL.71	AAACACACCAATCAGCACCCTGTGTTTAGCTCAAGGTTTGTGAGTGCACCAATCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTTTATGTCTAGCTCAGGGATTGTAAATACACCAATCGGCACTCTGTATCTAGCTCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTTTAGCTCAAGGTTTGTGAGTGCACCAATCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTTTATGTCTAGCTCAGGGATTGTAAATACACCAATCGGCACTCTGTATCTAGCTCAAGGTTTGT	A	67.2	PASS	AC=1;AF=0.5385;AN=2;CILEN=-1,1;CIPOS=-46,46;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||90.4515||0.1300||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=74995302;PRECISE;RE=14;RNAMES=NULL;STRAND=+-;SVLEN=-319;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:12:14:48:67,0,48:AD:U2:vipc&gt&gq&vim&exit_u2
+chr14	92071009	.	CTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCT	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCT	.	PASS	AC=2;AN=2;CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001127696.2|protein_coding|9/10||NM_001127696.2:c.872_873insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001121168.1:p.Asp292SerfsTer20|902-903/6839|872-873/1041|291/346|G/GSSSSSSSSSX|ggg/ggCAGCAGCAGCAGCAGCAGCAGCAGCAGCg|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.8383345|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001127697.3|protein_coding|8/9||NM_001127697.3:c.764_765insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001121169.2:p.Asp256SerfsTer20|794-795/6731|764-765/933|255/310|G/GSSSSSSSSSX|ggg/ggCAGCAGCAGCAGCAGCAGCAGCAGCAGCg|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.9962166|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001164774.2|protein_coding|3/4||NM_001164774.2:c.234_235insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001158246.1:p.Gly79GlnfsTer34|264-265/6201|234-235/267|78-79/88|-/QQQQQQQQQX|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGC|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.9995011|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001164776.2|protein_coding|4/5||NM_001164776.2:c.279_280insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001158248.1:p.Gly94GlnfsTer34|309-310/6246|279-280/312|93-94/103|-/QQQQQQQQQX|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGC|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.9996805|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001164777.2|protein_coding|3/4||NM_001164777.2:c.114_115insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001158249.1:p.Gly39GlnfsTer34|144-145/6081|114-115/147|38-39/48|-/QQQQQQQQQX|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGC|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.99811685|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001164778.2|protein_coding|6/7||NM_001164778.2:c.432_433insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001158250.1:p.Gly145GlnfsTer34|462-463/6399|432-433/465|144-145/154|-/QQQQQQQQQX|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGC|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.99806803|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001164779.2|protein_coding|6/7||NM_001164779.2:c.554_555insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001158251.1:p.Asp186SerfsTer20|584-585/6521|554-555/723|185/240|G/GSSSSSSSSSX|ggg/ggCAGCAGCAGCAGCAGCAGCAGCAGCAGCg|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.9973116|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001164780.2|protein_coding|7/8||NM_001164780.2:c.380_381insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001158252.1:p.Asp128SerfsTer20|651-652/6588|380-381/549|127/182|G/GSSSSSSSSSX|ggg/ggCAGCAGCAGCAGCAGCAGCAGCAGCAGCg|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.99809235|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001164781.2|protein_coding|8/9||NM_001164781.2:c.707_708insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001158253.1:p.Asp237SerfsTer20|737-738/6674|707-708/876|236/291|G/GSSSSSSSSSX|ggg/ggCAGCAGCAGCAGCAGCAGCAGCAGCAGCg|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.9972699|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_001164782.2|protein_coding|2/3||NM_001164782.2:c.69_70insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_001158254.1:p.Gly24GlnfsTer34|99-100/6036|69-70/102|23-24/33|-/QQQQQQQQQX|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGC|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.99809784|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_004993.6|protein_coding|10/11||NM_004993.6:c.917_918insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_004984.2:p.Asp307SerfsTer20|947-948/6884|917-918/1086|306/361|G/GSSSSSSSSSX|ggg/ggCAGCAGCAGCAGCAGCAGCAGCAGCAGCg|COSV61493521&COSV61496159|1||-1||1|EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.50983214|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|frameshift_variant|HIGH|ATXN3|4287|Transcript|NM_030660.5|protein_coding|9/10||NM_030660.5:c.752_753insCAGCAGCAGCAGCAGCAGCAGCAGCAGC|NP_109376.1:p.Asp252SerfsTer20|782-783/6719|752-753/921|251/306|G/GSSSSSSSSSX|ggg/ggCAGCAGCAGCAGCAGCAGCAGCAGCAGCg|COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.9969037|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028453.2|misc_RNA|9/10||NR_028453.2:n.861_862insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||861-862/6798|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2086445|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028454.2|misc_RNA|8/9||NR_028454.2:n.696_697insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||696-697/6633|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2451299|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028455.2|misc_RNA|10/11||NR_028455.2:n.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||915-916/6852|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.134045|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028456.2|misc_RNA|9/10||NR_028456.2:n.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||750-751/6687|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.18305105|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028457.2|misc_RNA|11/12||NR_028457.2:n.1006_1007insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||1006-1007/6943|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.15872987|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028458.2|misc_RNA|9/10||NR_028458.2:n.850_851insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||850-851/6787|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2086445|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028459.2|misc_RNA|11/12||NR_028459.2:n.1001_1002insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||1001-1002/6938|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.15872987|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028460.2|misc_RNA|5/6||NR_028460.2:n.376_377insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||376-377/6313|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2126647|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028461.2|misc_RNA|9/10||NR_028461.2:n.859_860insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||859-860/6796|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2086445|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028462.2|misc_RNA|9/10||NR_028462.2:n.838_839insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||838-839/6775|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2086445|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028463.2|misc_RNA|6/7||NR_028463.2:n.550_551insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||550-551/6487|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.27914554|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028464.2|misc_RNA|9/10||NR_028464.2:n.848_849insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||848-849/6785|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2086445|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028465.2|misc_RNA|9/10||NR_028465.2:n.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||870-871/6807|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2086445|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028466.2|misc_RNA|5/6||NR_028466.2:n.496_497insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||496-497/6433|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.23875448|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028467.2|misc_RNA|9/10||NR_028467.2:n.862_863insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||862-863/6799|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2086445|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028468.2|misc_RNA|8/9||NR_028468.2:n.694_695insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||694-695/6631|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2451299|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028469.2|misc_RNA|8/9||NR_028469.2:n.708_709insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||708-709/6645|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2451299|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_028470.2|misc_RNA|3/4||NR_028470.2:n.166_167insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||166-167/6103|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.23072036|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCTGCTGCTGCTGCTGCTGCTGCTGCTG|non_coding_transcript_exon_variant|MODIFIER|ATXN3|4287|Transcript|NR_031765.2|misc_RNA|4/5||NR_031765.2:n.363_364insCAGCAGCAGCAGCAGCAGCAGCAGCAGC||363-364/6300|||||COSV61493521&COSV61496159|1||-1|||EntrezGene|||||||||1&1|1&1||||||||||||||||||VUS|0.2126647|||||||AD||||||||||||||||||96.1395||0.0050||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str;Disease=SCA3;END=92071042;Gene_id=ATXN3;HGNCId=7106;LOCUS=ATXN3;LocusStructure=(GCT)*;NormalMax=10;PathogenicMin=18;REF=10.7;RU=CTG;Repeat_id=ATXN3;SVTYPE=STR;VIPC_S=LP;repeat_unit=CTG	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:19.9/19.9:17.7-21.7/17.7-21.7:59.6/59.6:53-65/53-65:38:AR,AD:4287:1:LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP,LP:vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp,vipc&str_pathogenic_min&exit_lp
+chr15	22786677	.	GCGGCGGCGGCGGCGGCGGCGGCG	GCAGCTGCGGCAGCGGCGGCGGCGGCGGCGGCGGC	.	PASS	AC=2;AN=2;CSQ=AGCTGCGGCAGCGGCGGCGGCGGCGGCGGCGGC|intron_variant|MODIFIER|NIPA1|123606|Transcript|NM_001142275.1|protein_coding||1/4|NM_001142275.1:c.-48+430_-48+431insAGCTGCGGCAG||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.1082408|||||||AD||||||||||||||||||99.505||0.9540||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,AGCTGCGGCAGCGGCGGCGGCGGCGGCGGCGGC|frameshift_variant|HIGH|NIPA1|123606|Transcript|NM_144599.5|protein_coding|1/5||NM_144599.5:c.22_23insAGCTGCGGCAG|NP_653200.2:p.Ala8GlufsTer38|36-57/6553|23-44/990|8-15/329|GRRRRRRR/ELRQRRRRRRRX|gGGCGGCGGCGGCGGCGGCGGCGg/gAGCTGCGGCAGCGGCGGCGGCGGCGGCGGCGGCg||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.9937577|||||||AD||||||||||||||||||99.505||0.9540||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,AGCTGCGGCAGCGGCGGCGGCGGCGGCGGCGGC|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000073999|promoter|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.6377369|||||||||||||||||||||||||99.505||0.9540||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus;END=22786701;LOCUS=NIPA1;REF=8;RU=GCG;SVTYPE=STR;VIPC_S=U1,U2	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:5.9/5.9:3.7-8.3/3.7-8.3:35.4/35.4:22-50/22-50:32:AR,AD:123606:1:U1,U1,U2:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2
+chr15	89342597	cuteSV.INS.111	C	CAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAATGCCCAGCTGCTTTTGCTTTTTTAAAAGACAGAGCTTCTCTCTGTCACCCAGGCTGGAGTACAGCAGTGCCTCCCAAGCAGCTGGGATTGCAGGTGTGCATCACCATGCCCAGATAAATTATTTTATTTTATTTTTTTAGAGATGCGAGTCTTGCTGTGTTGTTCAGGCTGATCTCGAACTCCTGGCCACAAGTGATCCTGCCTCCTCAGCCTCCCAAGGAGCTAGGATTACAAGCATGAGCCACCGCCCCCGGCTCATTCTGGTTATTTCAAGCAAGAAGAGATGTAATGCAGGGCTTGACCTACATGAATCAAGACAATTAGAAGTGCCAGAGGGGTGGACATCAGAGAGAGACTTGCTTCAAGGTTACACCATCACAGCTGTGATCTAGATCCAAAATCTGAAGGAAAGAAGGCCACTGTTGCTACAGCTACTGTTGCTGCCACCACACATGAAACCAGCGACTGGAGAGTGACACCTGGAGTTGGGCAGCCCCAAAGAGTCTTGTCAGCCAGAGCTTCCTGGTCTGTGCCAAGGCTACATGAGTGTTCACAGGCGGAATATAAGTCACAACCAGACCCCCAGCTGCAAGGGCATCTGGGAAAAGTAGTTCTTCGCCTTCTACCACCTGTAATTCCTGGGGGAACACAGGAGAGGGTGGGAATGGGGGCCAAGTTCCAATAGACAATATCTAGCAGGCAAGGCTGTACTATTTTATCTGTACCTCTGCCATGACATGTATCATCTCTACCTGGCCTAGGGACTGGGAATACACACACTGGTTCCCCACACTGGGAGCAGGGGCTGTTTCTTCATCACCTCGGCTCCTCCTGTGCCCAGCACAGTCTATCAGAGAACAAGTGCTCCATTGGTGTTTCTGGCTGAGTTGCTCATGTTTTCTGTTTTCCACAGGGATGGGGATTTAGGTGAGGAGCTGCCTGATTACCCTTTTTTTTTTTTGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTTACTGCAACCTCCGCCCTCTAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCACCTGCCACTACACTTAGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTT	171.8	PASS	AC=2;AF=1;AN=2;CILEN=-4,4;CIPOS=-4,4;CSQ=AAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAATGCCCAGCTGCTTTTGCTTTTTTAAAAGACAGAGCTTCTCTCTGTCACCCAGGCTGGAGTACAGCAGTGCCTCCCAAGCAGCTGGGATTGCAGGTGTGCATCACCATGCCCAGATAAATTATTTTATTTTATTTTTTTAGAGATGCGAGTCTTGCTGTGTTGTTCAGGCTGATCTCGAACTCCTGGCCACAAGTGATCCTGCCTCCTCAGCCTCCCAAGGAGCTAGGATTACAAGCATGAGCCACCGCCCCCGGCTCATTCTGGTTATTTCAAGCAAGAAGAGATGTAATGCAGGGCTTGACCTACATGAATCAAGACAATTAGAAGTGCCAGAGGGGTGGACATCAGAGAGAGACTTGCTTCAAGGTTACACCATCACAGCTGTGATCTAGATCCAAAATCTGAAGGAAAGAAGGCCACTGTTGCTACAGCTACTGTTGCTGCCACCACACATGAAACCAGCGACTGGAGAGTGACACCTGGAGTTGGGCAGCCCCAAAGAGTCTTGTCAGCCAGAGCTTCCTGGTCTGTGCCAAGGCTACATGAGTGTTCACAGGCGGAATATAAGTCACAACCAGACCCCCAGCTGCAAGGGCATCTGGGAAAAGTAGTTCTTCGCCTTCTACCACCTGTAATTCCTGGGGGAACACAGGAGAGGGTGGGAATGGGGGCCAAGTTCCAATAGACAATATCTAGCAGGCAAGGCTGTACTATTTTATCTGTACCTCTGCCATGACATGTATCATCTCTACCTGGCCTAGGGACTGGGAATACACACACTGGTTCCCCACACTGGGAGCAGGGGCTGTTTCTTCATCACCTCGGCTCCTCCTGTGCCCAGCACAGTCTATCAGAGAACAAGTGCTCCATTGGTGTTTCTGGCTGAGTTGCTCATGTTTTCTGTTTTCCACAGGGATGGGGATTTAGGTGAGGAGCTGCCTGATTACCCTTTTTTTTTTTTGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTTACTGCAACCTCCGCCCTCTAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGATTACAGGCACCTGCCACTACACTTAGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTT|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||48.1018||0.0030||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=89342597;PRECISE;RE=18;RNAMES=NULL;SVLEN=1233;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:18:45:172,46,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr15	92972557	cuteSV.DEL.82	TAAGATTCCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	T	410.3	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|CHD2|1106|Transcript|NM_001271.4|protein_coding||19/38|NM_001271.4:c.2505+143_2505+454del||||||||1||1||1|EntrezGene|||||||2|||||||||||||||||||||VUS|0.01628587|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||95.0775||0.3340||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=92972869;PRECISE;RE=43;RNAMES=NULL;STRAND=+-;SVLEN=-312;SVTYPE=DEL;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:0:43:99:410,110,0:AR,AD:1106:1:U1:vipc&gt&gq&vim&exit_u1
+chr16	31169642	cuteSV.DEL.86	CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGT	C	48.8	PASS	AC=1;AF=0.5;AN=2;CILEN=-1,1;CIPOS=-7,7;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||12.0287||0.1840||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=31169690;PRECISE;RE=11;RNAMES=NULL;STRAND=+-;SVLEN=-48;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:11:11:45:49,0,49:AD:U2:vipc&gt&gq&vim&exit_u2
+chr16	46389351	cuteSV.DEL.87	GAATAATCATCGAATGTAATCGAATGGACTCATCCAATGTAATCAAATGGAATCATCAA	G	27.2	PASS	AC=1;AF=0.3913;AN=2;CILEN=-13,13;CIPOS=-13,13;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||54.6109||||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=46389409;PRECISE;RE=9;RNAMES=NULL;STRAND=+-;SVLEN=-58;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:14:9:27:27,0,75:AD:U2:vipc&gt&gq&vim&exit_u2
+chr16	46390872	cuteSV.DEL.88	GAATCATCATCAAATGGATTCAAATGGAATCATTTTCGAATAGAATCGAATGGAATCATTGAATGGAATCATCATCAAATGGAGTCCAGAGGAATCACTGAATTGAATGGAATTATCATTGAATGGAATCGAATGGAATCATCAAATGGAATCTAATGGAATCAT	G	400.8	PASS	AC=2;AF=1;AN=2;CILEN=-5,5;CIPOS=-19,19;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=46391036;PRECISE;RE=42;RNAMES=NULL;STRAND=+-;SVLEN=-164;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:42:99:401,107,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr16	46394358	cuteSV.DEL.91	CATCGAATTGAACCCAATGGAATCATTAAATGGACTCGAATAGAATCATCGAATGGACTCGAATGGAATCATCATCGAATGGAATAGAATGGAGTCTGG	C	257.6	PASS	AC=2;AF=0.8857;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|0.0||64.6349||0.1540||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=46394456;PRECISE;RE=31;RNAMES=NULL;STRAND=+-;SVLEN=-98;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:4:31:51:258,51,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr16	46395216	cuteSV.DEL.92	TATGGACACGAATGGAATCATCATCGAATGGAACTGAATGGAATCATCGAATGGACTCGAATGGAATCATCATCGAATTGAATTCAAAGAAATCATCAAATGGACTTGAATGGAATCATGGAATGGACTCGAATGGAATCATCAACGAATGAAATCGAATGGAATCACCAAATGGTCATGAATGGAATCATCATCTAATAGCAACGAATGGAATCATCGAATGGACTCGAATGGAATATCATCGAATGGAATTAAAAGCAATCATCGAATGGACTCCAGTGGAATTATTGAATGGACGAAAATGGAATCTTTATCGAAAGGACTCAAAAAGAATGATTGAATGGTCTCGAATGGAATCATCGATTGGACTCAAATGGAATTACCGAATCTCTGCAAATGGAACCATCGAATGGACTCGAAAGGAATCATTATCAAATGGAATCAAATGGAACCATCAAATGGAATCGAATGGATCATCGAATGCAATTGATCAGAATCATCATCGAATGGAATCAAATGGAATCATCAAATAGAATCGAATGCAGTCATCATCAAATAGAATCGAGTGGAATCATCATCGAATACAATCGAATGGAATCATCAAATGGAATCACCATCGAATGGAATCAAATGGAATCATCATCAAATGGAATCGAAAAGAATCATCATCAAATGGAATCGAATGGAAGCATCATCGAATGGAATGCAAAGGAATCATCATCGAATATAACCGAATGTAATGATCATTGAATGGAAGCAAAAGGAGTCATCATCGAATGGATTCTGATGGAATCATCATTGAATGGAATCGAATGGAATCATCATGTAATGGAAAATATTGGAATCATCCAATGGAATTGAATGGAATCATCATCAAATGAATTGAATGCAATCATCAAATGGTCTCGAATGGAATCCTCATCAAATGGAATCGAATGGAATCATCGAATAGAATCAAATGTAATAATGATAGAATGGACTCGAATGGACTCAACATCAAATGGAATCGAATGGAATTATCAAATGGAATCAAATAGAATCATTGAGTGGACTCGAATGGAATCTTCGAATGCAATTGAATGGAATAGTCAACGGACCCTAATAGAATCATCATCCTATGGAATTAAATGGAATCATCAAATGTACTCGAATGGAATCTTCATCGAATGGAATCGAATGGAATCCTCGAATGGACTCGAATGGGAGCATTGAATGGATTCATCAAATGGAGTAGAATGGAATCATCATCGAATGGTATCGAATGGAATCATGGAATGGAATCAAATGGAATCATCATGGAATGGAATCGAACGGAATCATCAAATGGATTCGAATGGAATCTTCCTCGAAAGGAATCGAATGGAATCGTCCAATGGACACGAATGGAATCATCATCGAATGGAATCAAATGGAACCATCAAATTCAACAGAATGGAACCATTGAATGGACTTGAAATGAATCGTCATCGAATGGAATCGAATGGAATCATTGAAGGCCCTTGAAAGGAATCATCGAATTGACTCGAAAGGAATCATCACCTAGTGGAATCCAGTAGAATTATCGAATGGACTCGAAAGGAATCTTTGAATGGACTCAAATGGAATCATCATCGAATGGAATCTAATGGAATCATTGAATGGAGCCCTCATCGAATGTAATAAAAGTGAATCACCGAATGCACTAAAATGGGATGATCGAATAGCCTCGAATTGCATCATCATTAAACGGAATCAAATGGAGTCATCTCATGGACTCGAATGTAATCATCAAATGGACTCAAAAGGAATCATCATCAAGTGGAATCGAGTGAAATCGTCGAATGGACTCGAATGCCATCATCGAATGTGGTCGAATGGAATCATCATTGAATAGAATCTAATGGAATCATCACATGGGCTCGAATGTAATCATTATCGAATGGAATCATCATCGAATGGAATGGAATGGAATCATTGAATGGAATCGAATGGAATCATCATCAAATGGAATCAAAAGGAATAATCGAATGGACTCGAAGGGAATCATCGAATGAACTCTAATGGAATCATTATCAAACGGAATCCAATGGAATCATTG	T	181.3	PASS	AC=2;AF=0.8519;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.6109||0.1570||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=46397292;PRECISE;RE=23;RNAMES=NULL;STRAND=+-;SVLEN=-2076;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:4:23:30:181,31,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr16	46397460	cuteSV.DEL.93	TCAAATGGACTCGAATGGAATCATCTTCGAATGGAATCGAATGAAATCACAATCGAATGGAATGGAATGGAGTCATCATCTAATGGAGTCGAATGGAATCATCATTGAATATAATAGAATGGAGTCACCATATTGAATCAAATGGAGAGATCATCGAATGGAATTGAAGGGAATCATCGAATAGGAATGAAAGGAGTCATCAAATGGAATTGGGTGGAATCATCAAATGGATTCAAATGGAATGATCATCAAATGGAATTGAATGGTATCATCGAATGGACTCGAATGGAATCATCATCAAATGGAACCAAATGGAATCATCGAATGGACACGAATGCAATCATCATTGAGTGGAATCAAATGGAATCATTGAATGGCATCGAAAGGAATCATCATCGAATGTAGTCTAATTAAATAACCGAATGGACTCAAATAGAATCATCGAATCAAGTCGAATGGAATCATCATCGAATGGAATCCAATGGAATCATCGAATAGCATCAAATGGAATCATCGTCAAATGGATTCAAATGGAATCATCGAATGGACTCGAATGGAATCCTCATGGAATATAATCGAATGGAATCTTCGAATTGACTCGAATGGAATCATCATAGAATGGAATCTAATGGAATCATCGAATGGAATCGAATGGAATCATCATTGAATGGAATCGAGTAGAATCATTGAATGAAATCGAATGGAATCATCATCGAATGCAATCGGGTGGAATCATCAATGAATGGAATCGAATGGAATCAC	T	171.8	PASS	AC=2;AF=0.875;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001208754|CTCF_binding_site|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00401935367||||||||||||1||1||1||||||||||||||ENSPFM0403||N||MYBL1::MAX|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00205061352||||||||||||1||1||||||||||||||||ENSPFM0605|15|N||TFAP4::MAX|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00189087089||||||||||||1||-1||||||||||||||||ENSPFM0614||N||YY2&YY1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00185487286||||||||||||1||1||||||||||||||||ENSPFM0553||N||TEAD4::HES7|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00166321131||||||||||||1||1||||||||||||||||ENSPFM0531||N||TEAD4::ELK1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00165721312||||||||||||1||1||||||||||||||||ENSPFM0576||N||TEAD4::SOX15|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00165627280||||||||||||1||-1||||||||||||||||ENSPFM0487||N||RXRG&RXRA&RORB|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00204729320||||||||||||1||1||||||||||||||||ENSPFM0402|17|N||MYBL1::MAX|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00185398034||||||||||||1||-1||||||||||||||||ENSPFM0573||N||TEAD4::RFX5|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00186306547||||||||||||1||1||||||||||||||||ENSPFM0562||N||TEAD4::HOXB13|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00055693869||||||||||||1||-1||||||||||||||||ENSPFM0015||N||XBP1&CREB3&BATF3&JDP2&FOS&ATF7&JUN|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00185022142||||||||||||1||-1||||||||||||||||ENSPFM0559||N||TEAD4::HOXA13|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00209215182||||||||||||1||1||||||||||||||||ENSPFM0519||N||TEAD4::ALX4|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00170022760||||||||||||1||1||||||||||||||||ENSPFM0550||N||TEAD4::FOXI1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00165422095||||||||||||1||-1||||||||||||||||ENSPFM0529||N||TEAD4::DLX2&TEAD4::DLX3|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00060441440||||||||||||1||1||||||||||||||||ENSPFM0134||N||ETV2::CEBPD&ETV2::TEF&ERF::CEBPD&ELK1::TEF&FLI1::CEBPB&FLI1::CEBPD&ETV5::CEBPD|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00205723337||||||||||||1||-1||||||||||||||||ENSPFM0028||N||CEBPG::ELF1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00203777271||||||||||||1||1||||||||||||||||ENSPFM0506|9|N||TEAD4::SPIB&TEAD4::ELF1&TEAD4::ELK1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00000435175||||||||||||1||-1||||||||||||||||ENSPFM0508||N||SRF|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00122298644||||||||||||1||1||||||||||||||||ENSPFM0536||N||TEAD4::EOMES&TEAD4::TBX21|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00059865445||||||||||||1||1||||||||||||||||ENSPFM0113||N||TFAP4::ETV1&TFAP4::ETV4&TFAP4::FLI1&ETV2::FIGLA&ERF::FIGLA&FLI1::FIGLA&FLI1::TCF3&ETV5::FIGLA|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00204780280||||||||||||1||-1||||||||||||||||ENSPFM0617||N||ZBTB7B&ZBTB7A&ZBTB7C|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00209965481||||||||||||1||1||||||||||||||||ENSPFM0540||N||TEAD4::ERG|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00000399556||||||||||||1||-1||||||||||||||||ENSPFM0481||N||RFX3::SRF|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00188102441||||||||||||1||1||||||||||||||||ENSPFM0578||N||TEAD4::SPDEF|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00203547526||||||||||||1||1||||||||||||||||ENSPFM0216||N||GCM1::ELF1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00209389114||||||||||||1||-1||||||||||||||||ENSPFM0523||N||TEAD4::CEBPD|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00186444340||||||||||||1||-1||||||||||||||||ENSPFM0558||N||TEAD4::HOXA13|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00122428462||||||||||||1||-1||||||||||||||||ENSPFM0527||N||TEAD4::DLX2&TEAD4::DLX3|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00058162068||||||||||||1||1||||||||||||||||ENSPFM0103||N||ELK1::ONECUT2|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00208911564||||||||||||1||1||||||||||||||||ENSPFM0525||N||TEAD4::CLOCK&TEAD4::HES7|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00165866310||||||||||||1||1||||||||||||||||ENSPFM0577||N||TEAD4::SOX6|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00186411530||||||||||||1||1||||||||||||||||ENSPFM0581||N||TEAD4::TCF3|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00128480861||||||||||||1||1||||||||||||||||ENSPFM0549||N||TEAD4::FOXI1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00186411527||||||||||||1||-1||||||||||||||||ENSPFM0579||N||TEAD4::SPDEF|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00210009172||||||||||||1||-1||||||||||||||||ENSPFM0029||N||CEBPE&GCM1::CEBPB&CEBPG&CEBPB&TEAD4::CEBPD&CEBPD|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM01052212998||||||||||||1||1||||||||||||||||ENSPFM0038||N||CLOCK::NHLH1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM01051838076||||||||||||1||1||||||||||||||||ENSPFM0521||N||TEAD4::CEBPD&TEAD4::CEBPB|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00206549618||||||||||||1||-1||||||||||||||||ENSPFM0551||N||TEAD4::GATA3|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00057920275||||||||||||1||1||||||||||||||||ENSPFM0096||N||ELK1::FOXI1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00121796177||||||||||||1||-1||||||||||||||||ENSPFM0541||N||TEAD4::ESRRB|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00000351499||||||||||||1||1||||||||||||||||ENSPFM0042||N||CTCF|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00060860554||||||||||||1||1||||||||||||||||ENSPFM0162||N||ETV2::RFX5|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00211291772||||||||||||1||-1||||||||||||||||ENSPFM0565|7|N||TEAD4::MAX|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM01051744129||||||||||||1||1||||||||||||||||ENSPFM0139|13|N||ETV2::DLX3&HOXB2::ELF1&HOXB2::ELK3|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00332352852||||||||||||1||1||||||||||||||||ENSPFM0260||N||GCM2::MAX|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00185487263||||||||||||1||1||||||||||||||||ENSPFM0567||N||TEAD4::ONECUT2|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00119027022||||||||||||1||1||||||||||||||||ENSPFM0473||N||RFX3&RFX2&RFX4&RFX5|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00206027119||||||||||||1||1||||||||||||||||ENSPFM0205|9|N||ETV2::FOXI1&ERF::FOXI1&FOXO1::ELF1&FOXO1::ELK1&FLI1::FOXI1&ETV5::FOXI1&FOXJ2::ELF1&ERF::FOXO1&FOXO1::ELK3&FOXO1::ETV4&FOXO1::FLI1&ETV5::FOXO1|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00109110446||||||||||||1||-1||||||||||||||||ENSPFM0215||N||GCM1::CEBPB|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00207465523||||||||||||1||1||||||||||||||||ENSPFM0423||N||NR2F6&NR2F1&RARB&RARA&RARG|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM01052146004||||||||||||1||1||||||||||||||||ENSPFM0327||N||HOXB2::RFX5|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00126394379||||||||||||1||-1||||||||||||||||ENSPFM0555||N||TEAD4::HES7|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00121379887||||||||||||1||1||||||||||||||||ENSPFM0493||N||SOX6&SOX17|||||||||||VUS|0.281192|||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||54.5187||0.1530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=46398221;PRECISE;RE=21;RNAMES=NULL;STRAND=+-;SVLEN=-761;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:3:21:32:172,33,0:AR,AD:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr16	78574997	cuteSV.DEL.99	AATTATATATATATATATATATATAAATATATATATATATATATATATATAT	A	102.1	PASS	AC=1;AF=0.5;AN=2;CILEN=-1,1;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|WWOX|51741|Transcript|NM_001291997.2|protein_coding||7/7|NM_001291997.2:c.717+142248_717+142298del||||||||1||1|||EntrezGene|||||||2|||||||||||||||||||||VUS|0.014944052|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.271||0.0000||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|WWOX|51741|Transcript|NM_016373.4|protein_coding||8/8|NM_016373.4:c.1056+142248_1056+142298del||||||||1||1||1|EntrezGene|||||||2|||||||||||||||||||||VUS|0.014944052|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.271||0.0000||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=78575048;PRECISE;RE=23;RNAMES=NULL;STRAND=+-;SVLEN=-51;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIM:VIPC_S:VIPP_S	0/1:23:23:99:102,0,102:AD:0:U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr16	81085859	cuteSV.DEL.102	CAAAAACAAAAAAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C	362.6	PASS	AC=2;AF=0.9524;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|GCSH|2653|Transcript|NM_004483.5|protein_coding||3/4|NM_004483.5:c.292+1390_293-1266del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.0154812755|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||59.2041||0.3670||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant&non_coding_transcript_variant|MODIFIER|GCSH|2653|Transcript|NR_033249.2|misc_RNA||2/3|NR_033249.2:n.346-1617_346-1266del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.089635216|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||59.2041||0.3670||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001004231|open_chromatin_region|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.27090406|||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||59.2041||0.3670||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=81086211;PRECISE;RE=40;RNAMES=NULL;STRAND=+-;SVLEN=-352;SVTYPE=DEL;VIPC_S=U1,U2	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:2:40:88:363,88,0:AR,AD:2653:1:U1,U1,U2:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2
+chr16	87604287	.	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GCTGCCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	.	PASS	AC=2;AN=2;CSQ=GCTGC|frameshift_variant|HIGH|JPH3|57338|Transcript|NM_001271604.4|protein_coding|2/2||NM_001271604.4:c.429_430insGCTGC|NP_001258533.1:p.Pro144AlafsTer17|1068-1069/1410|429-430/561|143-144/186|-/AX|-/GCTGC||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.9824327|||||||AD||||||||||||||||||99.6181||0.2120||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCTGC|3_prime_UTR_variant|MODIFIER|JPH3|57338|Transcript|NM_001271605.3|protein_coding|2/2||NM_001271605.3:c.*127_*128insGCTGC||1219-1220/1561||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.012753069|||||||AD||||||||||||||||||99.6181||0.2120||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCTGC|intron_variant|MODIFIER|JPH3|57338|Transcript|NM_020655.4|protein_coding||1/4|NM_020655.4:c.382+758_382+759insGCTGC||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.1185356|||||||AD||||||||||||||||||99.6181||0.2120||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCTGC|intron_variant&non_coding_transcript_variant|MODIFIER|JPH3|57338|Transcript|NR_073379.3|misc_RNA||1/5|NR_073379.3:n.96+2356_96+2357insGCTGC||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.46436012|||||||AD||||||||||||||||||99.6181||0.2120||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus;Disease=HDL2;END=87604329;Gene_id=JPH3;HGNCId=14203;LOCUS=JPH3;LocusStructure=(CTG)*;NormalMax=28;PathogenicMin=41;REF=14;RU=CTG;Repeat_id=JPH3;SVTYPE=STR;VIPC_S=U1;repeat_unit=CAG	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:15.7/15.7:12.7-16.3/12.7-16.3:47.0/47.0:38-49/38-49:44:AR,AD:57338:1:U1,U1,U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr16	87671596	cuteSV.DEL.103	GCCTGCACCGGCTCAGTTCTGCGCCTGAGCTCCCAGCTCTGGGGTCCAGGCC	G	118.7	PASS	AC=1;AF=0.6562;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|JPH3|57338|Transcript|NM_020655.4|protein_coding||2/4|NM_020655.4:c.1161-12545_1161-12495del||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||83.7795||0.3220||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant&non_coding_transcript_variant|MODIFIER|JPH3|57338|Transcript|NR_073379.3|misc_RNA||2/5|NR_073379.3:n.875-12545_875-12495del||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.09992837|||||||AD||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||83.7795||0.3220||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000545509|CTCF_binding_site|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.3095948|||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||83.7795||0.3220||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=87671647;PRECISE;RE=21;RNAMES=NULL;STRAND=+-;SVLEN=-51;SVTYPE=DEL;VIPC_S=U1,U2	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	0/1:11:21:23:119,0,23:AD:57338:1:U1,U1,U2:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2
+chr18	58863530	cuteSV.INS.140	C	CGACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG	305.4	PASS	AC=2;AF=1;AN=2;CILEN=-1,1;CIPOS=-1,1;CSQ=GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001318728.2|protein_coding|||||||||||1|560|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353527.2|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353528.2|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353529.2|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353531.2|protein_coding|||||||||||1|828|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353532.2|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353534.2|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353535.2|protein_coding|||||||||||1|828|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353536.2|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353537.2|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001353538.2|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001375912.1|protein_coding|||||||||||1|1346|1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,GACCCCCAGCCGTAGGCCCCGGCGTGGCGGGCCGGCCGCCGCCGCCGCCGCGCGGCCTGAGCGCGGTGCCCGGGAGGCGCGGGGCCCGGGCCGGGGCGCTGGCGAGGCCCGGCGGCGGCGGCGGCGGCGGCCGGGAGCTCGGTGGAGGCGGCGG|upstream_gene_variant|MODIFIER|ZNF532|55205|Transcript|NM_001375913.1|protein_coding|||||||||||1|1346|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||56.6118||0.8160||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=58863530;PRECISE;RE=32;RNAMES=NULL;SVLEN=154;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:32:81:305,82,0:AR,AD:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr18	62125103	cuteSV.DEL.120	CGTTTGTACATATGTGTATATAAATATACACGTTTGTACATATGTGTATATACAT	C	46.8	PASS	AC=1;AF=0.4118;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|PIGN|23556|Transcript|NM_012327.6|protein_coding||13/29|NM_012327.6:c.1173-10518_1173-10465del|||||||rs1568202734|1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.0154812755|||||||AR|||0.00012222|0.858834|7.619e-05|6.237e-05|0||G|||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||83.9769||0.0400||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|PIGN|23556|Transcript|NM_176787.5|protein_coding||14/30|NM_176787.5:c.1173-10518_1173-10465del|||||||rs1568202734|1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.0154812755|||||||AR|||0.00012222|0.858834|7.619e-05|6.237e-05|0||G|||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||83.9769||0.0400||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=62125157;PRECISE;RE=14;RNAMES=NULL;STRAND=+-;SVLEN=-54;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIM:VIPC_S:VIPP_S	0/1:20:14:46:47,0,104:AD:0:U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr18	62185665	cuteSV.INS.146	C	CCTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG	543.9	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NM_001346229.2|protein_coding|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NM_001346230.2|protein_coding|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NM_001346231.2|protein_coding|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NM_001346233.2|protein_coding|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NM_001346234.2|protein_coding|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NM_001346235.2|protein_coding|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NM_020854.4|protein_coding|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144403.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144404.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144405.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144406.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144407.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144408.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144409.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144410.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CTGATAGCACTAATTACTACTGCCTATGTATTCGGCATTTACTGGAAG|upstream_gene_variant|MODIFIER|RELCH|57614|Transcript|NR_144412.2|misc_RNA|||||||||||1|1589|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.1525||0.8270||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=62185665;PRECISE;RE=57;RNAMES=NULL;SVLEN=48;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:57:99:544,146,0:AR,AD:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr19	3989887	cuteSV.INS.151	C	CTTTGGGAGGCCAAGGTGGGCGGGGCCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACACGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACTGTGTCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAAAAAAAAAAGAAAAGAAACTAAAAAAAAAAAAAAAAAGGAATAGGAGCTCCAAGCAAAAGCTGGTACTTCTGACCACATAGCTATGCAAAGCCTTTATAATGATGGATTTATGCAGCCCCAGTTCTTGAGGCTTAAACTGAGGGTCTCGGTCTGTCCAGACTCCCCCTTCTGCTGAGGGCTCCCAATGCAACCTTAGGGACGTGCATTAGAGCCTTGGCCGGCCTGTTTTTGCATTTCTTAGTTTTTGGCTGCCCTGAGGGCCCCTCCGGGGTAGGGACTTTCCACTGGGCCACACCCACCTTGCCTGCAAACACAAGCATCAGTTTTTCCCCTGGTTTTCAACTTCTCCCAAAACCCAGTTCCTAACATTCCTCAGACCCTGGCACTCATGTGTTCAGCAAACATGGGACCCAGCTTAAAACACACTCAGAGAGAGAAATCCCTGCCCTCCGGAGATGGCGGGCTGGAGAGGAAATAGCCAATCAAATATCTGCACAAATGGAAGCTCTCAAATTGCACTAGGAGGGCAAGGGAGACCGAGTAAAGAGAGGGCATAATAGAGGAGGAAAGGCCGGGCGTGGTGATTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATATCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTTTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCAGCTGTAGTCCCAGTTAGTCTGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGAGCTACGGCACTCCAGCCTGAGTGACAGAGTGAGACTTCGTCTCATAAAAATGAAAAAACAAAAACAAAAACAGGAGAGGACTAGATGTATCGTGGCGAATCAGGGAGGGCATCATGGAGGAGGAGATTTTATTTTATTTTTTTTCTTGAGACGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCGCCCGGCCAAATAATAATAATATTAAAATAACGCAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAGCCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAATAAAATAAAATAAAAATAAAAAATAAAGCGTAACCTATATACAGAAAGAACATGAATCGAATGTATAAAGTCTCGTGATTTTCACAAACTGAAAACACTCCAGTACGCAGCACCAAGATCTAACAACACACAATGTGACCAGGCCCCAGAAACACCCTCTGCCCCTGCCAAGGAACCCCTCCTATCTCCTGACACAGATTTTTTTTGTGTGGCCTATTTTTGAGCTTCTCACACCTTGATGGTGCAGCACAGCCTCTTCTGGATCCAGCCTCTTCTTGCACTCAATGTTACCTAGAAGGATTTGTCCACTTTGTGGGTGGCTGACATTTGTGCATCCTCACTGCTGTGTTCTCTTTTTTTTTTGAGACGGAGTCTCACTCTGGGTCCCAGGTTGGAGTGCAATGGTACAATCTCAGCTCACTGCAACCTCCACCTCCTGAGCTCAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTAAAGGCACATGCCACCATGCCCGACTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCCAGTGATCTGTCTGCCTCTGCCTCCCAAAGTGCTGGGAATACAGGTGTGAGGCACCGCGCCAGGCCGCCCAGGGGTCTTTTTTTCCCCCAGAAGGAGTCTTTCCCAGGCTGGTCTGGAACTATAGGCTCAACTGGTCCCCCTACCACAGACTCCTGAGCAGCTGGTGTTACAGGCAGGAACCCATGCACCTGACTAACCTCCCGTGTGGATTCTGCTCCAAGGGGACACTTAGCAATGTCTGGGGATATGCATGGTTCTTACGACTTGGGGTGCTCCTGGCATAGAGTGGGTGGAGGCCAGGGATGCTGCTTAGCGCCCTAAAGTGCCCAGGACTCCCCACCCTGGAGAAGGATCTGGCCCCAAATGTTGATGATGTTGAGGTTGCAATTGAAATCCTGCCTCAATTATTTGGAAAAAACATTGAGATCCGGAGTTGAACTTCCCAGTGGGGTCAACAGCATATATCAGGGAGACCCAGCTCCCGGGATTCCCCTCCTCTCTCCCTCCCCACGCAGGGTGTGAATTTCAATGTGCGCAGCCTCCTGGGACCTCAGCAGGGCAGAGAATTGAGAACACACAGTCTCTTGGAGGTCCGTGGAATCCCCTAACCAGGGGGTCTAGACCAAGGTCGATCCTGCCTCCCCAGGGGACACTGGCAATGTCTGGGGACATTTGTGCTTGCCCTGGCAGAATGGGTGCTGTTCAGCACCCTGCTCCAGATGGCCCCCCAAGAGAATTATCTAGCCCGTTGTCAACAGTGCTGTGCTTTAGTAGCGCTGAACATAATTGTTTAAAATTATGAAATGCAGAAACTATTTCAGAGTTGCTATGCAGGTTGTATTCATTCATTCCACACATACTTATAGAGCAGTTTGTTTCTGCCAGGCATTAACTGAGGGACTGGGGACACAGTTCCTGGTGGGGCTGACATTCCAGTGAAGGTGACGGCAGGGAGGTGATGGGGCAGGTTGTGCACGGCATTGTGGGCCTCAGGGAAGACTGGCGCTTTTATCCAGAGGAAGGTGGGAGCCATAGAGGGCGGTGGGCAGAGAAGGGACAGGGTTTCCATCAGGTGCTCACACACGCCCTCTGCTGGCTGCTTTGGGGAGAACAGACTGTAGGTGGGAAGGGCAGGAGGCTGAAATCAGCTGAAAAAAAGCGGCAGGTTCCCGCAGCTCAGGGTACCTTCAGGGCACTGGAAACCCACTGTGTGAGCAGCTTGCACCTGGGCCCTTTGCACTGCCCCATGGGACTTGGAGGACTTGGGGAACAGATGCCAACATGATGTTCATTTGGCCCGCTGTGGTGTGAGTTTGTTTAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCACAATCTCAGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTGGGGCCGGCTAATTCTGTATTTTTAGGAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCCGAACTCAGGTAATCTCCCCGCCTCAGCCTCCCAAAGTGCTGGGCTTAGAGGCGTGAGTCACCGCACCCGTCGGAGTCTATCTTTTCAAATCTCTTGGGTATATGCCCAGGAGTGGGATTGCTGCCTTGTTAATGTTTCTCAAACAGCCGGGAGCGGTGGCTCACGCCTGTAATCT	95.4	PASS	AC=2;AF=1;AN=2;CILEN=-5,5;CIPOS=-3,3;CSQ=TTTGGGAGGCCAAGGTGGGCGGGGCCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACACGAAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACTGTGTCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAAAAAAAAAAGAAAAGAAACTAAAAAAAAAAAAAAAAAGGAATAGGAGCTCCAAGCAAAAGCTGGTACTTCTGACCACATAGCTATGCAAAGCCTTTATAATGATGGATTTATGCAGCCCCAGTTCTTGAGGCTTAAACTGAGGGTCTCGGTCTGTCCAGACTCCCCCTTCTGCTGAGGGCTCCCAATGCAACCTTAGGGACGTGCATTAGAGCCTTGGCCGGCCTGTTTTTGCATTTCTTAGTTTTTGGCTGCCCTGAGGGCCCCTCCGGGGTAGGGACTTTCCACTGGGCCACACCCACCTTGCCTGCAAACACAAGCATCAGTTTTTCCCCTGGTTTTCAACTTCTCCCAAAACCCAGTTCCTAACATTCCTCAGACCCTGGCACTCATGTGTTCAGCAAACATGGGACCCAGCTTAAAACACACTCAGAGAGAGAAATCCCTGCCCTCCGGAGATGGCGGGCTGGAGAGGAAATAGCCAATCAAATATCTGCACAAATGGAAGCTCTCAAATTGCACTAGGAGGGCAAGGGAGACCGAGTAAAGAGAGGGCATAATAGAGGAGGAAAGGCCGGGCGTGGTGATTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATATCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTTTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCAGCTGTAGTCCCAGTTAGTCTGGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGAGCTACGGCACTCCAGCCTGAGTGACAGAGTGAGACTTCGTCTCATAAAAATGAAAAAACAAAAACAAAAACAGGAGAGGACTAGATGTATCGTGGCGAATCAGGGAGGGCATCATGGAGGAGGAGATTTTATTTTATTTTTTTTCTTGAGACGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAGTTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCGCCCGGCCAAATAATAATAATATTAAAATAACGCAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAGCCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAATAAAATAAAATAAAAATAAAAAATAAAGCGTAACCTATATACAGAAAGAACATGAATCGAATGTATAAAGTCTCGTGATTTTCACAAACTGAAAACACTCCAGTACGCAGCACCAAGATCTAACAACACACAATGTGACCAGGCCCCAGAAACACCCTCTGCCCCTGCCAAGGAACCCCTCCTATCTCCTGACACAGATTTTTTTTGTGTGGCCTATTTTTGAGCTTCTCACACCTTGATGGTGCAGCACAGCCTCTTCTGGATCCAGCCTCTTCTTGCACTCAATGTTACCTAGAAGGATTTGTCCACTTTGTGGGTGGCTGACATTTGTGCATCCTCACTGCTGTGTTCTCTTTTTTTTTTGAGACGGAGTCTCACTCTGGGTCCCAGGTTGGAGTGCAATGGTACAATCTCAGCTCACTGCAACCTCCACCTCCTGAGCTCAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTAAAGGCACATGCCACCATGCCCGACTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCCAGTGATCTGTCTGCCTCTGCCTCCCAAAGTGCTGGGAATACAGGTGTGAGGCACCGCGCCAGGCCGCCCAGGGGTCTTTTTTTCCCCCAGAAGGAGTCTTTCCCAGGCTGGTCTGGAACTATAGGCTCAACTGGTCCCCCTACCACAGACTCCTGAGCAGCTGGTGTTACAGGCAGGAACCCATGCACCTGACTAACCTCCCGTGTGGATTCTGCTCCAAGGGGACACTTAGCAATGTCTGGGGATATGCATGGTTCTTACGACTTGGGGTGCTCCTGGCATAGAGTGGGTGGAGGCCAGGGATGCTGCTTAGCGCCCTAAAGTGCCCAGGACTCCCCACCCTGGAGAAGGATCTGGCCCCAAATGTTGATGATGTTGAGGTTGCAATTGAAATCCTGCCTCAATTATTTGGAAAAAACATTGAGATCCGGAGTTGAACTTCCCAGTGGGGTCAACAGCATATATCAGGGAGACCCAGCTCCCGGGATTCCCCTCCTCTCTCCCTCCCCACGCAGGGTGTGAATTTCAATGTGCGCAGCCTCCTGGGACCTCAGCAGGGCAGAGAATTGAGAACACACAGTCTCTTGGAGGTCCGTGGAATCCCCTAACCAGGGGGTCTAGACCAAGGTCGATCCTGCCTCCCCAGGGGACACTGGCAATGTCTGGGGACATTTGTGCTTGCCCTGGCAGAATGGGTGCTGTTCAGCACCCTGCTCCAGATGGCCCCCCAAGAGAATTATCTAGCCCGTTGTCAACAGTGCTGTGCTTTAGTAGCGCTGAACATAATTGTTTAAAATTATGAAATGCAGAAACTATTTCAGAGTTGCTATGCAGGTTGTATTCATTCATTCCACACATACTTATAGAGCAGTTTGTTTCTGCCAGGCATTAACTGAGGGACTGGGGACACAGTTCCTGGTGGGGCTGACATTCCAGTGAAGGTGACGGCAGGGAGGTGATGGGGCAGGTTGTGCACGGCATTGTGGGCCTCAGGGAAGACTGGCGCTTTTATCCAGAGGAAGGTGGGAGCCATAGAGGGCGGTGGGCAGAGAAGGGACAGGGTTTCCATCAGGTGCTCACACACGCCCTCTGCTGGCTGCTTTGGGGAGAACAGACTGTAGGTGGGAAGGGCAGGAGGCTGAAATCAGCTGAAAAAAAGCGGCAGGTTCCCGCAGCTCAGGGTACCTTCAGGGCACTGGAAACCCACTGTGTGAGCAGCTTGCACCTGGGCCCTTTGCACTGCCCCATGGGACTTGGAGGACTTGGGGAACAGATGCCAACATGATGTTCATTTGGCCCGCTGTGGTGTGAGTTTGTTTAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCACAATCTCAGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTGGGGCCGGCTAATTCTGTATTTTTAGGAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCCGAACTCAGGTAATCTCCCCGCCTCAGCCTCCCAAAGTGCTGGGCTTAGAGGCGTGAGTCACCGCACCCGTCGGAGTCTATCTTTTCAAATCTCTTGGGTATATGCCCAGGAGTGGGATTGCTGCCTTGTTAATGTTTCTCAAACAGCCGGGAGCGGTGGCTCACGCCTGTAATCT|upstream_gene_variant|MODIFIER|EEF2|1938|Transcript|NM_001961.4|protein_coding|||||||||||1|4424|-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||AD||||||||||||||||||84.5895||0.5220||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=3989887;PRECISE;RE=10;RNAMES=NULL;SVLEN=4044;SVTYPE=INS;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:0:10:25:95,26,0:AR,AD:1938:1:U1:vipc&gt&gq&vim&exit_u1
+chr19	13544409	cuteSV.INS.159	T	TATATATACATATATATAATATATACATATATATAAATATATATAC	77.5	PASS	AC=1;AF=0.6364;AN=2;CILEN=-2,2;CIPOS=-8,8;CSQ=ATATATACATATATATAATATATACATATATATAAATATATATAC|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||92.713||0.0200||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=13544409;PRECISE;RE=14;RNAMES=NULL;SVLEN=45;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:8:14:20:77,0,20:AD:U2:vipc&gt&gq&vim&exit_u2
+chr19	13633948	cuteSV.INS.161	C	CTTTTCCTTCCTTCCTTCCCTTCCTACCCTGTGTGTGTGTGT	104.1	PASS	AC=1;AF=0.5882;AN=2;CILEN=-5,5;CIPOS=-17,17;CSQ=TTTTCCTTCCTTCCTTCCCTTCCTACCCTGTGTGTGTGTGT|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||88.7229||0.0450||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=13633948;PRECISE;RE=20;RNAMES=NULL;SVLEN=41;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:14:20:46:104,0,47:AD:U2:vipc&gt&gq&vim&exit_u2
+chr19	43788241	cuteSV.DEL.129	ATTATTATAAATATTTATATTTATAATATTATAAATATTTATATTTATAATATTATAAATATTTATATTTATAATATTATAAATATTTATATTTAT	A	64	PASS	AC=1;AF=0.4839;AN=2;CILEN=-1,1;CIPOS=-1,1;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||59.1632||0.0400||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=43788336;PRECISE;RE=15;RNAMES=NULL;STRAND=+-;SVLEN=-95;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:16:15:63:64,0,74:AD:U2:vipc&gt&gq&vim&exit_u2
+chr19	43788269	cuteSV.DEL.130	TTATAAATATTTATATTTATAATATTATAAATATTTATATTTATAATA	T	66.6	PASS	AC=1;AF=0.5;AN=2;CILEN=0,0;CIPOS=-4,4;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||59.1632||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=43788316;PRECISE;RE=15;RNAMES=NULL;STRAND=+-;SVLEN=-47;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:15:15:63:67,0,67:AD:U2:vipc&gt&gq&vim&exit_u2
+chr19	45371607	cuteSV.INS.167	C	CCAGAGTAGCTGGGACCACAGGTGTACAGCTCACTGCAGCCTCCACCTCTTGGGCTCAAGCGATCCTCCCACCTCAGCTT	81.2	PASS	AC=1;AF=0.5714;AN=2;CILEN=0,0;CIPOS=-11,11;CSQ=CAGAGTAGCTGGGACCACAGGTGTACAGCTCACTGCAGCCTCCACCTCTTGGGCTCAAGCGATCCTCCCACCTCAGCTT|upstream_gene_variant|MODIFIER|ERCC2|2068|Transcript|NM_000400.4|protein_coding|||||||||||1|1034|-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||AR||||||||||||||||||92.3239||0.6940||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CAGAGTAGCTGGGACCACAGGTGTACAGCTCACTGCAGCCTCCACCTCTTGGGCTCAAGCGATCCTCCCACCTCAGCTT|upstream_gene_variant|MODIFIER|ERCC2|2068|Transcript|NM_001130867.2|protein_coding|||||||||||1|1034|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||AR||||||||||||||||||92.3239||0.6940||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=45371607;PRECISE;RE=16;RNAMES=NULL;SVLEN=79;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIM:VIPC_S:VIPP_S	0/1:12:16:43:81,0,43:AD:0:U2,U2:vipc&gt&gq&vim&exit_u2,vipc&gt&gq&vim&exit_u2
+chr19	45770204	.	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	.	PASS	AC=2;AN=2;CSQ=-|3_prime_UTR_variant|MODIFIER|DMPK|1760|Transcript|NM_001081560.3|protein_coding|15/15||NM_001081560.3:c.*225_*249del||2238-2262/2784||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.010694111||||||1|AD&AR||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|3_prime_UTR_variant|MODIFIER|DMPK|1760|Transcript|NM_001081562.3|protein_coding|15/15||NM_001081562.3:c.*218_*242del||2234-2258/2780||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.010694111||||||1|AD&AR||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|3_prime_UTR_variant|MODIFIER|DMPK|1760|Transcript|NM_001081563.2|protein_coding|14/14||NM_001081563.2:c.*225_*249del||2689-2713/3243||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.013411134||||||1|AD&AR||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|3_prime_UTR_variant|MODIFIER|DMPK|1760|Transcript|NM_001288764.2|protein_coding|16/16||NM_001288764.2:c.*225_*249del||2312-2336/2858||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014489307||||||1|AD&AR||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|3_prime_UTR_variant|MODIFIER|DMPK|1760|Transcript|NM_001288765.2|protein_coding|13/13||NM_001288765.2:c.*218_*242del||1956-1980/2502||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.013513346||||||1|AD&AR||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|3_prime_UTR_variant|MODIFIER|DMPK|1760|Transcript|NM_001288766.2|protein_coding|13/13||NM_001288766.2:c.*370_*394del||2101-2125/2647||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.014857373||||||1|AD&AR||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|3_prime_UTR_variant|MODIFIER|DMPK|1760|Transcript|NM_004409.5|protein_coding|15/15||NM_004409.5:c.*225_*249del||2253-2277/2799||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.015268267||||||1|AD&AR||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|upstream_gene_variant|MODIFIER|SIX5|147912|Transcript|NM_175875.5|protein_coding|||||||||||1|987|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.3838046||||||1|AD||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|intron_variant&non_coding_transcript_variant|MODIFIER|DM1-AS|109729182|Transcript|NR_147193.1|lncRNA||1/1|NR_147193.1:n.337-1248_337-1224del||||||||1||1|||EntrezGene|||||||3|||||||||||||||||||||VUS|0.5126589|||||||||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000591473|CTCF_binding_site|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.6725896|||||||||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001221403|promoter|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.6725896|||||||||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522701496||||||||||||1||-1||||||||||||||||ENSPFM0239||N||GCM1::MAX|||||||||||VUS|0.6725896|||||||||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00207169291||||||||||||1||-1||||||||||||||||ENSPFM0473||N||RFX3&RFX2&RFX4&RFX5|||||||||||VUS|0.6725896|||||||||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521947908||||||||||||1||-1||||||||||||||||ENSPFM0506||N||TEAD4::SPIB&TEAD4::ELF1&TEAD4::ELK1|||||||||||VUS|0.6725896|||||||||||||||||||||||||90.2155||0.5550||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str;Disease=DM1;END=45770264;Gene_id=DMPK;HGNCId=2933;LOCUS=DMPK;LocusStructure=(CAG)*;NormalMax=4;PathogenicMin=50;REF=20;RU=CAG;Repeat_id=DMPK;SVTYPE=STR;VIPC_S=VUS;repeat_unit=CAG	GT:AC:ACR:AL:ALR:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:10.8/10.8:5.7-14.7/5.7-14.7:32.4/32.4:17-44/17-44:47:AR,AD:147912,1760:1:VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS:vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus
+chr19	50331528	cuteSV.INS.170	C	CCCCTCCTTCTTCCCTCTCCCCATCTCTGGTGTATTT	68.4	PASS	AC=1;AF=0.4848;AN=2;CILEN=-1,1;CIPOS=-23,23;CSQ=CCCTCCTTCTTCCCTCTCCCCATCTCTGGTGTATTT|upstream_gene_variant|MODIFIER|KCNC3|3748|Transcript|NM_001372305.1|protein_coding|||||||||||1|2457|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.62388873|||||||AD||||||||||||||||||92.6753||0.7870||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CCCTCCTTCTTCCCTCTCCCCATCTCTGGTGTATTT|upstream_gene_variant|MODIFIER|KCNC3|3748|Transcript|NM_004977.3|protein_coding|||||||||||1|2151|-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.62388873|||||||AD||||||||||||||||||92.6753||0.7870||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=50331528;PRECISE;RE=16;RNAMES=NULL;SVLEN=36;SVTYPE=INS;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	0/1:17:16:67:68,0,78:AD:3748:1:U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr20	2379958	cuteSV.INS.187	C	CCACTGGCCCAGTGAGGCTGCTGAAGGTCACACAGCCAGTTTGGCCCAGAGATAACAGAACCCAGGACTCTACTGCCAGGCTATGATGCTCACTTCTAAACTGAGTATGGGCCGGGTGCAGTGGCTCTCACTTGTAATCTCGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAA	116.2	PASS	AC=1;AF=0.6364;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=CACTGGCCCAGTGAGGCTGCTGAAGGTCACACAGCCAGTTTGGCCCAGAGATAACAGAACCCAGGACTCTACTGCCAGGCTATGATGCTCACTTCTAAACTGAGTATGGGCCGGGTGCAGTGGCTCTCACTTGTAATCTCGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAA|upstream_gene_variant|MODIFIER|TGM6|343641|Transcript|NM_001254734.2|protein_coding|||||||||||1|942|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||AD||||||||||||||||||98.8643||0.1530||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp,CACTGGCCCAGTGAGGCTGCTGAAGGTCACACAGCCAGTTTGGCCCAGAGATAACAGAACCCAGGACTCTACTGCCAGGCTATGATGCTCACTTCTAAACTGAGTATGGGCCGGGTGCAGTGGCTCTCACTTGTAATCTCGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAA|upstream_gene_variant|MODIFIER|TGM6|343641|Transcript|NM_198994.3|protein_coding|||||||||||1|942|1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||AD||||||||||||||||||98.8643||0.1530||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=2379958;PRECISE;RE=21;RNAMES=NULL;SVLEN=213;SVTYPE=INS;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	0/1:12:21:30:116,0,30:AD:343641:1:U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr20	2652733	.	GGCCTGGGCCTGGGCCTGGGCCTG	GGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGGG	.	PASS	AC=2;AN=2;CSQ=GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|intron_variant|MODIFIER|NOP56|10528|Transcript|NM_006392.4|protein_coding||1/11|NM_006392.4:c.3+89_4-87delinsCGCCTGCGCCTGCGCCTGCCCTGG||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.14782554|||||||AD||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORD57|26792|Transcript|NR_002738.1|snoRNA|||||||||||1|4184|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.39140534|||||||||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORD56|26793|Transcript|NR_002739.1|snoRNA|||||||||||1|3869|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.39140534|||||||||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORA51|677831|Transcript|NR_002981.1|snoRNA|||||||||||1|2312|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.39140534|||||||||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORD110|692213|Transcript|NR_003078.1|snoRNA|||||||||||1|1457|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.39140534|||||||||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORD86|692201|Transcript|NR_004399.1|snoRNA|||||||||||1|3342|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.39140534|||||||||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|10528|Transcript|NR_027700.3|misc_RNA||1/11|NR_027700.3:n.32+89_33-87delinsCGCCTGCGCCTGCGCCTGCCCTGG||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.52065533|||||||AD||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|MIR1292|100302138|Transcript|NR_031699.1|miRNA|||||||||||1|22|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.39140534|||||||||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|10528|Transcript|NR_145428.2|misc_RNA||1/12|NR_145428.2:n.32+89_33-87delinsCGCCTGCGCCTGCGCCTGCCCTGG||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.52065533|||||||AD||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCCTGGGCCTGGGCCTGCGCCTGCGCCTGCGCCTGCCCTGG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000133685|promoter|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.67960185|||||||||||||||||||||||||94.5481||0.6950||s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str;Disease=SCA36;END=2652757;Gene_id=NOP56;HGNCId=15911;LOCUS=NOP56;LocusStructure=(GGCCTG)*(CGCCTG)*;NormalMax=6;PathogenicMin=650;REF=4;RU=GGCCTG;Repeat_id=NOP56;SVTYPE=STR;VIPC_S=VUS;repeat_unit=GGCCTG	GT:AC:ACR:AL:ALR:ALT_MOTIF:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:7.3/7.3:4.5-8.3/4.5-8.3:43.9/43.9:27-50/27-50:GCCTGC(3):28:AR,AD:10528:1:VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS,VUS:vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus,vipc&str_pathogenic_min&str_normal_max&exit_vus
+chr20	2652757	.	CGCCTGCGCCTGCGCCTG	GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGGG	.	PASS	AC=2;AN=2;CSQ=GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|intron_variant|MODIFIER|NOP56|10528|Transcript|NM_006392.4|protein_coding||1/11|NM_006392.4:c.4-83_4-69delinsCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.14383696|||||||AD||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORD57|26792|Transcript|NR_002738.1|snoRNA|||||||||||1|4166|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.3838046|||||||||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORD56|26793|Transcript|NR_002739.1|snoRNA|||||||||||1|3851|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.3838046|||||||||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORA51|677831|Transcript|NR_002981.1|snoRNA|||||||||||1|2294|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.3838046|||||||||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORD110|692213|Transcript|NR_003078.1|snoRNA|||||||||||1|1439|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.3838046|||||||||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|SNORD86|692201|Transcript|NR_004399.1|snoRNA|||||||||||1|3324|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.3838046|||||||||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|10528|Transcript|NR_027700.3|misc_RNA||1/11|NR_027700.3:n.33-83_33-69delinsCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.5126589|||||||AD||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|upstream_gene_variant|MODIFIER|MIR1292|100302138|Transcript|NR_031699.1|miRNA|||||||||||1|4|1|||EntrezGene||||||||||||||||||||||||||||VUS|0.3838046|||||||||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|intron_variant&non_coding_transcript_variant|MODIFIER|NOP56|10528|Transcript|NR_145428.2|misc_RNA||1/12|NR_145428.2:n.33-83_33-69delinsCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG||||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.5126589|||||||AD||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000133685|promoter|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.6725896|||||||||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus,GCCTGGGCCTGGGCCTGGGCCTGCGCCTGCGCCTGCCCTGG|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00190349373||||||||||||1||1||||||||||||||||ENSPFM0427|2|N||NRF1|||||||||||VUS|0.6725896|||||||||||||||||||||||||96.1792||0.7910||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_vus;Disease=SCA36;END=2652775;Gene_id=NOP56;HGNCId=15911;LOCUS=NOP56;LocusStructure=(GGCCTG)*(CGCCTG)*;NormalMax=6;PathogenicMin=650;REF=3;RU=CGCCTG;Repeat_id=NOP56;SVTYPE=STR;VIPC_S=U1,U2;repeat_unit=GGCCTG	GT:AC:ACR:AL:ALR:ALT_MOTIF:DP:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:7.0/7.0:6.8-7.7/6.8-7.7:42.1/42.1:41-46/41-46:GCCTGG(10):27:AR,AD:10528:1:U1,U2,U2,U2,U2,U2,U1,U2,U1,U2,U2:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2,vipc&gt&gq&vim&vid&exit_u2
+chr20	63919923	cuteSV.INS.200	G	GTGTGGACATGTGCCCAGGGCCCGGGAGAAGCGCCCACGGAAGAGGACGCACCCGGCTGTGTGGACATGTGCCCAGCCCGGGGAGGCGCCACGGAAAGGGGCGCACCGGGC	62.8	PASS	AC=1;AF=0.5417;AN=2;CILEN=-1,1;CIPOS=-58,58;CSQ=TGTGGACATGTGCCCAGGGCCCGGGAGAAGCGCCCACGGAAGAGGACGCACCCGGCTGTGTGGACATGTGCCCAGCCCGGGGAGGCGCCACGGAAAGGGGCGCACCGGGC|non_coding_transcript_exon_variant|MODIFIER|MIR941-5|103504732|Transcript|NR_128719.1|miRNA|1/1||NR_128719.1:n.60_61insGACATGTGCCCAGGGCCCGGGAGAAGCGCCCACGGAAGAGGACGCACCCGGCTGTGTGGACATGTGCCCAGCCCGGGGAGGCGCCACGGAAAGGGGCGCACCGGGCTGTG||60-61/72||||||1||1|||EntrezGene|||||||4|||||||||||||||||||||VUS|0.7862487|||||||||||||||||||||||||90.5559||0.5300||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=63919923;PRECISE;RE=13;RNAMES=NULL;SVLEN=110;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:11:13:43:63,0,44:AD:U2:vipc&gt&gq&vim&exit_u2
+chr22	20225233	cuteSV.INS.201	C	CACACATGCACACATGGGCAGCAAACACACATGCACACATGGACAGCACGCTCACACGTGTACACATGGGCAGCACGCT	267.2	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=-5,5;CSQ=ACACATGCACACATGGGCAGCAAACACACATGCACACATGGACAGCACGCTCACACGTGTACACATGGGCAGCACGCT|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||92.0489||0.4600||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=20225233;PRECISE;RE=28;RNAMES=NULL;SVLEN=78;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:28:71:267,71,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr22	38189211	cuteSV.INS.204	A	AGGGATGGAGAGGGATGGAGAGGGATGGTGGGGGATGGAGAGGGATGGTGGAGGGATGGTGAGGGATGGTGGGGGTGAGTGGGGGATGGAGAGGGATGGAGAGGGATGAGAGAGGGATGGTGAGGGATGGTGGGGGATGGAGAGAGGGATGGAGAGGGGTGGGTGGGGAGGGATGGTGGGTGGTGGGGGGTGGTGGGGATGGAGAGGGATGGAGAGGGATGGTGG	229	PASS	AC=2;AF=0.8158;AN=2;CILEN=-52,52;CIPOS=-20,20;CSQ=GGGATGGAGAGGGATGGAGAGGGATGGTGGGGGATGGAGAGGGATGGTGGAGGGATGGTGAGGGATGGTGGGGGTGAGTGGGGGATGGAGAGGGATGGAGAGGGATGAGAGAGGGATGGTGAGGGATGGTGGGGGATGGAGAGAGGGATGGAGAGGGGTGGGTGGGGAGGGATGGTGGGTGGTGGGGGGTGGTGGGGATGGAGAGGGATGGAGAGGGATGGTGG|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||88.539||0.4460||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=38189211;PRECISE;RE=31;RNAMES=NULL;SVLEN=224;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:7:31:30:229,30,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr22	50638349	cuteSV.INS.208	T	TTAGAGTCCGGACTGACTGTGACACCTGTAC	105	PASS	AC=2;AF=1;AN=2;CILEN=-1,1;CIPOS=-28,28;CSQ=TAGAGTCCGGACTGACTGTGACACCTGTAC|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||0.0410||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=50638349;PRECISE;RE=11;RNAMES=NULL;SVLEN=30;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:11:28:105,28,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chrX	18418765	cuteSV.DEL.250	TGTGTACACATATATATGTGTGTATACACATATATA	T	42.5	PASS	AC=1;AF=0.5294;AN=2;CILEN=-1,1;CIPOS=-11,11;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||88.7248||0.1900||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=18418800;PRECISE;RE=9;RNAMES=NULL;STRAND=+-;SVLEN=-35;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:8:9:32:42,0,33:XLD:U2:vipc&gt&gq&vim&exit_u2
+chrX	140514521	cuteSV.INS.317	T	TTTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA	152.7	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=TTATTGAAGGTCTACTATAGGCCAGATATTCTTCAAGAACTTGGGGGTACA|intergenic_variant|MODIFIER||||||||||||||||1||||1||||||||||||||||||||||||||||||||||||||||0|0.703188|0|0|0|AC0|G|||||NA||||86.8339||0.4840||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=140514521;PRECISE;RE=16;RNAMES=NULL;SVLEN=51;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:16:40:153,41,0:XLD,XLR:U2:vipc&gt&gq&vim&exit_u2
+chrX	147912050	.	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	.	PASS	AC=2;AN=2;CSQ=GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|5_prime_UTR_variant|MODIFIER|FMR1|2332|Transcript|NM_001185075.2|protein_coding|1/16||NM_001185075.2:c.-130_-129insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA||132/4170||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.82719904|0|0|0||||XL||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|5_prime_UTR_variant|MODIFIER|FMR1|2332|Transcript|NM_001185076.2|protein_coding|1/16||NM_001185076.2:c.-130_-129insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA||132/4378||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.58610916|0|0|0||||XL||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|5_prime_UTR_variant|MODIFIER|FMR1|2332|Transcript|NM_001185081.2|protein_coding|1/15||NM_001185081.2:c.-130_-129insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA||132/4107||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.7863057|0|0|0||||XL||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|5_prime_UTR_variant|MODIFIER|FMR1|2332|Transcript|NM_001185082.2|protein_coding|1/16||NM_001185082.2:c.-130_-129insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA||132/4303||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.6410485|0|0|0||||XL||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|5_prime_UTR_variant|MODIFIER|FMR1|2332|Transcript|NM_002024.6|protein_coding|1/17||NM_002024.6:c.-130_-129insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA||132/4441||||||1||1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.6000885|0|0|0||||XL||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|upstream_gene_variant|MODIFIER|FMR1-AS1|100126270|Transcript|NR_024499.3|lncRNA|||||||||||1|233|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.514725|||||||||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|upstream_gene_variant|MODIFIER|FMR1-AS1|100126270|Transcript|NR_024501.3|lncRNA|||||||||||1|233|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.514725|||||||||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|upstream_gene_variant|MODIFIER|FMR1-AS1|100126270|Transcript|NR_024502.3|lncRNA|||||||||||1|233|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.514725|||||||||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|upstream_gene_variant|MODIFIER|FMR1-AS1|100126270|Transcript|NR_024503.3|lncRNA|||||||||||1|233|-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.514725|||||||||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|non_coding_transcript_exon_variant|MODIFIER|FMR1|2332|Transcript|NR_033699.2|misc_RNA|1/16||NR_033699.2:n.132_133insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA||132/4245||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.8282152|||||||XL||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|non_coding_transcript_exon_variant|MODIFIER|FMR1|2332|Transcript|NR_033700.2|misc_RNA|1/15||NR_033700.2:n.132_133insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA||132/4182||||||1||1|||EntrezGene||||||||||||||||||||||||||||VUS|0.848134|||||||XL||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str,GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249258|promoter|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.514725|||||||||||||||||||||||||99.6972||0.9810|0.617999970912933|s|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&str_sequence&exit_str;Disease=FX;END=147912110;Gene_id=FMR1;HGNCId=3775;LOCUS=FMR1;LocusStructure=(CGG)*;NormalMax=50;PathogenicMin=200;REF=20;RU=CGG;Repeat_id=FMR1;SVTYPE=STR;VIPC_S=LB;repeat_unit=CGG	GT:AC:ACR:AL:ALR:DP:VI:VIPC_S:VIPP_S	1/1:30.4/30.4:27.0-33.3/27.0-33.3:91.1/91.1:81-100/81-100:43:XLD,XLR:LB,LB,LB,LB,LB,LB,LB,LB,LB,LB,LB,LB:vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb,vipc&str_pathogenic_min&str_normal_max&exit_lb
+chr4	6309425	cuteSV.INS.225	G	GCCGAGGGATCCGGCTCCGGCCTCGGCCAGC	305.4	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=-8,8;CSQ=CCGAGGGATCCGGCTCCGGCCTCGGCCAGC|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||93.5727||0.3500||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=6309425;PRECISE;RE=32;RNAMES=NULL;SVLEN=30;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:32:81:305,82,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr4	17459278	cuteSV.DEL.176	GTATTCTATACGCACAGCTTATGTATACATATGTATTATATACGCACAGCTTATGTATACATATGTATTATATACGCACAGCTTATGTATACATATGTATTATATACGCACAGC	G	314.9	PASS	AC=2;AF=0.9714;AN=2;CILEN=-8,8;CIPOS=-40,40;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||89.4758||0.0000||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=17459391;PRECISE;RE=34;RNAMES=NULL;STRAND=+-;SVLEN=-113;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:1:34:79:315,80,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr4	92384547	cuteSV.DEL.177	AATATATATTATATATAATATAATATATAAAATATATTATATTATATATAACATAATATATAATATATGTTAT	A	78	PASS	AC=1;AF=0.5152;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|GRID2|2895|Transcript|NM_001286838.1|protein_coding||1/14|NM_001286838.1:c.88+79808_88+79879del||||||||1||1|||EntrezGene|||||||4|||||||||||||||||||||VUS|0.014944052|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||76.3561||0.0730||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|GRID2|2895|Transcript|NM_001510.4|protein_coding||1/15|NM_001510.4:c.88+79808_88+79879del||||||||1||1||1|EntrezGene|||||||4|||||||||||||||||||||VUS|0.014944052|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||76.3561||0.0730||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=92384619;PRECISE;RE=17;RNAMES=NULL;STRAND=+-;SVLEN=-72;SVTYPE=DEL;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIC:VIG:VIM:VIPC_S:VIPP_S	0/1:16:17:67:78,0,68:AD,AR_C:chr4_93517927_ATATATGTATGTATATACATACATGTATATGTATGTATATACATACATGTACATGTATGTATATACATACATGTATATGTATGTATATACATACATG_A:2895:1:U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr4	93517927	cuteSV.DEL.183	ATATATGTATGTATATACATACATGTATATGTATGTATATACATACATGTACATGTATGTATATACATACATGTATATGTATGTATATACATACATG	A	143.4	PASS	AC=1;AF=0.6341;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|GRID2|2895|Transcript|NM_001286838.1|protein_coding||12/14|NM_001286838.1:c.1908+2519_1908+2614del||||||||1||1|||EntrezGene|||||||2|||||||||||||||||||||VUS|0.014944052|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.2072||0.1550||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|GRID2|2895|Transcript|NM_001510.4|protein_coding||13/15|NM_001510.4:c.2193+2519_2193+2614del||||||||1||1||1|EntrezGene|||||||2|||||||||||||||||||||VUS|0.014944052|||||||AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.2072||0.1550||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000730355|open_chromatin_region|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.2294395|||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||86.2072||0.1550||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=93518023;PRECISE;RE=26;RNAMES=NULL;STRAND=+-;SVLEN=-96;SVTYPE=DEL;VIPC_S=U1,U2	GT:DR:DV:GQ:PL:VI:VIC:VIG:VIM:VIPC_S:VIPP_S	0/1:15:26:38:143,0,38:AD,AR_C:chr4_92384547_AATATATATTATATATAATATAATATATAAAATATATTATATTATATATAACATAATATATAATATATGTTAT_A:2895:1:U1,U1,U2:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2
+chr4	159094741	cuteSV.DEL.185	TTACAGGCGTGAGCCACCGCGCCCGGCCTGCATTTTTTTTTCTAGAGACGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACCCTTGAGTTCAAGTGATCTGGCTGCCTTGGCCTCCCAAAGTGCTGGGA	T	38.6	PASS	AC=1;AF=0.4231;AN=2;CILEN=-1,1;CIPOS=-17,17;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||48.628||0.0240||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=159094872;PRECISE;RE=11;RNAMES=NULL;STRAND=+-;SVLEN=-131;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:15:11:38:39,0,77:AD:U2:vipc&gt&gq&vim&exit_u2
+chr7	5791814	cuteSV.INS.274	G	GGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGTGGAGGTTCCAGTGAGCCAAGATTGTGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGGTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACTGGCACCCGCCACCACGCCCGGCTAATTTTTTGCATTTTTAGTAGAGATGAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACATCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACCGCGCCCGGCCGAGACTCCATATTAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGATGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCATGGTGGTGGGCACCTGTAGTCCGAGGTACT	143.1	PASS	AC=2;AF=1;AN=2;CILEN=-2,2;CIPOS=-1,1;CSQ=GGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGTGGAGGTTCCAGTGAGCCAAGATTGTGCCATTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGGTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACTGGCACCCGCCACCACGCCCGGCTAATTTTTTGCATTTTTAGTAGAGATGAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACATCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACCGCGCCCGGCCGAGACTCCATATTAAAAAAAAAAAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGATGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGTGGGCATGGTGGTGGGCACCTGTAGTCCGAGGTACT|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||77.8612||0.3900||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=5791814;PRECISE;RE=15;RNAMES=NULL;SVLEN=618;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:15:38:143,38,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr7	50570862	cuteSV.DEL.221	TTTAGGGTACCCATGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCATGTTGGTTTGCTGCACCCAGTAACTCGTCATTTAACA	T	99.6	PASS	AC=1;AF=0.5938;AN=2;CILEN=-1,1;CIPOS=0,0;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||87.4382||0.0290||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=50570952;PRECISE;RE=19;RNAMES=NULL;STRAND=+-;SVLEN=-90;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:13:19:42:100,0,42:AD:U2:vipc&gt&gq&vim&exit_u2
+chr7	103822619	cuteSV.DEL.224	TAAAGAATTACTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	T	515.3	PASS	AC=2;AF=1;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|RELN|5649|Transcript|NM_005045.4|protein_coding||3/64|NM_005045.4:c.473+10596_473+10917del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||90.0598||0.5970||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|RELN|5649|Transcript|NM_173054.3|protein_coding||3/63|NM_173054.3:c.473+10596_473+10917del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.01628587|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||90.0598||0.5970||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=103822941;PRECISE;RE=54;RNAMES=NULL;STRAND=+-;SVLEN=-322;SVTYPE=DEL;VIPC_S=U1	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	1/1:0:54:99:515,138,0:AR,AD:5649:1:U1,U1:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1
+chr7	107883806	cuteSV.DEL.227	AAAAAAAAAAAAAGGAGTGAGGGCATGGAAAACATACAGCACACCAATAAAACAAAATATCAAAAACACAAAAAAAC	A	93.8	PASS	AC=1;AF=0.5263;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6||89.7406||0.0010||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=107883882;PRECISE;RE=20;RNAMES=NULL;STRAND=+-;SVLEN=-76;SVTYPE=DEL;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:18:20:74:94,0,75:AD:U2:vipc&gt&gq&vim&exit_u2
+chr8	1799367	cuteSV.INS.282	C	CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT	72.3	PASS	AC=1;AF=0.5833;AN=2;CILEN=-3,3;CIPOS=-21,21;CSQ=TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT|upstream_gene_variant|MODIFIER|MIR3674|100500912|Transcript|NR_037445.1|miRNA|||||||||||1|1757|1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.6274674|||||||||||||||||||||||||93.4734||0.4540||LP|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_lp;END=1799367;PRECISE;RE=14;RNAMES=NULL;SVLEN=40;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:10:14:34:72,0,34:AD:U2:vipc&gt&gq&vim&exit_u2
+chr8	60286714	cuteSV.INS.285	C	CCCTTGTTGACTTTAAGAGAAATGTATTGGA	106.6	PASS	AC=1;AF=0.6061;AN=2;CILEN=0,0;CIPOS=-8,8;CSQ=CCTTGTTGACTTTAAGAGAAATGTATTGGA|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||90.0331||0.5820||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=60286714;PRECISE;RE=20;RNAMES=NULL;SVLEN=30;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:13:20:39:107,0,40:AD:U2:vipc&gt&gq&vim&exit_u2
+chr8	63092055	cuteSV.INS.286	C	CATCAATGATAGACTGGATAAAGAAATGTGATATATATGTATATACACACATATACACACCATGGAATACTATGCAGCCATAAAAAAGAATGAGATCCTGTCCTTTGCAGGGACATGGATGAATCTGGAAGCCATCATCCTCAGCAAACTAACACAGAAACAGAAAACTGAACACTGCATGTTCTCACTTATAAGTGGGAGTTGAACAATGAGAACACATAGACATGGGGAGGGGAACAACACACACTGGGGCCTTTTGGGGGTTGGGGGGCAAGGGGAAGGAGAGCATTAGGACAAATACCTAATGCATGCAGGGCTTAAAACCTAGATGACGGGTTGATAGGTACAGCAAACCACCATGGCACATGTATACCTAGGTAGCAAACCAAACCTGCACAATCCCATGTATGTATCCCAGAACTTAAAGTAAAATAAGAAAGGAAAGGAAAAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGGAAGGAGGAAAGGAAGGAAGGGAGAGGGAGGGAGGGAAACGGGAAGGAGGGAAAAGGAAAGGAAAGGAAGAAAGAAAGATCATGGACTCAATGCAAAAGAAAGCAGAGCTTTAGACCTGAGAAAAACCTGTCCATAACTCTTGCGATCCACCAAGAAGACAAAAGACCTTA	133.6	PASS	AC=2;AF=1;AN=2;CILEN=-16,16;CIPOS=0,0;CSQ=ATCAATGATAGACTGGATAAAGAAATGTGATATATATGTATATACACACATATACACACCATGGAATACTATGCAGCCATAAAAAAGAATGAGATCCTGTCCTTTGCAGGGACATGGATGAATCTGGAAGCCATCATCCTCAGCAAACTAACACAGAAACAGAAAACTGAACACTGCATGTTCTCACTTATAAGTGGGAGTTGAACAATGAGAACACATAGACATGGGGAGGGGAACAACACACACTGGGGCCTTTTGGGGGTTGGGGGGCAAGGGGAAGGAGAGCATTAGGACAAATACCTAATGCATGCAGGGCTTAAAACCTAGATGACGGGTTGATAGGTACAGCAAACCACCATGGCACATGTATACCTAGGTAGCAAACCAAACCTGCACAATCCCATGTATGTATCCCAGAACTTAAAGTAAAATAAGAAAGGAAAGGAAAAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGGAAGGAGGAAAGGAAGGAAGGGAGAGGGAGGGAGGGAAACGGGAAGGAGGGAAAAGGAAAGGAAAGGAAGAAAGAAAGATCATGGACTCAATGCAAAAGAAAGCAGAGCTTTAGACCTGAGAAAAACCTGTCCATAACTCTTGCGATCCACCAAGAAGACAAAAGACCTTA|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||NA||||88.0662||0.0170||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=63092055;PRECISE;RE=14;RNAMES=NULL;SVLEN=694;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:14:35:134,36,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr8	144347173	cuteSV.INS.295	T	TAAGACACCAACATTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	93.8	PASS	AC=1;AF=0.5263;AN=2;CILEN=-1,1;CIPOS=-2,2;CSQ=AAGACACCAACATTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||78.6619||0.2530||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=144347173;PRECISE;RE=20;RNAMES=NULL;SVLEN=293;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:18:20:74:94,0,75:AD:U2:vipc&gt&gq&vim&exit_u2
+chr10	77041144	cuteSV.DEL.32	GCTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	G	48.1	PASS	AC=1;AF=0.4615;AN=2;CILEN=0,0;CIPOS=0,0;CSQ=-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001014797.3|protein_coding||14/28|NM_001014797.3:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001161352.2|protein_coding||14/27|NM_001161352.2:c.1750-1826_1750-1508del||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001161353.2|protein_coding||14/27|NM_001161353.2:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001271518.2|protein_coding||13/27|NM_001271518.2:c.1588-1826_1588-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001271519.2|protein_coding||14/28|NM_001271519.2:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001322829.2|protein_coding||14/28|NM_001322829.2:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001322830.2|protein_coding||14/30|NM_001322830.2:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001322832.2|protein_coding||14/27|NM_001322832.2:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001322835.2|protein_coding||14/29|NM_001322835.2:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001322836.2|protein_coding||14/27|NM_001322836.2:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001322837.2|protein_coding||14/28|NM_001322837.2:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001322838.2|protein_coding||15/29|NM_001322838.2:c.1210-1826_1210-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_001410940.1|protein_coding||14/27|NM_001410940.1:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|intron_variant|MODIFIER|KCNMA1|3778|Transcript|NM_002247.4|protein_coding||14/26|NM_002247.4:c.1750-1826_1750-1508del||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||VUS|0.017421985|||||||AD&AR||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000946792|enhancer|||||||||||1|||||||||||||||||||||||||||||||||VUS|0.3095948|||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B2G_(cf_po_B_loss_someG_source%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0||80.1533||0.1590||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&exit_vus;END=77041463;PRECISE;RE=12;RNAMES=NULL;STRAND=+-;SVLEN=-319;SVTYPE=DEL;VIPC_S=U1,U2	GT:DR:DV:GQ:PL:VI:VIG:VIM:VIPC_S:VIPP_S	0/1:14:12:48:48,0,67:AD:3778:1:U1,U1,U1,U1,U1,U1,U1,U1,U1,U1,U1,U1,U1,U1,U2:vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&exit_u1,vipc&gt&gq&vim&vid&exit_u2
+chr10	103220402	cuteSV.INS.60	A	ATTCTATATATATAGAATATATATATTCTAGAT	130.1	PASS	AC=1;AF=0.6571;AN=2;CILEN=-4,4;CIPOS=-7,7;CSQ=TTCTATATATATAGAATATATATATTCTAGAT|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||42.9655||0.0010||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=103220402;PRECISE;RE=23;RNAMES=NULL;SVLEN=32;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:12:23:25:130,0,25:AD:U2:vipc&gt&gq&vim&exit_u2
+chr11	65516265	cuteSV.INS.67	A	AGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGACGGGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGAAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGAGGGGGAGGTAGGGAGGGGAGAGGAGGGGGAGGGGAGAGGAGGGAGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGAGGAGGGGGGAGGAGGGGAGGGGAGAGGAGGGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAGGGGGAGGGGAGGAGGGGAGGGGGAGGGGAGGAGGGGAGGGGGAGGGGAGGGGAGGAGGGGGAGGAGGGGGGAGGGGAAGGGGGAGGACGGGGAGGAGGGGGGAGGGAGGGGGAGGAGGGGGAGGAGGGAGGGAGGGGAGGAGGGGAGGAGGGAGGGGAGGAGGGGGAGGAGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGAGGAGGGGGAGGAGGGGAGGGAGGAGGGGGGAGGAGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGGTAGGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGAGAGGAGGGGAGGGAGGAGGGAGGAGGGGAGG	238.6	PASS	AC=2;AF=1;AN=2;CILEN=-13,13;CIPOS=-5,5;CSQ=GAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGACGGGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGAAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGAGGGGGAGGTAGGGAGGGGAGAGGAGGGGGAGGGGAGAGGAGGGAGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGAGGAGGGGGGAGGAGGGGAGGGGAGAGGAGGGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAGGGGGAGGGGAGGAGGGGAGGGGGAGGGGAGGAGGGGAGGGGGAGGGGAGGGGAGGAGGGGGAGGAGGGGGGAGGGGAAGGGGGAGGACGGGGAGGAGGGGGGAGGGAGGGGGAGGAGGGGGAGGAGGGAGGGAGGGGAGGAGGGGAGGAGGGAGGGGAGGAGGGGGAGGAGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGAGGAGGGGGAGGAGGGGAGGGAGGAGGGGGGAGGAGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGGTAGGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGAGAGGAGGGGAGGGAGGAGGGAGGAGGGGAGG|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||21.2325||0.1390||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=65516265;PRECISE;RE=25;RNAMES=NULL;SVLEN=771;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:25:63:239,64,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2
+chr11	72201614	cuteSV.INS.68	G	GCAGAGCATGCAGAACGGCACGTACACGGTACGGCAGACCAGTACATGCAGAGCACGGCATACAGTATAGTACGGTACATGTACACCTATACATGTACATACACGGATACACCGTACATGCATGTAGCACGCGTACACCAGCACCGGAGCACCGTACATGCACTATACATGTAAGTACATGCAGCACACCATACATGTATATGCACGTACACGGTGTACACCGTACATGCAGTACACGGTATATGCATGTACACGGTACATGTATACACCGTACATGCAGTACGGCATGTACACCGGTACACCAGCACGGATACACCAGACCGGATGTACACGGTGTACACCAGCACGGTATACACTGTATAATGCATGTACACCGTGTACATGCAGCACCAGTACATGTATACTATAAAATATGCAGAATATGTATATGTATAGTATACGGTATATGCACGTACACTGTACATGATACACGGTACATACACTGTATATGCAGTATAATGAAATATGTGTACATGCATAATGCATACACGCAGACCACGTACACGTGTACATGCAGTACACGGATACACGGTACAACGGCACGTACCGCGTATGTATAGTA	51.4	PASS	AC=1;AF=0.5238;AN=2;CILEN=-9,9;CIPOS=-44,44;CSQ=CAGAGCATGCAGAACGGCACGTACACGGTACGGCAGACCAGTACATGCAGAGCACGGCATACAGTATAGTACGGTACATGTACACCTATACATGTACATACACGGATACACCGTACATGCATGTAGCACGCGTACACCAGCACCGGAGCACCGTACATGCACTATACATGTAAGTACATGCAGCACACCATACATGTATATGCACGTACACGGTGTACACCGTACATGCAGTACACGGTATATGCATGTACACGGTACATGTATACACCGTACATGCAGTACGGCATGTACACCGGTACACCAGCACGGATACACCAGACCGGATGTACACGGTGTACACCAGCACGGTATACACTGTATAATGCATGTACACCGTGTACATGCAGCACCAGTACATGTATACTATAAAATATGCAGAATATGTATATGTATAGTATACGGTATATGCACGTACACTGTACATGATACACGGTACATACACTGTATATGCAGTATAATGAAATATGTGTACATGCATAATGCATACACGCAGACCACGTACACGTGTACATGCAGTACACGGATACACGGTACAACGGCACGTACCGCGTATGTATAGTA|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||42.0376||0.0940||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=72201614;PRECISE;RE=11;RNAMES=NULL;SVLEN=600;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	0/1:10:11:41:51,0,42:AD:U2:vipc&gt&gq&vim&exit_u2
+chr17	14491305	cuteSV.INS.134	T	TTTTGATGGGGTTGTTTGTTTTTTCTTGTAAATGTGTTTAAGTTCCTTGTAGGTTCTGGATATTAGACCTTTGTCAGATGGATAGATTGCAAAAATTTTCTCCCATTGTTTAGGTTAAAGCATACATATCTTATCCATTAATTTAGGTGTTTTATGTTTCCTGGTAGTTATTGTTATTGGAATGTTTTTTCTTAAACATTTTCTGAAAAGTTAATGATGCATAGAAAAATTTTTGCTTGTTGATATATCAATCTACTTTACTGAACCCTTATACTGGTCTAATAGTTTTTGGCTGAATCTCTTAAATGTGCTAGATAGATAATATTACCATTTGAAAATATTGTGAGTGTTTTCTCCTTTTTTTCTTCAATATTTTAGATCTCTGTTTTTCTTCAGCCATTGAC	257.6	PASS	AC=2;AF=1;AN=2;CILEN=-1,1;CIPOS=0,0;CSQ=TTTGATGGGGTTGTTTGTTTTTTCTTGTAAATGTGTTTAAGTTCCTTGTAGGTTCTGGATATTAGACCTTTGTCAGATGGATAGATTGCAAAAATTTTCTCCCATTGTTTAGGTTAAAGCATACATATCTTATCCATTAATTTAGGTGTTTTATGTTTCCTGGTAGTTATTGTTATTGGAATGTTTTTTCTTAAACATTTTCTGAAAAGTTAATGATGCATAGAAAAATTTTTGCTTGTTGATATATCAATCTACTTTACTGAACCCTTATACTGGTCTAATAGTTTTTGGCTGAATCTCTTAAATGTGCTAGATAGATAATATTACCATTTGAAAATATTGTGAGTGTTTTCTCCTTTTTTTCTTCAATATTTTAGATCTCTGTTTTTCTTCAGCCATTGAC|intergenic_variant|MODIFIER||||||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||||||||||NA||||58.7226||0.1700||VUS|filter&vkgl&clinVar&chrom&gene&gnomAD&gnomAD_AF&sv&str&annotSV&spliceAI&utr5&capice&exit_vus;END=14491305;PRECISE;RE=27;RNAMES=NULL;SVLEN=403;SVTYPE=INS;VIPC_S=U2	GT:DR:DV:GQ:PL:VI:VIPC_S:VIPP_S	1/1:0:27:68:258,69,0:AR,AD:U2:vipc&gt&gq&vim&exit_u2