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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42707955 | C | CAA | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01358.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0007a0001c0002t0003others(3): Show | a0001c0001t0002g0113a0001c0001t0002g0135a0001c0001t0002g0139others(12): Show | 15 | 406 | 0.0370 | 2 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42709048 | A | AAT | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0007a0002c0003a0002c0008 | a0001c0007t0004a0002c0003t0001a0002c0003t0017others(1): Show | a0001c0007t0004g0265a0002c0003t0001g0269a0002c0003t0001g0283others(5): Show | 8 | 406 | 0.0197 | 2 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42709343 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(15): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(109): Show | 114 | 406 | 0.2808 | 2 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01074.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(4): Show | a0001c0001t0002g0184a0001c0001t0002g0185a0001c0001t0002g0186others(17): Show | 20 | 406 | 0.0493 | 2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722157 | C | CAA | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01891.hp1 HG02027.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0018a0001c0002t0011a0001c0002t0023others(2): Show | a0001c0001t0018g0390a0001c0002t0011g0006a0001c0002t0011g0279others(9): Show | 12 | 406 | 0.0296 | 2 | c.-15 others(13): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | ATT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01167.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(2): Show | a0001c0001t0002g0305a0001c0001t0004g0334a0001c0001t0004g0383others(9): Show | 12 | 406 | 0.0296 | 2 | c.-16 others(13): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42724719 | C | CTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(176): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0022others(16): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(171): Show | 179 | 406 | 0.4409 | 2 | c.-41 others(13): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3850 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42725198 | A | ATT | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01192.hp1 HG02135.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0087a0001c0001t0002g0130a0001c0001t0002g0144others(7): Show | 10 | 406 | 0.0246 | 2 | c.-45 others(13): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 4329 | chr22 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138121856 | A | AGG | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02486.hp1 HG02622.hp1 others(8): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0006 | a0002c0002t0003a0002c0004t0001a0003c0006t0001 | a0002c0002t0003g0013a0002c0002t0003g0025a0002c0002t0003g0048others(3): Show | 11 | 398 | 0.0276 | 2 | c.*24 others(13): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 1856 | chr3 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53312829 | C | CAT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004 | a0001c0002t0001a0001c0005t0001a0002c0004t0001others(1): Show | a0001c0002t0001g0174a0001c0005t0001g0176a0001c0005t0001g0177others(7): Show | 12 | 330 | 0.0364 | 2 | c.689 others(19): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062916 | C | CGT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0050others(38): Show | 41 | 364 | 0.1126 | 2 | c.-26 others(13): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064480 | C | CAA | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01175.hp1 HG01943.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0282others(6): Show | 9 | 364 | 0.0247 | 2 | c.-11 others(13): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 954 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064643 | C | CAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01175.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0239a0001c0001t0002g0230a0001c0001t0006g0336others(4): Show | 7 | 364 | 0.0192 | 2 | c.-94 others(11): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 791 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066450 | A | ATT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(85): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(83): Show | 88 | 364 | 0.2418 | 2 | c.133 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125072157 | C | CTT | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01168.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0085others(9): Show | 12 | 364 | 0.0330 | 2 | c.134 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125074660 | G | GTT | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01243.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0014others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(2): Show | a0001c0001t0001g0097a0001c0001t0001g0277a0001c0001t0001g0278others(6): Show | 9 | 364 | 0.0247 | 2 | c.237 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125074975 | G | GTT | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0002g0101others(3): Show | 6 | 364 | 0.0165 | 2 | c.237 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125078820 | C | CAA | intron_variant | MODIFIER | HG00621.hp2 HG01433.hp2 HG01891.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0001g0162a0001c0001t0005g0048a0002c0002t0001g0114others(12): Show | 15 | 364 | 0.0412 | 2 | c.358 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125080470 | G | GTC | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(80): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0002c0005others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(78): Show | 83 | 364 | 0.2280 | 2 | c.358 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125080641 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 2 | c.358 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125082832 | G | GAC | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0001c0001t0005a0002c0025t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0005g0103others(2): Show | 5 | 364 | 0.0137 | 2 | c.359 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125101762 | C | CTT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00738.hp2 others(31): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0062a0001c0001t0001g0077a0001c0001t0001g0196others(31): Show | 34 | 364 | 0.0934 | 2 | c.571 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTA | intron_variant | MODIFIER | HG01515.hp2 HG01928.hp2 HG01978.hp1 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0077a0001c0001t0001g0079a0001c0001t0001g0340others(14): Show | 17 | 364 | 0.0467 | 2 | c.571 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102079 | A | AAC | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(11): Show | 14 | 364 | 0.0385 | 2 | c.571 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103457 | G | GCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(181): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(178): Show | 184 | 364 | 0.5055 | 2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0030a0001c0001t0001g0062a0001c0001t0001g0067others(41): Show | 44 | 364 | 0.1209 | 2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125122642 | C | CAA | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0091a0001c0001t0001g0093others(14): Show | 17 | 364 | 0.0467 | 2 | c.112 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125132240 | C | CAG | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01361.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002others(3): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0079a0001c0001t0001g0097others(20): Show | 23 | 364 | 0.0632 | 2 | c.155 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 14/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125147103 | C | CAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02015.hp2 others(33): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0305a0001c0001t0001g0343a0001c0001t0003g0041others(33): Show | 36 | 364 | 0.0989 | 2 | c.*48 others(13): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3788 | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151732419 | G | GTA | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0063 | a0001c0001t0035g0049a0001c0001t0063g0058 | 3 | 428 | 0.0070 | 2 | c.-16 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1507 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151746905 | G | GTT | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0138a0001c0001t0003g0036a0001c0001t0006g0016others(14): Show | 22 | 428 | 0.0514 | 2 | c.603 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151747618 | T | TTG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0028others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(38): Show | 100 | 428 | 0.2336 | 2 | c.603 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151749275 | T | TTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(222): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(108): Show | 225 | 428 | 0.5257 | 2 | c.603 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761204 | G | GAT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(51): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0004a0001c0001t0007a0001c0001t0016others(5): Show | a0001c0001t0004g0005a0001c0001t0004g0124a0001c0001t0007g0002others(25): Show | 54 | 428 | 0.1262 | 2 | c.*36 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3649 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL2_chr3_151728927_151766339 | 151762094 | C | CAT | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 2 | c.*45 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 756 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151764616 | C | CAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01169.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0020a0001c0001t0022others(3): Show | a0001c0001t0016g0011a0001c0001t0016g0100a0001c0001t0016g0101others(6): Show | 12 | 428 | 0.0280 | 2 | c.*70 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3278 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151765335 | C | CAA | downstream_gene_variant | MODIFIER | HG01346.hp2 HG01952.hp1 HG01981.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0024a0002c0002t0038others(1): Show | a0002c0002t0005g0004a0002c0002t0005g0082a0002c0002t0024g0004others(3): Show | 6 | 428 | 0.0140 | 2 | c.*77 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3997 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151765683 | C | CAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01168.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0016a0001c0001t0022a0001c0001t0023others(5): Show | a0001c0001t0016g0011a0001c0001t0016g0092a0001c0001t0016g0100others(12): Show | 17 | 428 | 0.0397 | 2 | c.*80 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4345 | chr3 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12641692 | G | GTT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01169.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0002g0043others(6): Show | 9 | 310 | 0.0290 | 2 | c.-28 others(13): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2392 | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658087 | T | TTC | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0128a0001c0001t0001g0230a0001c0001t0002g0042others(1): Show | 4 | 310 | 0.0129 | 2 | c.386 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658166 | T | TTC | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01175.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0192a0001c0001t0001g0225a0001c0001t0001g0230others(20): Show | 23 | 310 | 0.0742 | 2 | c.386 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151829429 | T | TCA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(26): Show | 80 | 440 | 0.1818 | 2 | c.*12 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 942 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151831381 | T | TTA | downstream_gene_variant | MODIFIER | HG02109.hp2 NA20129.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105a0001c0001t0002g0012a0001c0001t0002g0043 | 3 | 440 | 0.0068 | 2 | c.*32 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2894 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TAC | downstream_gene_variant | MODIFIER | HG03710.hp1 NA18944.hp1 NA18974.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0006a0001c0001t0002g0117a0002c0002t0001g0001others(2): Show | 12 | 440 | 0.0273 | 2 | c.*32 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170068557 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01070.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0045a0001c0001t0001g0194others(3): Show | 11 | 378 | 0.0291 | 2 | c.900 others(15): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170072299 | G | GTA | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00733.hp2 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0015others(57): Show | 100 | 378 | 0.2646 | 2 | c.654 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170090088 | G | GGC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0021others(22): Show | 38 | 378 | 0.1005 | 2 | c.-40 others(11): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 133 | chr4 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222230 | A | ACG | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01175.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0002 | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0029others(22): Show | 26 | 380 | 0.0684 | 2 | c.535 others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222240 | G | GCA | intron_variant | MODIFIER | NA18979.hp2 NA19043.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0305a0001c0001t0010g0241a0001c0001t0010g0242 | 3 | 380 | 0.0079 | 2 | c.535 others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67232249 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(103): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0007others(1): Show | a0002c0002t0001g0151a0002c0002t0003g0007a0002c0002t0003g0008others(101): Show | 106 | 380 | 0.2790 | 2 | c.452 others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4/9 | chr15 | TogoVar |