view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC1_chr12_986223_1500931 | 1196838 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0130 | 1 | 113 | 0.0088 | 34 | c.235 others(53): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1463697 | C | CTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0115 | 1 | 63 | 0.0159 | 34 | c.321 others(55): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45403321 | G | GGCCCTTT others(27): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0157 | 1 | 418 | 0.0024 | 34 | c.*63 others(45): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 4012 | chr19 | TogoVar | |||||||
ERCC6L2_chr9_95870691_96023447 | 95907830 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0004 | a0004c0004t0038 | a0004c0004t0038g0258 | 1 | 390 | 0.0026 | 34 | c.788 others(49): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95907832 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0017 | a0017c0024 | a0017c0024t0074 | a0017c0024t0074g0256 | 1 | 380 | 0.0026 | 34 | c.788 others(49): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95907834 | C | CACACACA others(27): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02056.hp2 NA18747.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0024a0001c0001t0068a0002c0002t0003others(8): Show | a0001c0001t0024g0213 a0001c0001t0024g0219 a0001c0001t0068g0218 others(20): Show |
23 | 305 | 0.0754 | 34 | c.788 others(49): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893900 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0004g0326 |
3 | 329 | 0.0091 | 34 | c.83- others(49): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 130 | 0.0077 | 34 | c.83- others(49): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 130 | 0.0077 | 34 | c.83- others(49): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATGT others(27): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 130 | 0.0077 | 34 | c.83- others(49): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893939 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 279 | 0.0036 | 34 | c.83- others(49): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172908304 | G | GGGCAGGT others(27): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0088 | 1 | 295 | 0.0034 | 34 | c.156 others(51): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTG others(27): Show |
intron_variant | MODIFIER | HG01516.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 a0001c0001t0002g0284 |
2 | 133 | 0.0150 | 34 | c.169 others(51): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150672264 | C | CATAATAT others(27): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0263 | 1 | 171 | 0.0058 | 34 | c.134 others(53): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150672264 | C | CATACATA others(27): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01081.hp1 others(6): Show |
a0002a0003a0005 | a0002c0002a0003c0004a0005c0008 | a0002c0002t0001a0003c0004t0001a0005c0008t0001 | a0002c0002t0001g0204 a0002c0002t0001g0208 a0002c0002t0001g0214 others(6): Show |
9 | 179 | 0.0503 | 34 | c.134 others(53): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150672264 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01934.hp2 others(25): Show |
a0001a0002a0018 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0048 others(25): Show |
28 | 198 | 0.1414 | 34 | c.134 others(53): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
ERO1A_chr14_52634915_52700558 | 52651461 | T | TGTGAAAG others(27): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019a0001c0001t0020others(3): Show | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0030 others(34): Show |
39 | 396 | 0.0985 | 34 | c.112 others(51): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 13/15 | chr14 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0117 | 1 | 67 | 0.0149 | 34 | c.58- others(49): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(27): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0324 a0001c0003t0001g0326 a0001c0003t0001g0328 others(2): Show |
5 | 247 | 0.0202 | 34 | c.-47 others(45): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94668789 | A | ATGTGTGT others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01361.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(24): Show |
27 | 152 | 0.1776 | 34 | c.123 others(51): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158795779 | A | AGGCGTCC others(27): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00735.hp1 others(53): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0006a0003c0003others(5): Show | a0001c0001t0014a0001c0001t0017a0001c0006t0009others(12): Show | a0001c0001t0014g0220 a0001c0001t0014g0221 a0001c0001t0017g0231 others(53): Show |
56 | 368 | 0.1522 | 34 | c.508 others(51): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 3/22 | chr7 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAATA others(27): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 226 | 0.0044 | 34 | c.732 others(49): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76311932 | C | CTTTTTTT others(27): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02040.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0141 others(14): Show |
17 | 27 | 0.6296 | 34 | c.-54 others(43): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 464 | chr15 | TogoVar | |||||||
ETV2_chr19_35636745_35649871 | 35638908 | C | CAAAAAAA others(27): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 4 | 0.2500 | 34 | c.-32 others(45): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2836 | chr19 | TogoVar | |||||||
ETV2_chr19_35636745_35649871 | 35639701 | G | GAGACACA others(27): Show |
upstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 436 | 0.0023 | 34 | c.-24 others(45): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2043 | chr19 | TogoVar | |||||||
EVA1A_chr2_75487318_75565939 | 75555336 | T | TCTCTCTC others(27): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02486.hp1 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0275 a0001c0001t0002g0303 a0001c0001t0002g0304 others(4): Show |
7 | 293 | 0.0239 | 34 | c.-19 others(53): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5748793 | C | CGTCTATC others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0002a0004others(9): Show | a0001c0008a0001c0017a0002c0003others(13): Show | a0001c0008t0001a0001c0008t0002a0001c0008t0004others(25): Show | a0001c0008t0001g0046 a0001c0008t0001g0115 a0001c0008t0002g0127 others(57): Show |
60 | 368 | 0.1630 | 34 | c.109 others(51): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
EVX2_chr2_176072472_176088962 | 176084420 | G | GTTTTTTT others(27): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 413 | 0.0024 | 34 | c.-64 others(43): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 459 | chr2 | TogoVar | |||||||
EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTGTT others(27): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 106 | 0.0094 | 34 | c.-64 others(43): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | |||||||
EVX2_chr2_176072472_176088962 | 176084733 | A | AAGAGAGA others(27): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0012 | 1 | 208 | 0.0048 | 34 | c.-95 others(43): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 772 | chr2 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137350578 | C | CTAGATAG others(27): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(15): Show |
a0003a0005a0006others(10): Show | a0003c0003a0005c0021a0006c0018others(11): Show | a0003c0003t0001a0005c0021t0001a0006c0018t0001others(11): Show | a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0068 others(15): Show |
18 | 20 | 0.9000 | 34 | c.149 others(51): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 14/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355621 | G | GGAGGAAG others(27): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0076 | 1 | 50 | 0.0200 | 34 | c.757 others(49): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501225 | A | ATATATTA others(27): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG00738.hp1 others(25): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0078 a0001c0001t0001g0096 others(25): Show |
28 | 228 | 0.1228 | 34 | c.238 others(53): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501244 | A | ATATATTA others(27): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 266 | 0.0038 | 34 | c.238 others(53): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501325 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 266 | 0.0038 | 34 | c.238 others(53): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501335 | A | ATATATTA others(27): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0003 | 1 | 262 | 0.0038 | 34 | c.238 others(53): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133604706 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 76 | 0.0132 | 34 | c.141 others(55): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133855094 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA19010.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0068 |
2 | 52 | 0.0385 | 34 | c.173 others(55): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133857325 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01943.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 a0001c0002t0001g0098 |
2 | 59 | 0.0339 | 34 | c.173 others(55): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72224994 | G | GTGTATAT others(27): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0014 | a0001c0002t0004g0022 a0001c0002t0014g0023 a0001c0002t0014g0024 |
3 | 88 | 0.0341 | 34 | c.219 others(55): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72397625 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0031 a0001c0001t0007g0046 |
2 | 70 | 0.0286 | 34 | c.198 others(55): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
EXOC6_chr10_92843520_93064490 | 92896123 | G | GTGTGTAT others(27): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 49 | 0.0204 | 34 | c.412 others(51): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(27): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 141 | 0.0071 | 34 | c.248 others(51): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(27): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 141 | 0.0071 | 34 | c.248 others(51): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG01952.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 142 | 0.0141 | 34 | c.248 others(51): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01074.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0002c0013others(3): Show | a0001c0001t0001a0002c0004t0001a0002c0013t0001others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0054 a0001c0001t0001g0059 others(15): Show |
18 | 158 | 0.1139 | 34 | c.248 others(51): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 142 | 0.0141 | 34 | c.248 others(51): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0205 | 1 | 141 | 0.0071 | 34 | c.248 others(51): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0099 | 1 | 69 | 0.0145 | 34 | c.963 others(53): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACACTCT others(27): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0133 a0001c0001t0003g0059 |
2 | 143 | 0.0140 | 34 | c.-10 others(51): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar |