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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105662010 | TTTTC | T | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01169.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0181a0001c0001t0001g0214a0001c0001t0002g0042others(32): Show | 35 | 252 | 0.1389 | -4 | c.578 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105692370 | TTTCC | T | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00741.hp1 others(29): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0082a0001c0001t0001g0106a0001c0001t0002g0021others(29): Show | 32 | 252 | 0.1270 | -4 | c.356 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105693534 | CCCAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp1 others(57): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0078a0001c0001t0001g0085a0001c0001t0001g0106others(57): Show | 60 | 252 | 0.2381 | -4 | c.356 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105702545 | AACAC | A | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG03471.hp2 |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0016a0002c0002t0030a0007c0009t0007 | a0001c0001t0016g0069a0002c0002t0030g0212a0007c0009t0007g0096 | 3 | 252 | 0.0119 | -4 | c.356 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105710401 | CTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG01168.hp1 HG01256.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0002g0002others(9): Show | 12 | 252 | 0.0476 | -4 | c.356 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105716665 | GCACA | G | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01081.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0074a0001c0001t0001g0181a0001c0001t0002g0002others(21): Show | 24 | 252 | 0.0952 | -4 | c.356 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105721993 | TGTGA | T | intron_variant | MODIFIER | HG02129.hp1 HG03491.hp2 NA18971.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0033a0001c0001t0002g0002a0001c0001t0004g0039others(2): Show | 5 | 252 | 0.0198 | -4 | c.356 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | TAAAA | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0022others(3): Show | a0001c0001t0001g0205a0001c0001t0001g0222a0001c0001t0008g0075others(4): Show | 7 | 252 | 0.0278 | -4 | c.356 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105729301 | GAATA | G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01167.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0074a0001c0001t0001g0119a0001c0001t0002g0002others(17): Show | 20 | 252 | 0.0794 | -4 | c.355 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105733553 | TCCAC | T | intron_variant | MODIFIER | HG00558.hp2 HG01261.hp2 HG01433.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0080others(39): Show | 42 | 252 | 0.1667 | -4 | c.355 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105733841 | CCCAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0078others(83): Show | 86 | 252 | 0.3413 | -4 | c.355 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105733932 | TCATC | T | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG00735.hp2 others(49): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0074others(49): Show | 52 | 252 | 0.2064 | -4 | c.355 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105759449 | AGTGT | A | intron_variant | MODIFIER | HG01884.hp1 NA18971.hp2 NA18994.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0001g0005a0001c0001t0003g0004a0001c0001t0003g0006others(4): Show | 7 | 252 | 0.0278 | -4 | c.355 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105790606 | TTATC | T | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(49): Show |
a0001a0003a0007 | a0001c0001a0001c0012a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0017a0001c0001t0001g0059a0001c0001t0001g0088others(49): Show | 52 | 252 | 0.2064 | -4 | c.251 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105790674 | ACTAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01891.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0026others(1): Show | a0001c0001t0002g0245a0001c0001t0012g0122a0001c0001t0026g0189others(1): Show | 4 | 252 | 0.0159 | -4 | c.251 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105801225 | CAGTT | C | intron_variant | MODIFIER | NA18948.hp2 NA18950.hp1 NA19074.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0009a0001c0001t0011a0001c0008t0014 | a0001c0001t0009g0141a0001c0001t0011g0164a0001c0001t0011g0170others(1): Show | 4 | 252 | 0.0159 | -4 | c.251 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105860144 | TATAC | T | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0012a0001c0001t0055others(2): Show | a0001c0001t0005g0206a0001c0001t0012g0052a0001c0001t0012g0122others(3): Show | 6 | 252 | 0.0238 | -4 | c.250 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L2_chr1_109478905_109497734 | 109485560 | GTATC | G | intron_variant | MODIFIER | NA18972.hp1 NA18987.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 332 | 0.0090 | -4 | c.128 others(19): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG01496.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0055 | a0001c0001t0001g0000a0001c0001t0007g0000a0001c0001t0055g0000 | 10 | 408 | 0.0245 | -4 | c.-14 others(15): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74537446 | CCAGT | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01070.hp1 others(86): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0002t0005a0001c0002t0008others(26): Show | a0001c0002t0004g0000a0001c0002t0005g0000a0001c0002t0008g0000others(26): Show | 89 | 408 | 0.2181 | -4 | c.-66 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 388 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74539318 | ATGGG | A | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01070.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018a0001c0002t0066others(2): Show | a0001c0002t0005g0000a0001c0002t0018g0000a0001c0002t0066g0000others(2): Show | 20 | 408 | 0.0490 | -4 | c.*91 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 915 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ATXN7L3B_chr12_74532835_74550430 | 74539561 | GCAGT | G | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01070.hp1 others(86): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0002t0005a0001c0002t0008others(26): Show | a0001c0002t0004g0000a0001c0002t0005g0000a0001c0002t0008g0000others(26): Show | 89 | 408 | 0.2181 | -4 | c.*11 others(15): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 1159 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ATXN7L3B_chr12_74532835_74550430 | 74545847 | AAAAG | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0051others(5): Show | a0001c0001t0015g0000a0001c0001t0016g0000a0001c0001t0051g0000others(5): Show | 16 | 408 | 0.0392 | -4 | c.*74 others(15): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 418 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74546208 | CTATA | C | downstream_gene_variant | MODIFIER | HG02015.hp2 NA18747.hp2 NA18967.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0057 | a0001c0001t0015g0000a0001c0001t0057g0000 | 6 | 408 | 0.0147 | -4 | c.*78 others(15): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 779 | chr12 | TogoVar | ||||||
ATXN7L3_chr17_44186805_44204884 | 44195200 | GTTTC | G | intron_variant | MODIFIER | HG02486.hp2 HG03139.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0057a0001c0001t0001g0085a0001c0001t0018g0056 | 3 | 380 | 0.0079 | -4 | c.622 others(17): Show |
ATXN7L3 | ENSG00000087152.16 | transcript | ENST00000587097.6 | protein_coding | 9/12 | chr17 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63879487 | GTTTT | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(47): Show |
a0003a0005a0017others(5): Show | a0003c0004a0005c0005a0005c0026others(7): Show | a0003c0004t0003a0003c0004t0022a0003c0004t0023others(13): Show | a0003c0004t0003g0158a0003c0004t0003g0168a0003c0004t0003g0169others(47): Show | 50 | 300 | 0.1667 | -4 | c.-11 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63884203 | GCACA | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00733.hp2 others(51): Show |
a0001a0002a0006others(11): Show | a0001c0001a0002c0002a0002c0030others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(25): Show | a0001c0001t0001g0021a0001c0001t0001g0036a0001c0001t0001g0038others(50): Show | 54 | 300 | 0.1800 | -4 | c.-11 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63884238 | CACAT | C | intron_variant | MODIFIER | HG00544.hp1 HG02155.hp1 HG02486.hp2 others(9): Show |
a0002a0003a0012 | a0002c0002a0003c0004a0012c0014 | a0002c0002t0042a0002c0002t0043a0003c0004t0003others(5): Show | a0002c0002t0042g0141a0002c0002t0043g0147a0003c0004t0003g0168others(9): Show | 12 | 300 | 0.0400 | -4 | c.-11 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63892374 | CCACA | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(62): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0016others(19): Show | a0001c0001t0005g0213a0001c0001t0005g0215a0001c0001t0005g0234others(61): Show | 65 | 300 | 0.2167 | -4 | c.-11 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63892467 | TCACA | T | intron_variant | MODIFIER | HG01243.hp1 HG03195.hp2 HG03486.hp2 others(3): Show |
a0002a0004a0021 | a0002c0002a0002c0003a0004c0006others(1): Show | a0002c0002t0047a0002c0002t0051a0002c0003t0015others(2): Show | a0002c0002t0047g0013a0002c0002t0051g0015a0002c0003t0015g0261others(3): Show | 6 | 300 | 0.0200 | -4 | c.-11 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63892491 | ACACC | A | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG02486.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0042a0002c0002t0044others(1): Show | a0002c0002t0018g0140a0002c0002t0018g0143a0002c0002t0018g0144others(3): Show | 6 | 300 | 0.0200 | -4 | c.-11 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63903386 | CAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp1 HG02965.hp1 others(4): Show |
a0009a0014 | a0009c0009a0014c0018 | a0009c0009t0020a0009c0009t0049a0009c0009t0067others(2): Show | a0009c0009t0020g0154a0009c0009t0020g0156a0009c0009t0020g0157others(4): Show | 7 | 300 | 0.0233 | -4 | c.-12 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63918176 | AAAAC | A | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp1 HG01255.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0036a0001c0001t0001g0038a0001c0001t0001g0115others(7): Show | 10 | 300 | 0.0333 | -4 | c.394 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63940285 | TCACA | T | intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01175.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0111a0001c0001t0002g0225a0001c0001t0005g0216others(12): Show | 15 | 300 | 0.0500 | -4 | c.395 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63964073 | AACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(110): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0003others(19): Show | a0001c0001t0002a0001c0001t0005a0002c0002t0002others(32): Show | a0001c0001t0002g0225a0001c0001t0005g0216a0001c0001t0005g0234others(110): Show | 113 | 300 | 0.3767 | -4 | c.499 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63964141 | TCAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0002a0001c0001t0007g0039a0001c0001t0019g0002others(1): Show | 4 | 300 | 0.0133 | -4 | c.499 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AUH_chr9_91208823_91366918 | 91249292 | CAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01175.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0069others(7): Show | 11 | 358 | 0.0307 | -4 | c.656 others(23): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91249809 | AGACC | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(54): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(53): Show | 57 | 358 | 0.1592 | -4 | c.656 others(23): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91260400 | CTTCT | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(52): Show | 56 | 358 | 0.1564 | -4 | c.655 others(23): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91265327 | CTTCA | C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01106.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0071a0001c0002t0001g0011a0001c0002t0001g0016others(28): Show | 32 | 358 | 0.0894 | -4 | c.655 others(23): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91266362 | AAAAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(240): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(233): Show | 243 | 358 | 0.6788 | -4 | c.655 others(23): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91281322 | GTTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0067others(23): Show | 27 | 358 | 0.0754 | -4 | c.655 others(23): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91297369 | CACCT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0067others(23): Show | 27 | 358 | 0.0754 | -4 | c.598 others(19): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91297591 | CTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(51): Show | 55 | 358 | 0.1536 | -4 | c.598 others(19): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91336224 | CACAT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0067others(23): Show | 27 | 358 | 0.0754 | -4 | c.419 others(23): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91347212 | TTTTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(177): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0007t0001a0001c0009t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 180 | 358 | 0.5028 | -4 | c.418 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91349627 | TTGTG | T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341a0001c0001t0001g0342a0001c0001t0001g0343others(2): Show | 5 | 358 | 0.0140 | -4 | c.418 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91349679 | GACAC | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(82): Show | 87 | 358 | 0.2430 | -4 | c.418 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91353820 | CAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(45): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0020others(44): Show | 48 | 358 | 0.1341 | -4 | c.418 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25843172 | CAAAA | C | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0212a0001c0001t0006g0213a0001c0001t0006g0214others(2): Show | 6 | 352 | 0.0171 | -4 | c.79- others(19): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar |