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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPK2_chr18_58476247_58634091 | 58484752 | T | TATA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(131): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0006a0001c0016others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(37): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(131): Show | 134 | 320 | 0.4188 | 3 | c.629 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58520428 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(125): Show |
a0002a0004a0005others(30): Show | a0002c0002a0002c0014a0002c0079others(41): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(70): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(125): Show | 128 | 320 | 0.4000 | 3 | c.566 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTCT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01243.hp2 others(29): Show |
a0005a0006a0007others(7): Show | a0005c0005a0005c0085a0005c0087others(11): Show | a0005c0005t0001a0005c0005t0002a0005c0005t0004others(19): Show | a0005c0005t0001g0124a0005c0005t0001g0201a0005c0005t0001g0308others(29): Show | 32 | 320 | 0.1000 | 3 | c.566 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTTT | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01081.hp1 others(5): Show |
a0014a0021a0023others(4): Show | a0014c0011a0021c0073a0023c0026others(4): Show | a0014c0011t0003a0021c0073t0001a0023c0026t0003others(5): Show | a0014c0011t0003g0259a0021c0073t0001g0168a0023c0026t0003g0123others(5): Show | 8 | 320 | 0.0250 | 3 | c.566 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58524951 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG02056.hp1 HG02886.hp2 others(11): Show |
a0008a0009a0034 | a0008c0027a0008c0035a0008c0041others(2): Show | a0008c0027t0002a0008c0027t0010a0008c0035t0008others(7): Show | a0008c0027t0002g0022a0008c0027t0002g0074a0008c0027t0010g0104others(11): Show | 14 | 320 | 0.0438 | 3 | c.550 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58525967 | G | GAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01243.hp2 others(56): Show |
a0002a0004a0005others(17): Show | a0002c0002a0002c0079a0004c0004others(26): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(42): Show | a0002c0002t0001g0147a0002c0002t0001g0219a0002c0002t0002g0002others(56): Show | 59 | 320 | 0.1844 | 3 | c.550 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58531648 | G | GAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(104): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0006a0001c0016others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(104): Show | 107 | 320 | 0.3344 | 3 | c.535 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58531935 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(65): Show |
a0002a0004a0011others(21): Show | a0002c0002a0002c0014a0004c0004others(25): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(44): Show | a0002c0002t0001g0185a0002c0002t0001g0232a0002c0002t0001g0246others(65): Show | 68 | 320 | 0.2125 | 3 | c.535 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58545698 | A | ACTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(56): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0016a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0122a0001c0001t0001g0164a0001c0001t0001g0176others(56): Show | 59 | 320 | 0.1844 | 3 | c.196 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58551110 | G | GAAA | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02970.hp1 others(7): Show |
a0003a0008a0011others(2): Show | a0003c0003a0003c0071a0008c0035others(3): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(6): Show | a0003c0003t0001g0268a0003c0003t0003g0267a0003c0003t0004g0262others(7): Show | 10 | 320 | 0.0313 | 3 | c.196 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58573613 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0016a0002c0002others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(128): Show | 131 | 320 | 0.4094 | 3 | c.196 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58593563 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG02258.hp2 HG02615.hp1 others(3): Show |
a0021a0022a0053others(1): Show | a0021c0033a0022c0022a0053c0074others(1): Show | a0021c0033t0008a0022c0022t0004a0053c0074t0001others(1): Show | a0021c0033t0008g0160a0022c0022t0004g0138a0022c0022t0004g0145others(3): Show | 6 | 320 | 0.0188 | 3 | c.228 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58600027 | C | CTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01256.hp1 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0016a0002c0002others(9): Show | a0001c0001t0006a0001c0016t0001a0001c0016t0006others(11): Show | a0001c0001t0006g0029a0001c0016t0001g0303a0001c0016t0006g0052others(12): Show | 15 | 320 | 0.0469 | 3 | c.227 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58614677 | G | GCCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(22): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0016a0002c0002others(6): Show | a0001c0001t0002a0001c0016t0001a0002c0002t0001others(14): Show | a0001c0001t0002g0055a0001c0016t0001g0288a0002c0002t0001g0126others(22): Show | 25 | 320 | 0.0781 | 3 | c.-20 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58622022 | T | TAAA | intron_variant | MODIFIER | HG00621.hp2 HG01192.hp2 HG02040.hp2 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0016a0002c0079others(7): Show | a0001c0001t0001a0001c0016t0006a0002c0079t0001others(8): Show | a0001c0001t0001g0237a0001c0016t0006g0052a0002c0079t0001g0220others(9): Show | 12 | 320 | 0.0375 | 3 | c.-21 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84812839 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(144): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0019others(134): Show | 147 | 340 | 0.4324 | 3 | c.-46 others(14): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4516 | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84838600 | C | CATT | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01109.hp1 others(20): Show |
a0001a0002a0007others(3): Show | a0001c0004a0001c0041a0001c0044others(7): Show | a0001c0004t0005a0001c0004t0006a0001c0004t0011others(12): Show | a0001c0004t0005g0186a0001c0004t0006g0073a0001c0004t0006g0074others(17): Show | 23 | 340 | 0.0677 | 3 | c.305 others(18): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21513059 | C | CTAT | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01255.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0003t0005others(1): Show | a0001c0001t0002g0257a0001c0001t0003g0246a0001c0003t0005g0252others(7): Show | 10 | 370 | 0.0270 | 3 | c.-10 others(22): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21515870 | T | TTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(341): Show | 345 | 370 | 0.9324 | 3 | c.-10 others(22): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21530777 | A | ATTT | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01884.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0133a0001c0001t0003g0146a0001c0001t0004g0128others(5): Show | 8 | 370 | 0.0216 | 3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21533935 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(60): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0073a0001c0001t0002g0197a0001c0001t0002g0220others(60): Show | 63 | 370 | 0.1703 | 3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21551719 | G | GTTT | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00597.hp2 others(39): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0014others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0003g0067a0001c0001t0003g0075a0001c0001t0003g0096others(39): Show | 42 | 370 | 0.1135 | 3 | c.-10 others(22): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21576246 | G | GGAT | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0279a0002c0002t0010g0282a0002c0002t0010g0283 | 3 | 370 | 0.0081 | 3 | c.119 others(20): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21579422 | G | GAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0019others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0222a0001c0001t0002g0271a0001c0001t0003g0002others(64): Show | 68 | 370 | 0.1838 | 3 | c.*17 others(14): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1013 | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21582691 | A | ATTT | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022a0001c0001t0004g0142a0001c0001t0004g0143others(2): Show | 5 | 370 | 0.0135 | 3 | c.*50 others(14): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4282 | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232377286 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(74): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0006a0002c0009others(9): Show | a0001c0001t0001a0002c0006t0001a0002c0009t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0002c0006t0001g0001others(13): Show | 77 | 410 | 0.1878 | 3 | c.-15 others(14): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 1464 | chr2 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GGAA | downstream_gene_variant | MODIFIER | HG00280.hp1 NA18945.hp2 NA18965.hp2 others(2): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0004a0002c0005t0001g0005a0002c0005t0001g0009 | 5 | 410 | 0.0122 | 3 | c.*32 others(14): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | ||||||
ALS2CL_chr3_46663995_46698679 | 46678000 | C | CAAA | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG03130.hp2 others(3): Show |
a0002a0004 | a0002c0011a0004c0016a0004c0036 | a0002c0011t0017a0002c0011t0018a0004c0016t0015others(1): Show | a0002c0011t0017g0045a0002c0011t0018g0209a0004c0016t0015g0044others(1): Show | 6 | 390 | 0.0154 | 3 | c.175 others(20): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 16/25 | chr3 | TogoVar | ||||||
ALS2CL_chr3_46663995_46698679 | 46684407 | C | CACT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(251): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0003others(55): Show | a0001c0001t0004g0052a0001c0002t0001g0007a0001c0002t0001g0061others(134): Show | 254 | 390 | 0.6513 | 3 | c.787 others(18): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 7/25 | chr3 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201716542 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp2 HG02080.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0003t0001g0042a0001c0003t0002g0161a0001c0003t0002g0162others(8): Show | 11 | 354 | 0.0311 | 3 | c.383 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 24/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201720539 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00741.hp1 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004 | a0001c0003t0002g0087a0001c0003t0002g0161a0001c0003t0002g0172others(10): Show | 13 | 354 | 0.0367 | 3 | c.370 others(22): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201772278 | T | TAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(19): Show | a0001c0001t0001g0080a0001c0001t0001g0083a0001c0001t0001g0149others(176): Show | 186 | 354 | 0.5254 | 3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110062645 | G | GTGT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(73): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0003c0009t0002 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(17): Show | 76 | 422 | 0.1801 | 3 | c.595 others(20): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110066572 | T | TCCC | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00639.hp2 others(84): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(33): Show | 87 | 422 | 0.2062 | 3 | c.278 others(20): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(123): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0108others(53): Show | 126 | 438 | 0.2877 | 3 | c.740 others(20): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114060315 | A | ACTC | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0181 | 3 | 454 | 0.0066 | 3 | c.102 others(18): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114063048 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(104): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0011others(63): Show | 107 | 454 | 0.2357 | 3 | c.604 others(18): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | G | GTTT | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02622.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0001c0001t0009a0002c0011t0001 | a0001c0001t0001g0044a0001c0001t0001g0062a0001c0001t0001g0095others(7): Show | 10 | 160 | 0.0625 | 3 | c.340 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46401260 | A | AGAC | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp1 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(74): Show | 77 | 160 | 0.4813 | 3 | c.340 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46516423 | C | CTTT | intron_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0072others(3): Show | 6 | 160 | 0.0375 | 3 | c.207 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46551348 | T | TATC | intron_variant | MODIFIER | HG02258.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0147a0001c0002t0002g0150 | 2 | 160 | 0.0125 | 3 | c.-12 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAAA | intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(5): Show | 8 | 160 | 0.0500 | 3 | c.-12 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46569438 | A | ATAT | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0061a0001c0001t0001g0071others(1): Show | 4 | 160 | 0.0250 | 3 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110885418 | T | TTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(110): Show | 295 | 394 | 0.7487 | 3 | c.111 others(20): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AMD1_chr6_110869785_110900713 | 110898196 | A | AGAT | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0104a0001c0001t0002g0105 | 3 | 394 | 0.0076 | 3 | c.*45 others(14): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 2484 | chr6 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95969741 | C | CTTT | downstream_gene_variant | MODIFIER | HG03688.hp2 HG03831.hp2 HG04115.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0128a0001c0001t0001g0131others(7): Show | 10 | 404 | 0.0248 | 3 | c.*18 others(14): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1022 | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TGTG | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02155.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0019others(1): Show | 4 | 318 | 0.0126 | 3 | c.-27 others(14): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | ||||||
AMELX_chrX_11288413_11305761 | 11304777 | C | CTTT | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02004.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0013others(3): Show | 6 | 300 | 0.0200 | 3 | c.*41 others(14): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 4017 | chrX | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6871960 | A | AAAC | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 131 | 0.0076 | 3 | c.54+ others(16): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 3/6 | chrY | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6888867 | C | CAAA | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 131 | 0.0076 | 3 | c.-11 others(24): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar |