regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH12_chr3_57288700_57549344 | 57462241 | GTGTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(166): Show |
a0001a0004a0005others(51): Show | a0001c0001a0001c0026a0001c0027others(67): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(69): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(166): Show | 169 | 266 | 0.6353 | -5 | c.253 others(22): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 18/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57509861 | TAAAAA | T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp2 others(13): Show |
a0007a0017a0019others(5): Show | a0007c0008a0007c0016a0007c0017others(8): Show | a0007c0008t0002a0007c0016t0001a0007c0017t0001others(8): Show | a0007c0008t0002g0046a0007c0008t0002g0078a0007c0008t0002g0081others(13): Show | 16 | 266 | 0.0602 | -5 | c.470 others(20): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 5/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57516824 | AGTTAT | A | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02717.hp1 others(6): Show |
a0012a0013a0020others(1): Show | a0012c0010a0013c0009a0020c0019others(1): Show | a0012c0010t0002a0013c0009t0001a0020c0019t0001others(1): Show | a0012c0010t0002g0253a0012c0010t0002g0259a0012c0010t0002g0260others(6): Show | 9 | 266 | 0.0338 | -5 | c.280 others(22): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 224938337 | TAACTC | T | intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG01891.hp2 others(21): Show |
a0004a0007a0008others(10): Show | a0004c0083a0007c0009a0007c0048others(11): Show | a0004c0083t0001a0007c0009t0001a0007c0048t0001others(11): Show | a0004c0083t0001g0023a0007c0009t0001g0004a0007c0009t0001g0005others(21): Show | 24 | 240 | 0.1000 | -5 | c.-34 others(22): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 1/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 224938443 | TTGACA | T | intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG01891.hp2 others(21): Show |
a0004a0007a0008others(10): Show | a0004c0083a0007c0009a0007c0048others(11): Show | a0004c0083t0001a0007c0009t0001a0007c0048t0001others(11): Show | a0004c0083t0001g0023a0007c0009t0001g0004a0007c0009t0001g0005others(21): Show | 24 | 240 | 0.1000 | -5 | c.-34 others(22): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 1/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225024154 | TTTCTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(47): Show |
a0002a0004a0012others(17): Show | a0002c0003a0002c0025a0002c0073others(20): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(21): Show | a0002c0003t0001g0041a0002c0003t0001g0048a0002c0003t0001g0052others(47): Show | 50 | 240 | 0.2083 | -5 | c.135 others(22): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225049045 | CTATTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01255.hp1 others(7): Show |
a0002a0004a0022others(3): Show | a0002c0003a0004c0004a0022c0023others(3): Show | a0002c0003t0001a0004c0004t0001a0022c0023t0001others(3): Show | a0002c0003t0001g0075a0002c0003t0001g0076a0002c0003t0001g0084others(7): Show | 10 | 240 | 0.0417 | -5 | c.191 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225049047 | ATTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(56): Show |
a0001a0003a0005others(26): Show | a0001c0001a0001c0008a0003c0002others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(30): Show | a0001c0001t0001g0132a0001c0001t0001g0147a0001c0001t0001g0149others(56): Show | 59 | 240 | 0.2458 | -5 | c.191 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225091067 | TTAAAA | T | intron_variant | MODIFIER | HG02027.hp1 HG02818.hp2 HG03491.hp1 others(5): Show |
a0021a0036a0037others(4): Show | a0021c0034a0036c0120a0037c0121others(4): Show | a0021c0034t0001a0036c0120t0001a0037c0121t0001others(4): Show | a0021c0034t0001g0089a0021c0034t0001g0090a0036c0120t0001g0088others(5): Show | 8 | 240 | 0.0333 | -5 | c.357 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225094818 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(86): Show |
a0002a0004a0007others(45): Show | a0002c0003a0002c0025a0002c0073others(49): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(50): Show | a0002c0003t0001g0041a0002c0003t0001g0048a0002c0003t0001g0052others(86): Show | 89 | 240 | 0.3708 | -5 | c.357 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225130829 | TAATAA | T | intron_variant | MODIFIER | HG02273.hp2 HG02818.hp2 NA19056.hp1 |
a0028a0074a0111 | a0028c0032a0074c0117a0111c0119 | a0028c0032t0001a0074c0117t0001a0111c0119t0001 | a0028c0032t0001g0209a0074c0117t0001g0191a0111c0119t0001g0240 | 3 | 240 | 0.0125 | -5 | c.425 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 27/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225174278 | TAAAAG | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(62): Show |
a0002a0003a0004others(25): Show | a0002c0003a0002c0025a0002c0073others(29): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(30): Show | a0002c0003t0001g0041a0002c0003t0001g0048a0002c0003t0001g0052others(62): Show | 65 | 240 | 0.2708 | -5 | c.553 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 36/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225231312 | CTAATA | C | intron_variant | MODIFIER | HG00733.hp2 HG01515.hp1 HG04204.hp2 others(1): Show |
a0003a0090 | a0003c0002a0090c0108 | a0003c0002t0001a0090c0108t0001 | a0003c0002t0001g0117a0003c0002t0001g0121a0003c0002t0001g0148others(1): Show | 4 | 240 | 0.0167 | -5 | c.651 others(22): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 42/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225322085 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG03098.hp1 others(3): Show |
a0009a0056a0060others(1): Show | a0009c0035a0009c0125a0056c0059others(2): Show | a0009c0035t0001a0009c0125t0001a0056c0059t0001others(2): Show | a0009c0035t0001g0214a0009c0035t0001g0215a0009c0125t0001g0213others(3): Show | 6 | 240 | 0.0250 | -5 | c.933 others(22): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 61/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374261 | TATATA | T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01074.hp1 others(32): Show |
a0001a0002a0007others(10): Show | a0001c0001a0001c0008a0002c0003others(12): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(12): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0132others(32): Show | 35 | 240 | 0.1458 | -5 | c.123 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225374265 | TATATA | T | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01123.hp1 others(43): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0008a0002c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(24): Show | a0001c0001t0001g0164a0001c0001t0001g0170a0001c0001t0002g0163others(43): Show | 46 | 240 | 0.1917 | -5 | c.123 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225398046 | CAAAAA | C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03927.hp1 others(4): Show |
a0021a0028a0048others(2): Show | a0021c0034a0028c0032a0048c0071others(2): Show | a0021c0034t0001a0028c0032t0001a0048c0071t0001others(2): Show | a0021c0034t0001g0089a0021c0034t0001g0090a0028c0032t0001g0126others(4): Show | 7 | 240 | 0.0292 | -5 | c.134 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 84/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78425279 | TTTATC | T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00733.hp1 others(33): Show |
a0002a0003a0004others(28): Show | a0002c0050a0003c0099a0003c0145others(31): Show | a0002c0050t0002a0003c0099t0002a0003c0145t0002others(31): Show | a0002c0050t0002g0004a0003c0099t0002g0133a0003c0145t0002g0066others(33): Show | 36 | 252 | 0.1429 | -5 | c.131 others(22): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 80/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78425756 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG01516.hp2 HG01517.hp1 others(3): Show |
a0003a0008a0013others(2): Show | a0003c0145a0008c0071a0013c0012others(2): Show | a0003c0145t0002a0008c0071t0002a0013c0012t0002others(2): Show | a0003c0145t0002g0066a0008c0071t0002g0200a0013c0012t0002g0222others(3): Show | 6 | 252 | 0.0238 | -5 | c.129 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78427966 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00733.hp1 others(16): Show |
a0003a0008a0019others(14): Show | a0003c0099a0003c0145a0008c0066others(16): Show | a0003c0099t0002a0003c0145t0002a0008c0066t0002others(16): Show | a0003c0099t0002g0133a0003c0145t0002g0066a0008c0066t0002g0208others(16): Show | 19 | 252 | 0.0754 | -5 | c.125 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 77/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78428923 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00733.hp1 others(17): Show |
a0003a0008a0013others(14): Show | a0003c0099a0003c0145a0008c0066others(16): Show | a0003c0099t0002a0003c0145t0002a0008c0066t0002others(16): Show | a0003c0099t0002g0133a0003c0145t0002g0066a0008c0066t0002g0208others(17): Show | 20 | 252 | 0.0794 | -5 | c.124 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 76/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78430315 | AATAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00733.hp1 others(32): Show |
a0002a0003a0004others(27): Show | a0002c0050a0003c0099a0003c0145others(30): Show | a0002c0050t0002a0003c0099t0002a0003c0145t0002others(30): Show | a0002c0050t0002g0004a0003c0099t0002g0133a0003c0145t0002g0066others(32): Show | 35 | 252 | 0.1389 | -5 | c.122 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78446628 | ATTTAT | A | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01106.hp1 others(55): Show |
a0001a0002a0003others(43): Show | a0001c0105a0001c0114a0002c0050others(52): Show | a0001c0105t0001a0001c0114t0001a0002c0050t0002others(52): Show | a0001c0105t0001g0053a0001c0114t0001g0154a0002c0050t0002g0004others(55): Show | 58 | 252 | 0.2302 | -5 | c.112 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 69/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78468031 | AAAGAG | A | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG03669.hp2 others(4): Show |
a0001a0002a0004others(4): Show | a0001c0130a0002c0178a0004c0103others(4): Show | a0001c0130t0001a0002c0178t0001a0004c0103t0001others(4): Show | a0001c0130t0001g0175a0002c0178t0001g0150a0004c0103t0001g0111others(4): Show | 7 | 252 | 0.0278 | -5 | c.877 others(22): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 55/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78492314 | ATGTCT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp2 others(42): Show |
a0001a0002a0004others(33): Show | a0001c0111a0001c0126a0001c0131others(42): Show | a0001c0111t0001a0001c0126t0001a0001c0131t0001others(42): Show | a0001c0111t0001g0069a0001c0126t0001g0056a0001c0131t0001g0041others(42): Show | 45 | 252 | 0.1786 | -5 | c.654 others(22): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 42/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78503169 | CTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG02300.hp1 HG02896.hp2 others(4): Show |
a0005a0012a0014others(4): Show | a0005c0053a0012c0167a0014c0062others(4): Show | a0005c0053t0001a0012c0167t0001a0014c0062t0001others(4): Show | a0005c0053t0001g0176a0012c0167t0001g0094a0014c0062t0001g0193others(4): Show | 7 | 252 | 0.0278 | -5 | c.495 others(22): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 31/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78519167 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(65): Show |
a0001a0002a0003others(36): Show | a0001c0105a0001c0110a0001c0111others(58): Show | a0001c0105t0001a0001c0110t0001a0001c0111t0001others(58): Show | a0001c0105t0001g0053a0001c0110t0001g0210a0001c0111t0001g0069others(65): Show | 68 | 252 | 0.2698 | -5 | c.386 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 25/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78538138 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(59): Show |
a0001a0003a0004others(34): Show | a0001c0001a0001c0008a0001c0040others(53): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(54): Show | a0001c0001t0001g0159a0001c0001t0001g0178a0001c0001t0001g0188others(59): Show | 62 | 252 | 0.2460 | -5 | c.267 others(22): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 18/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78540978 | GGTGGC | G | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp1 HG02622.hp1 others(1): Show |
a0002a0007a0010others(1): Show | a0002c0094a0007c0223a0010c0212others(1): Show | a0002c0094t0001a0007c0223t0001a0010c0212t0001others(1): Show | a0002c0094t0001g0173a0007c0223t0001g0121a0010c0212t0001g0025others(1): Show | 4 | 252 | 0.0159 | -5 | c.253 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78543114 | GGTTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(160): Show |
a0001a0002a0003others(97): Show | a0001c0001a0001c0008a0001c0020others(144): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(145): Show | a0001c0001t0001g0055a0001c0001t0001g0159a0001c0001t0001g0178others(160): Show | 163 | 252 | 0.6468 | -5 | c.253 others(22): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78553315 | TTTTTA | T | intron_variant | MODIFIER | HG02055.hp1 HG02132.hp2 HG02145.hp1 others(5): Show |
a0002a0010a0028others(5): Show | a0002c0179a0010c0091a0028c0200others(5): Show | a0002c0179t0001a0010c0091t0005a0028c0200t0001others(5): Show | a0002c0179t0001g0151a0010c0091t0005g0003a0028c0200t0001g0046others(5): Show | 8 | 252 | 0.0318 | -5 | c.217 others(22): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78563923 | CCGCTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 NA19062.hp1 |
a0020a0021a0035 | a0020c0013a0021c0228a0035c0104 | a0020c0013t0001a0021c0228t0001a0035c0104t0001 | a0020c0013t0001g0184a0021c0228t0001g0016a0035c0104t0001g0183 | 3 | 252 | 0.0119 | -5 | c.157 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 11/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78564362 | CTTAAT | C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02451.hp1 others(6): Show |
a0005a0024a0029others(6): Show | a0005c0226a0024c0018a0029c0201others(6): Show | a0005c0226t0002a0024c0018t0001a0029c0201t0001others(6): Show | a0005c0226t0002g0079a0024c0018t0001g0012a0029c0201t0001g0140others(6): Show | 9 | 252 | 0.0357 | -5 | c.156 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 11/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78568550 | CTCTCA | C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02572.hp1 others(7): Show |
a0003a0004a0033others(6): Show | a0003c0006a0004c0081a0033c0074others(6): Show | a0003c0006t0001a0004c0081t0001a0033c0074t0001others(6): Show | a0003c0006t0001g0148a0003c0006t0001g0149a0004c0081t0001g0024others(7): Show | 10 | 252 | 0.0397 | -5 | c.128 others(22): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 9/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78570881 | AAAAAG | A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02809.hp1 others(1): Show |
a0029a0056a0086others(1): Show | a0029c0201a0056c0112a0086c0045others(1): Show | a0029c0201t0001a0056c0112t0001a0086c0045t0001others(1): Show | a0029c0201t0001g0140a0056c0112t0001g0072a0086c0045t0001g0109others(1): Show | 4 | 252 | 0.0159 | -5 | c.918 others(18): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 6/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7731134 | TAATTA | T | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01192.hp2 others(9): Show |
a0001a0002a0014others(2): Show | a0001c0046a0001c0049a0001c0050others(7): Show | a0001c0046t0004a0001c0049t0002a0001c0050t0003others(7): Show | a0001c0046t0004g0230a0001c0049t0002g0010a0001c0050t0003g0306others(9): Show | 12 | 316 | 0.0380 | -5 | c.400 others(22): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20928776 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(31): Show |
a0001a0003a0004others(9): Show | a0001c0003a0001c0064a0001c0094others(14): Show | a0001c0003t0001a0001c0064t0001a0001c0094t0001others(16): Show | a0001c0003t0001g0031a0001c0003t0001g0033a0001c0003t0001g0126others(31): Show | 34 | 234 | 0.1453 | -5 | c.*43 others(16): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 4334 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTT | A | intron_variant | MODIFIER | HG01169.hp1 HG01261.hp2 HG02004.hp1 others(6): Show |
a0001a0019a0043others(1): Show | a0001c0001a0001c0002a0019c0023others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0001g0224others(6): Show | 9 | 234 | 0.0385 | -5 | c.832 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20969661 | CTTTCT | C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp1 others(24): Show |
a0004a0006a0024others(5): Show | a0004c0007a0004c0027a0004c0028others(12): Show | a0004c0007t0001a0004c0007t0002a0004c0027t0001others(14): Show | a0004c0007t0001g0167a0004c0007t0001g0169a0004c0007t0001g0170others(24): Show | 27 | 234 | 0.1154 | -5 | c.832 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20974339 | CTTTGT | C | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 NA19240.hp1 |
a0001a0005 | a0001c0033a0005c0078 | a0001c0033t0001a0005c0078t0001 | a0001c0033t0001g0075a0001c0033t0001g0077a0005c0078t0001g0160 | 3 | 234 | 0.0128 | -5 | c.812 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 51/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20980255 | ATATAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp1 others(26): Show |
a0004a0006a0007others(7): Show | a0004c0007a0004c0027a0004c0028others(14): Show | a0004c0007t0001a0004c0007t0002a0004c0027t0001others(16): Show | a0004c0007t0001g0167a0004c0007t0001g0169a0004c0007t0001g0170others(26): Show | 29 | 234 | 0.1239 | -5 | c.772 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20980284 | TTATAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp1 others(25): Show |
a0004a0006a0022others(6): Show | a0004c0007a0004c0027a0004c0028others(13): Show | a0004c0007t0001a0004c0007t0002a0004c0027t0001others(15): Show | a0004c0007t0001g0167a0004c0007t0001g0169a0004c0007t0001g0170others(25): Show | 28 | 234 | 0.1197 | -5 | c.772 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20980310 | ATATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 |
a0001 | a0001c0003a0001c0064 | a0001c0003t0001a0001c0064t0001 | a0001c0003t0001g0031a0001c0064t0001g0038 | 2 | 234 | 0.0086 | -5 | c.772 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20980327 | CTATAT | C | intron_variant | MODIFIER | HG01106.hp1 HG03654.hp2 |
a0008 | a0008c0016a0008c0021 | a0008c0016t0001a0008c0021t0001 | a0008c0016t0001g0056a0008c0021t0001g0043 | 2 | 234 | 0.0086 | -5 | c.772 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21003780 | TAAATC | T | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03225.hp1 |
a0001a0013a0033 | a0001c0026a0013c0017a0033c0077 | a0001c0026t0001a0013c0017t0001a0033c0077t0001 | a0001c0026t0001g0119a0013c0017t0001g0049a0033c0077t0001g0230 | 3 | 234 | 0.0128 | -5 | c.588 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 41/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21009911 | AGGAGG | A | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01106.hp1 others(32): Show |
a0004a0006a0008others(9): Show | a0004c0007a0004c0027a0004c0028others(17): Show | a0004c0007t0001a0004c0007t0002a0004c0027t0001others(19): Show | a0004c0007t0001g0167a0004c0007t0001g0169a0004c0007t0001g0170others(32): Show | 35 | 234 | 0.1496 | -5 | c.588 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 41/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21009965 | GGAGAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(64): Show |
a0001a0003a0004others(15): Show | a0001c0002a0001c0011a0001c0022others(28): Show | a0001c0002t0001a0001c0011t0001a0001c0011t0002others(31): Show | a0001c0002t0001g0029a0001c0002t0001g0147a0001c0002t0001g0149others(64): Show | 67 | 234 | 0.2863 | -5 | c.588 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 41/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21037310 | AAAAAC | A | intron_variant | MODIFIER | HG01257.hp2 HG01496.hp1 HG02040.hp1 others(18): Show |
a0002a0027a0052others(2): Show | a0002c0004a0002c0006a0002c0025others(5): Show | a0002c0004t0001a0002c0004t0002a0002c0006t0001others(6): Show | a0002c0004t0001g0124a0002c0004t0001g0166a0002c0004t0001g0174others(18): Show | 21 | 234 | 0.0897 | -5 | c.481 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 34/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21046972 | ATTCTT | A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 |
a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0046a0017c0024t0001g0047 | 2 | 234 | 0.0086 | -5 | c.432 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 31/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21128880 | AAAAAG | A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00741.hp2 others(22): Show |
a0001a0002a0004others(6): Show | a0001c0013a0001c0034a0001c0100others(9): Show | a0001c0013t0001a0001c0034t0001a0001c0100t0001others(9): Show | a0001c0013t0001g0048a0001c0013t0001g0062a0001c0013t0001g0070others(22): Show | 25 | 234 | 0.1068 | -5 | c.996 others(22): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 8/61 | chr16 | TogoVar |