| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADCY9_chr16_3957653_4121442 | 3988499 | TGGGGGGT others(46): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01978.hp1 homoSapiens_chm13v2.hp1 |
a0003 | a0003c0013a0003c0030 | a0003c0013t0012a0003c0013t0046a0003c0030t0012 | a0003c0013t0012g0185a0003c0013t0046g0008a0003c0030t0012g0136 | 3 | 320 | 0.0094 | -53 | c.231 others(70): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 6/10 | chr16 | TogoVar | ||||||
| ADGB_chr6_146593972_146820462 | 146691439 | TATAAAAA others(46): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 NA19240.hp1 |
a0004a0005a0007 | a0004c0008a0005c0007a0007c0017 | a0004c0008t0002a0005c0007t0001a0007c0017t0001 | a0004c0008t0002g0229a0005c0007t0001g0232a0007c0017t0001g0231 | 3 | 276 | 0.0109 | -53 | c.148 others(70): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | chr6 | TogoVar | ||||||
| ADGB_chr6_146593972_146820462 | 146691442 | AAAAATAT others(46): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0026 | a0026c0053 | a0026c0053t0001 | a0026c0053t0001g0064 | 1 | 276 | 0.0036 | -53 | c.148 others(70): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADGRD1_chr12_130948907_131146469 | 131046252 | TCCTCCTG others(46): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03486.hp2 |
a0001a0008 | a0001c0003a0008c0034 | a0001c0003t0013a0008c0034t0026 | a0001c0003t0013g0224a0001c0003t0013g0225a0008c0034t0026g0043 | 3 | 242 | 0.0124 | -53 | c.147 others(74): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ADGRG3_chr16_57663306_57694378 | 57691900 | CTGCCTGG others(46): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0224 | 1 | 448 | 0.0022 | -53 | c.*34 others(64): Show |
ADGRG3 | ENSG00000182885.17 | transcript | ENST00000333493.9 | protein_coding | 2523 | chr16 | TogoVar | ||||||
| ADSS1_chr14_104719229_104752310 | 104729535 | GTGGGGAG others(46): Show |
G | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 402 | 0.0025 | -53 | c.192 others(70): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
| AFF2_chrX_148495617_149005663 | 148897230 | TATATATA others(46): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0126 | 1 | 169 | 0.0059 | -53 | c.136 others(72): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AGTPBP1_chr9_85541539_85746954 | 85630413 | TATTGAGA others(46): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0298 | 1 | 302 | 0.0033 | -53 | c.201 others(72): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
| AK8_chr9_132720578_132883284 | 132723215 | GTTCTTAA others(46): Show |
G | downstream_gene_variant | MODIFIER | HG03130.hp2 NA19000.hp2 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0045a0001c0001t0001g0193others(1): Show | 4 | 266 | 0.0150 | -53 | c.*24 others(64): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 2362 | chr9 | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1587660 | CCCCTCCC others(46): Show |
C | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0061 | 1 | 151 | 0.0066 | -53 | c.-41 others(64): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3943 | chrX | TogoVar | ||||||
| AKAP3_chr12_4610518_4654051 | 4611131 | GTTGGATG others(46): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0120 | 1 | 418 | 0.0024 | -53 | c.*45 others(64): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4386 | chr12 | TogoVar | ||||||
| ALDH1L2_chr12_105014790_105089458 | 105082878 | ACAGGATA others(46): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015 | a0001c0001t0013g0369a0001c0001t0015g0368 | 2 | 386 | 0.0052 | -53 | c.48+ others(68): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
| ALDH3B2_chr11_67657155_67679623 | 67668702 | ACTGTGTG others(46): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00642.hp2 others(31): Show |
a0001a0002a0020others(1): Show | a0001c0001a0002c0002a0020c0028others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0019others(4): Show | a0001c0001t0001g0040a0001c0001t0001g0168a0002c0002t0002g0016others(20): Show | 34 | 390 | 0.0872 | -53 | c.-24 others(72): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| ANAPC7_chr12_110367900_110408708 | 110400598 | TAAATCTC others(46): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 298 | 0.0034 | -53 | c.101 others(70): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| ANGPT2_chr8_6494632_6568245 | 6505287 | TTATATAC others(46): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0007 | a0001c0007t0066 | a0001c0007t0066g0271 | 1 | 336 | 0.0030 | -53 | c.132 others(72): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
| ANKRD20A1_chr9_67853931_67907394 | 67859076 | CCGGCAGC others(46): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | 9 | 0.8889 | -53 | c.-34 others(62): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 288 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
| ANKRD31_chr5_75063297_75241878 | 75206231 | AAAAAAAA others(46): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0052a0006c0006t0001g0053 | 2 | 334 | 0.0060 | -53 | c.403 others(68): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | ||||||
| ANKRD31_chr5_75063297_75241878 | 75206235 | AAAAAAAA others(46): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp2 HG01261.hp2 others(8): Show |
a0005a0022a0023 | a0005c0004a0022c0026a0023c0027 | a0005c0004t0001a0022c0026t0001a0023c0027t0001 | a0005c0004t0001g0286a0005c0004t0001g0290a0005c0004t0001g0292others(8): Show | 11 | 334 | 0.0329 | -53 | c.403 others(68): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | ||||||
| ANKRD31_chr5_75063297_75241878 | 75206237 | AAAAAAAA others(46): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02886.hp2 HG03579.hp1 others(1): Show |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0288a0005c0004t0001g0289a0005c0004t0001g0299others(1): Show | 4 | 334 | 0.0120 | -53 | c.403 others(68): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | ||||||
| ANXA5_chr4_121662946_121701980 | 121665664 | CCCTCCCT others(46): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013a0001c0001t0005g0117a0001c0001t0005g0118others(1): Show | 7 | 338 | 0.0207 | -53 | c.*27 others(64): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 2281 | chr4 | TogoVar | ||||||
| APPL2_chr12_105168300_105241174 | 105186633 | TATCATAT others(46): Show |
T | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp2 NA20129.hp1 |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0145a0002c0007t0002g0146a0002c0007t0002g0147 | 3 | 392 | 0.0077 | -53 | c.163 others(72): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
| AQP8_chr16_25211947_25233932 | 25216108 | CTTTCTTT others(46): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG02280.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0069a0001c0001t0001g0077others(8): Show | 12 | 420 | 0.0286 | -53 | c.-93 others(62): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 838 | chr16 | TogoVar | ||||||
| ARHGEF1_chr19_41878184_41912452 | 41896870 | CCTCTCAC others(46): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03098.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0117a0001c0001t0001g0118 | 5 | 234 | 0.0214 | -53 | c.112 others(70): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 13/28 | chr19 | TogoVar | ||||||
| ARHGEF38_chr4_105547620_105685914 | 105561396 | AGAATAAT others(46): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0183 | 1 | 186 | 0.0054 | -53 | c.196 others(70): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ARRB2_chr17_4705632_4726497 | 4717775 | TGGTGTAA others(46): Show |
T | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 432 | 0.0023 | -53 | c.485 others(66): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ARSF_chrX_3036471_3117727 | 3037127 | TAATATTA others(46): Show |
T | upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 193 | 0.0052 | -53 | c.-45 others(64): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4343 | chrX | TogoVar | ||||||
| ARSH_chrX_3001546_3039111 | 3037127 | TAATATTA others(46): Show |
T | downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 248 | 0.0040 | -53 | c.*37 others(64): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 3017 | chrX | TogoVar | ||||||
| ASH2L_chr8_38100529_38145080 | 38113725 | CTAAGTTA others(46): Show |
C | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 330 | 0.0030 | -53 | c.586 others(68): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ASTN2_chr9_116418112_117420057 | 117016632 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 102 | 0.0098 | -53 | c.142 others(72): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | ||||||
| ATAD2_chr8_123314850_123401447 | 123315547 | AGGCCAGC others(46): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 NA18959.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0211a0001c0001t0001g0218 | 3 | 278 | 0.0108 | -53 | c.*55 others(64): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 4302 | chr8 | TogoVar | ||||||
| ATG4B_chr2_241632693_241678857 | 241662740 | TGGGCCGG others(46): Show |
T | intron_variant | MODIFIER | NA18957.hp2 NA18975.hp1 NA19056.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0017a0001c0002t0005g0077a0001c0002t0005g0080 | 4 | 410 | 0.0098 | -53 | c.538 others(70): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATG4B_chr2_241632693_241678857 | 241662751 | TGGTGGCT others(46): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0084 | 1 | 410 | 0.0024 | -53 | c.538 others(70): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATG4B_chr2_241632693_241678857 | 241662857 | CGGTGGCT others(46): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 410 | 0.0024 | -53 | c.538 others(70): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATG9B_chr7_151010151_151029494 | 151027375 | TCTCCCCA others(46): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(165): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0002a0001c0007others(23): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0012others(75): Show | 168 | 466 | 0.3605 | -53 | c.-30 others(64): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 2882 | chr7 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25770140 | AAACACGA others(46): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0031 | 1 | 300 | 0.0033 | -53 | c.654 others(72): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112864181 | AGCACGTG others(46): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 254 | 0.0039 | -53 | c.299 others(72): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP2B2_chr3_10319023_10510586 | 10458389 | GGGAATCA others(46): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG03490.hp1 HG03654.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0003t0001others(4): Show | a0001c0001t0001g0146a0001c0001t0015g0108a0001c0003t0001g0256others(6): Show | 9 | 290 | 0.0310 | -53 | c.-31 others(72): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP6V1C2_chr2_10716630_10790110 | 10782060 | AATTCTAG others(46): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp1 others(1): Show |
a0002a0006 | a0002c0007a0006c0014 | a0002c0007t0009a0006c0014t0021 | a0002c0007t0009g0028a0002c0007t0009g0029a0002c0007t0009g0151others(1): Show | 4 | 354 | 0.0113 | -53 | c.106 others(70): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 12/13 | chr2 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42555086 | TATCTATC others(46): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02293.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0032others(1): Show | a0001c0001t0008g0093a0001c0001t0009g0223a0001c0001t0032g0279others(1): Show | 4 | 310 | 0.0129 | -53 | c.141 others(70): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
| AVL9_chr7_32490489_32593726 | 32579471 | ATTATATT others(46): Show |
A | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 1 | 330 | 0.0030 | -53 | c.168 others(70): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVL9_chr7_32490489_32593726 | 32579535 | ATTATATA others(46): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0298a0001c0001t0058g0300 | 2 | 330 | 0.0061 | -53 | c.168 others(70): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVPI1_chr10_97672424_97692241 | 97678881 | GTGTGTGT others(46): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0034 | 2 | 446 | 0.0045 | -53 | c.287 others(68): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
| B3GALT5_chr21_39607940_39678137 | 39672881 | TGGGGTGG others(46): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0093 | a0002c0002t0093g0033 | 1 | 336 | 0.0030 | -53 | c.*11 others(66): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 11390 | chr21 | TogoVar | |||||
| B3GNTL1_chr17_82937149_83056770 | 82962522 | CCCGCGGG others(46): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp1 HG03225.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0015a0001c0011t0010 | a0001c0003t0015g0198a0001c0011t0010g0146a0001c0011t0010g0147 | 3 | 266 | 0.0113 | -53 | c.556 others(70): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83032176 | CGGGAGCT others(46): Show |
C | intron_variant | MODIFIER | HG01243.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0178a0001c0001t0017g0177 | 2 | 266 | 0.0075 | -53 | c.297 others(70): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| BANK1_chr4_101785730_102079812 | 101791199 | GTGTCTGC others(46): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG02056.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0003a0003c0004others(3): Show | a0001c0002t0003a0002c0003t0002a0003c0004t0001others(4): Show | a0001c0002t0003g0014a0002c0003t0002g0007a0003c0004t0001g0005others(10): Show | 13 | 284 | 0.0458 | -53 | c.70+ others(66): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BANP_chr16_87946434_88082316 | 87987685 | CACTCCAG others(46): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055a0001c0002t0002g0056 | 2 | 352 | 0.0057 | -53 | c.362 others(70): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BAZ2B_chr2_159313979_159621548 | 159325032 | TTATATAT others(46): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp2 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0002 | a0002c0002t0001g0128a0002c0007t0002g0135 | 2 | 216 | 0.0093 | -53 | c.621 others(69): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159325041 | TATTATAT others(46): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG02896.hp2 |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0001a0002c0002t0002 | a0001c0008t0001g0035a0002c0002t0002g0140 | 2 | 216 | 0.0093 | -53 | c.621 others(69): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60507213 | AGGAAGGA others(46): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG03654.hp1 HG03710.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0030others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0058a0001c0001t0004g0072others(4): Show | 7 | 262 | 0.0267 | -53 | c.386 others(72): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar |