| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANKRD31_chr5_75063297_75241878 | 75206234 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG03579.hp2 NA18906.hp1 |
a0004a0006a0026 | a0004c0005a0006c0006a0026c0024 | a0004c0005t0001a0006c0006t0001a0026c0024t0007 | a0004c0005t0001g0309a0006c0006t0001g0164a0026c0024t0007g0016 | 3 | 334 | 0.0090 | -50 | c.403 others(65): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | ||||||
| ANKRD31_chr5_75063297_75241878 | 75206236 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02572.hp1 HG02622.hp1 others(6): Show |
a0004a0006a0015 | a0004c0005a0006c0006a0015c0034 | a0004c0005t0001a0006c0006t0001a0006c0006t0004others(1): Show | a0004c0005t0001g0306a0004c0005t0001g0310a0004c0005t0001g0311others(6): Show | 9 | 334 | 0.0270 | -50 | c.403 others(65): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | ||||||
| ANKRD54_chr22_37825855_37849334 | 37845116 | AGTAATAG others(43): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 384 | 0.0026 | -50 | c.-92 others(59): Show |
ANKRD54 | ENSG00000100124.15 | transcript | ENST00000215941.9 | protein_coding | 783 | chr22 | TogoVar | ||||||
| ANTXR2_chr4_79896146_80078229 | 80015893 | AAGGAAAG others(43): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01070.hp1 others(41): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0002g0207a0001c0001t0002g0212a0001c0001t0002g0213others(41): Show | 44 | 268 | 0.1642 | -50 | c.945 others(67): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | ||||||
| ANXA10_chr4_168087537_168192736 | 168155729 | ATATGATA others(43): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 284 | 0.0035 | -50 | c.196 others(67): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ANXA2_chr15_60342151_60402986 | 60367167 | AGGGGGGG others(43): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0255 | 2 | 334 | 0.0060 | -50 | c.149 others(67): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
| AP1B1_chr22_29322680_29393570 | 29324982 | GAGCCTGG others(43): Show |
G | downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 378 | 0.0027 | -50 | c.*37 others(61): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2697 | chr22 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 1009427 | GACACGCA others(43): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 268 | 0.0037 | -50 | c.260 others(65): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 1009439 | GTGACCCC others(43): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0131 | 1 | 268 | 0.0037 | -50 | c.260 others(66): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 1009539 | GCGACCCA others(43): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01978.hp1 HG01981.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0007 | a0001c0001t0001a0001c0001t0016a0001c0004t0009others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0051others(4): Show | 7 | 268 | 0.0261 | -50 | c.260 others(65): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP3D1_chr19_2095988_2156566 | 2129177 | AGGGCCTC others(43): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02922.hp2 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0184a0001c0008t0002g0185a0001c0008t0002g0253 | 3 | 406 | 0.0074 | -50 | c.733 others(63): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 7/31 | chr19 | TogoVar | ||||||
| AQP7B_chr2_94582311_94609628 | 94583292 | TTTGGGAA others(43): Show |
T | upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 384 | 0.0026 | -50 | c.-41 others(61): Show |
AQP7B | ENSG00000259916.2 | transcript | ENST00000561882.2 | protein_coding | 4018 | chr2 | TogoVar | ||||||
| AQR_chr15_34846782_34974742 | 34946381 | CGGGGGGG others(43): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0255 | 1 | 312 | 0.0032 | -50 | c.330 others(67): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 5/34 | chr15 | TogoVar | ||||||
| ARHGAP10_chr4_147727088_148077776 | 147784805 | TAATATAT others(43): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18906.hp1 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0004c0010t0001 | a0001c0001t0001g0088a0004c0010t0001g0048 | 2 | 106 | 0.0189 | -50 | c.155 others(69): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ARHGAP21_chr10_24578614_24728887 | 24656308 | GCCTGGCC others(43): Show |
G | intron_variant | MODIFIER | NA19081.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0214 | 1 | 352 | 0.0028 | -50 | c.268 others(69): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | ||||||
| ARHGAP21_chr10_24578614_24728887 | 24656889 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342a0001c0001t0002g0346 | 2 | 352 | 0.0057 | -50 | c.268 others(69): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | ||||||
| ARHGAP21_chr10_24578614_24728887 | 24657069 | TGGGGGTG others(43): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 352 | 0.0028 | -50 | c.268 others(67): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | ||||||
| ARHGAP24_chr4_85470150_86007666 | 85487554 | CATATTAT others(43): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02145.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0006 | a0001c0001t0001g0030a0001c0001t0001g0032a0002c0006t0006g0031 | 3 | 108 | 0.0278 | -50 | c.-21 others(69): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ARHGAP25_chr2_68729811_68831833 | 68752301 | AATGAAAT others(43): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02970.hp1 others(2): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0005a0002c0002t0010a0002c0004t0005others(2): Show | a0001c0001t0005g0046a0002c0002t0010g0045a0002c0004t0005g0060others(2): Show | 5 | 368 | 0.0136 | -50 | c.61+ others(67): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ARHGAP31_chr3_119289383_119425714 | 119424300 | CCTGTTAA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02572.hp2 others(4): Show |
a0004a0006 | a0004c0007a0006c0011 | a0004c0007t0015a0004c0007t0044a0004c0007t0054others(1): Show | a0004c0007t0015g0016a0004c0007t0015g0030a0004c0007t0015g0052others(4): Show | 7 | 310 | 0.0226 | -50 | c.*80 others(61): Show |
ARHGAP31 | ENSG00000031081.11 | transcript | ENST00000264245.9 | protein_coding | 3587 | chr3 | TogoVar | ||||||
| ARHGEF28_chr5_73621196_73946990 | 73737439 | CTTCTTTT others(43): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 |
a0001a0004 | a0001c0025a0004c0004 | a0001c0025t0001a0004c0004t0001 | a0001c0025t0001g0156a0004c0004t0001g0155 | 2 | 188 | 0.0106 | -50 | c.34- others(67): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGEF28_chr5_73621196_73946990 | 73741377 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG03453.hp1 |
a0003a0007a0011 | a0003c0007a0007c0009a0011c0016 | a0003c0007t0001a0007c0009t0001a0011c0016t0001 | a0003c0007t0001g0140a0007c0009t0001g0121a0011c0016t0001g0126 | 3 | 188 | 0.0160 | -50 | c.34- others(65): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGEF28_chr5_73621196_73946990 | 73741379 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01175.hp2 others(1): Show |
a0003a0009a0017 | a0003c0048a0009c0012a0017c0066 | a0003c0048t0006a0009c0012t0003a0017c0066t0001 | a0003c0048t0006g0176a0009c0012t0003g0108a0009c0012t0003g0115others(1): Show | 4 | 188 | 0.0213 | -50 | c.34- others(65): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGEF28_chr5_73621196_73946990 | 73775881 | GTCTTGAA others(43): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
a0001a0002a0003others(28): Show | a0001c0021a0001c0025a0002c0002others(51): Show | a0001c0021t0008a0001c0025t0001a0001c0025t0005others(84): Show | a0001c0021t0008g0102a0001c0025t0001g0156a0001c0025t0005g0131others(126): Show | 129 | 188 | 0.6862 | -50 | c.660 others(65): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 5/35 | chr5 | TogoVar | ||||||
| ARRB2_chr17_4705632_4726497 | 4714563 | TTTCCCCT others(43): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0057a0001c0002t0001g0009a0001c0002t0001g0044others(8): Show | 20 | 432 | 0.0463 | -50 | c.24- others(63): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ARSF_chrX_3036471_3117727 | 3112535 | GGGTCCTA others(43): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02451.hp2 |
a0000 | a0000c0014a0000c0018 | a0000c0014t0002a0000c0018t0002 | a0000c0014t0002g0022a0000c0018t0002g0129 | 2 | 193 | 0.0104 | -50 | c.*18 others(57): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 11/11 | 18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| ARVCF_chr22_19964896_20021823 | 19994550 | AGATGAAT others(43): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 NA18951.hp1 others(1): Show |
a0001 | a0001c0001a0001c0035 | a0001c0001t0001a0001c0035t0001 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0001g0239others(1): Show | 4 | 374 | 0.0107 | -50 | c.-18 others(67): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 2/19 | chr22 | TogoVar | ||||||
| ASB16_chr17_44165704_44184084 | 44180602 | TGGGGGGT others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 362 | 0.0028 | -50 | c.*22 others(61): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 1519 | chr17 | TogoVar | ||||||
| ASB18_chr2_236188459_236269406 | 236237334 | CGCGGGGG others(43): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02683.hp1 HG03209.hp2 others(10): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0223a0001c0003t0001g0112others(8): Show | 13 | 250 | 0.0520 | -50 | c.596 others(65): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | ||||||
| ASB18_chr2_236188459_236269406 | 236237388 | GGGGCCGG others(43): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 HG01981.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(8): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(23): Show | 27 | 250 | 0.1080 | -50 | c.596 others(65): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | ||||||
| ASCC3_chr6_100503194_100886329 | 100608681 | ATATATTT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 314 | 0.0032 | -50 | c.478 others(69): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
| ASRGL1_chr11_62332448_62398412 | 62355003 | CGCCTCCC others(43): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 370 | 0.0027 | -50 | c.191 others(67): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | chr11 | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(43): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 236 | 0.0042 | -50 | c.364 others(67): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| ATP2C2_chr16_84363538_84469187 | 84395526 | TTGGCTCA others(43): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 432 | 0.0023 | -50 | c.100 others(67): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86145205 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00733.hp1 others(15): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0308a0001c0001t0001g0309a0001c0001t0001g0310others(15): Show | 18 | 360 | 0.0500 | -50 | c.639 others(67): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V1B1_chr2_70930900_70970431 | 70937030 | TGCTCACT others(43): Show |
T | intron_variant | MODIFIER | NA18941.hp1 NA19005.hp2 NA19010.hp1 |
a0001a0002 | a0001c0005a0001c0007a0002c0021 | a0001c0005t0001a0001c0007t0001a0002c0021t0001 | a0001c0005t0001g0107a0001c0007t0001g0195a0002c0021t0001g0407 | 3 | 440 | 0.0068 | -50 | c.118 others(67): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP6V1B1_chr2_70930900_70970431 | 70937072 | AAGCCAGA others(43): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(306): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(30): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(36): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0025others(295): Show | 309 | 440 | 0.7023 | -50 | c.118 others(67): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP6V1E2_chr2_46506847_46547577 | 46546469 | TATATGTG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02965.hp1 HG03453.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0229a0001c0001t0001g0287a0001c0001t0001g0294others(13): Show | 18 | 410 | 0.0439 | -50 | c.-46 others(61): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3893 | chr2 | TogoVar | ||||||
| ATP7A_chrX_77905693_78055395 | 77931742 | CGGACGGG others(43): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 233 | 0.0043 | -50 | c.-22 others(69): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP8B1_chr18_57641426_57808315 | 57732131 | ATATGTAT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02809.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0012a0004c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(3): Show | a0001c0001t0002g0203a0001c0001t0004g0019a0001c0001t0021g0001others(3): Show | 6 | 314 | 0.0191 | -50 | c.-25 others(65): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATXN2L_chr16_28817999_28842232 | 28836555 | TCTGGCTT others(43): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0017 | a0006c0017t0007 | a0006c0017t0007g0091 | 1 | 382 | 0.0026 | -50 | c.*29 others(59): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 22/22 | 291 | chr16 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69876484 | GTATATAT others(43): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0055 | 1 | 76 | 0.0132 | -50 | c.310 others(69): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVL9_chr7_32490489_32593726 | 32579448 | ATATTATA others(43): Show |
A | intron_variant | MODIFIER | HG03688.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014 | a0001c0001t0009g0294a0001c0001t0014g0295 | 2 | 330 | 0.0061 | -50 | c.168 others(67): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(43): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG03041.hp2 HG03471.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0258a0001c0001t0002g0020a0001c0004t0001g0211others(6): Show | 10 | 446 | 0.0224 | -50 | c.287 others(65): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 830862 | TGACTGTG others(43): Show |
T | frameshift_variant | HIGH | HG02027.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0002 | 1 | 391 | 0.0026 | -50 | c.516 others(57): Show |
p.Thr others(5): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4/5 | 526/907 | 516/756 | 172/251 | chr19 | TogoVar | ||
| B3GNTL1_chr17_82937149_83056770 | 83003499 | CACTCTCT others(43): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0011a0001c0014 | a0001c0011t0011a0001c0011t0012a0001c0014t0018 | a0001c0011t0011g0138a0001c0011t0011g0139a0001c0011t0012g0142others(1): Show | 4 | 266 | 0.0150 | -50 | c.459 others(67): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83003786 | CACTCTCT others(43): Show |
C | intron_variant | MODIFIER | HG03453.hp1 HG03486.hp1 |
a0004 | a0004c0017 | a0004c0017t0002 | a0004c0017t0002g0136a0004c0017t0002g0137 | 2 | 266 | 0.0075 | -50 | c.459 others(67): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83034471 | TTGATAAG others(43): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(6): Show | 9 | 266 | 0.0338 | -50 | c.297 others(65): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| BABAM1_chr19_17262443_17284337 | 17277228 | GTCTCCCT others(43): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 424 | 0.0024 | -50 | c.786 others(65): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 8/8 | chr19 | TogoVar | ||||||
| BANP_chr16_87946434_88082316 | 87998562 | ACGCACGT others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(157): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0006others(12): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(23): Show | a0001c0002t0001g0047a0001c0002t0002g0004a0001c0002t0002g0006others(154): Show | 160 | 352 | 0.4546 | -50 | c.363 others(67): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |