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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCF1_chr6_30566442_30596522 | 30595488 | C | CAA | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02896.hp2 HG02922.hp2 others(13): Show |
a0001a0002 | a0001c0002a0002c0007a0002c0013 | a0001c0002t0002a0002c0007t0002a0002c0013t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0230others(8): Show | 16 | 415 | 0.0386 | 2 | c.*47 others(13): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 3967 | chr6 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151221202 | C | CTT | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0006a0001c0008a0001c0013 | a0001c0006t0010a0001c0006t0013a0001c0008t0010others(1): Show | a0001c0006t0010g0073a0001c0006t0013g0030a0001c0006t0013g0031others(3): Show | 9 | 390 | 0.0231 | 2 | c.921 others(17): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 7/14 | chr7 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184197845 | T | TTG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01123.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(12): Show | 54 | 416 | 0.1298 | 2 | c.*41 others(13): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184198067 | G | GTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(167): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(35): Show | 170 | 416 | 0.4087 | 2 | c.*43 others(13): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 4063 | chr3 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184198368 | C | CTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(5): Show | 25 | 416 | 0.0601 | 2 | c.*46 others(13): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 4364 | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42217679 | C | CTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00735.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0124a0001c0001t0002g0115a0001c0001t0003g0100others(3): Show | 7 | 354 | 0.0198 | 2 | c.-15 others(13): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1460 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42229719 | C | CAA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0327a0001c0001t0001g0328a0001c0001t0003g0326others(12): Show | 16 | 354 | 0.0452 | 2 | c.286 others(19): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42241977 | C | CAA | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0155a0001c0001t0002g0120a0001c0001t0002g0137others(7): Show | 10 | 354 | 0.0283 | 2 | c.286 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42243445 | C | CGT | intron_variant | MODIFIER | HG02055.hp2 HG02056.hp1 HG02258.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0248a0001c0001t0001g0335a0001c0001t0002g0222others(5): Show | 8 | 354 | 0.0226 | 2 | c.286 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42243447 | C | CGT | intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 HG02165.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0157others(5): Show | 8 | 354 | 0.0226 | 2 | c.286 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42243451 | T | TGC | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0076a0001c0001t0001g0336a0001c0001t0012g0315 | 3 | 354 | 0.0085 | 2 | c.286 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42243814 | C | CTT | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02055.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0091a0001c0001t0001g0142a0001c0001t0001g0215others(15): Show | 18 | 354 | 0.0509 | 2 | c.286 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42248902 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0083a0001c0001t0001g0091a0001c0001t0001g0133others(81): Show | 87 | 354 | 0.2458 | 2 | c.287 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42268362 | G | GGT | intron_variant | MODIFIER | HG01975.hp1 NA18943.hp1 NA18955.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0159a0001c0001t0001g0200a0001c0001t0003g0106others(3): Show | 6 | 354 | 0.0170 | 2 | c.287 others(19): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42274475 | C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(101): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0089a0001c0001t0001g0091a0001c0001t0001g0096others(99): Show | 104 | 354 | 0.2938 | 2 | c.537 others(19): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42283837 | T | TAC | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0004a0001c0001t0012a0001c0001t0014others(3): Show | a0001c0001t0004g0272a0001c0001t0004g0281a0001c0001t0004g0319others(5): Show | 8 | 354 | 0.0226 | 2 | c.735 others(17): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42283899 | C | CCT | intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0327a0001c0001t0001g0338a0001c0001t0002g0095others(4): Show | 7 | 354 | 0.0198 | 2 | c.735 others(17): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42284079 | T | TAC | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0219a0001c0001t0002g0222a0001c0001t0003g0234others(2): Show | 5 | 354 | 0.0141 | 2 | c.735 others(17): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42296624 | G | GTT | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(71): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0013others(7): Show | a0001c0001t0003g0002a0001c0001t0003g0068a0001c0001t0003g0069others(69): Show | 74 | 354 | 0.2090 | 2 | c.*24 others(11): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 15/15 | 246 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ABCG2_chr4_88085269_88163639 | 88087883 | G | GAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp1 others(53): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(5): Show | a0001c0001t0001g0163a0001c0001t0001g0166a0001c0001t0001g0211others(50): Show | 56 | 350 | 0.1600 | 2 | c.*43 others(13): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2385 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88090030 | T | TCG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0146 | 3 | 350 | 0.0086 | 2 | c.*22 others(13): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 238 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88098599 | A | AGT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0093a0001c0001t0001g0103others(8): Show | 11 | 350 | 0.0314 | 2 | c.149 others(19): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88098610 | G | GTA | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01071.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0075a0001c0001t0001g0083others(60): Show | 63 | 350 | 0.1800 | 2 | c.149 others(19): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88102595 | C | CAA | intron_variant | MODIFIER | HG01981.hp2 HG02486.hp1 NA18965.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0119a0001c0001t0001g0204a0001c0001t0004g0339others(3): Show | 6 | 350 | 0.0171 | 2 | c.127 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 10/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88108359 | T | TAA | intron_variant | MODIFIER | HG04184.hp1 NA18947.hp2 NA18955.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0179a0001c0001t0001g0209a0001c0001t0001g0210others(6): Show | 9 | 350 | 0.0257 | 2 | c.119 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 9/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88115284 | A | ATT | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01255.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0058a0001c0001t0001g0172others(21): Show | 24 | 350 | 0.0686 | 2 | c.842 others(17): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88122343 | G | GTT | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(15): Show | 18 | 350 | 0.0514 | 2 | c.532 others(17): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88144449 | C | CTT | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp2 HG01192.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136others(15): Show | 18 | 350 | 0.0514 | 2 | c.-19 others(19): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88156370 | C | CAA | intron_variant | MODIFIER | HG00639.hp1 HG01943.hp1 HG02273.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0003c0003t0001 | a0001c0001t0001g0177a0001c0001t0001g0179a0001c0001t0005g0181others(3): Show | 6 | 350 | 0.0171 | 2 | c.-20 others(19): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88160848 | C | CAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007a0001c0001t0001g0155a0001c0001t0001g0156others(8): Show | 11 | 350 | 0.0314 | 2 | c.-24 others(13): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2210 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147518 | A | AAG | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01256.hp2 HG01257.hp2 others(24): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0037a0001c0001t0002g0087a0001c0001t0003g0003others(7): Show | 27 | 388 | 0.0696 | 2 | c.-18 others(13): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1533 | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43808964 | T | TAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00673.hp1 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0016a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0016t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0015others(23): Show | 28 | 330 | 0.0849 | 2 | c.*41 others(13): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3507 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43813709 | G | GTT | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00733.hp2 others(38): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(4): Show | a0001c0001t0001g0165a0002c0002t0002g0005a0002c0002t0002g0009others(32): Show | 41 | 330 | 0.1242 | 2 | c.176 others(19): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43815910 | G | GAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(111): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0009others(7): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0003g0010a0001c0001t0003g0022a0001c0001t0003g0059others(98): Show | 114 | 330 | 0.3455 | 2 | c.165 others(21): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43822477 | G | GCC | intron_variant | MODIFIER | HG02886.hp2 HG03139.hp1 HG03209.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0117a0001c0001t0003g0059a0001c0001t0003g0245others(4): Show | 7 | 330 | 0.0212 | 2 | c.146 others(19): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43827325 | C | CAA | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01943.hp2 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0009others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0009t0002others(5): Show | a0001c0001t0001g0042a0001c0001t0001g0068a0002c0002t0002g0142others(18): Show | 22 | 330 | 0.0667 | 2 | c.634 others(17): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43837033 | A | ACG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(134): Show |
a0001a0002a0012 | a0001c0001a0001c0010a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(100): Show | 137 | 330 | 0.4152 | 2 | c.265 others(17): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43839403 | C | CTT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01071.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | 330 | 0.0242 | 2 | c.-72 others(11): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43837033 | A | ACG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(130): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0008a0003c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(47): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(121): Show | 133 | 318 | 0.4182 | 2 | c.-20 others(13): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1937 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43839403 | C | CTT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(5): Show |
a0003a0005 | a0003c0002a0003c0014a0005c0006 | a0003c0002t0002a0003c0002t0003a0003c0002t0110others(3): Show | a0003c0002t0002g0284a0003c0002t0002g0287a0003c0002t0002g0290others(5): Show | 8 | 318 | 0.0252 | 2 | c.63+ others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43845094 | G | GTA | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
a0009a0011 | a0009c0012a0011c0031 | a0009c0012t0025a0009c0012t0078a0011c0031t0049 | a0009c0012t0025g0028a0009c0012t0025g0029a0009c0012t0078g0024others(1): Show | 4 | 318 | 0.0126 | 2 | c.165 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43845096 | G | GTA | intron_variant | MODIFIER | HG00558.hp2 HG02486.hp2 NA18939.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0037others(1): Show | a0001c0001t0005g0002a0001c0001t0005g0054a0001c0001t0005g0123others(3): Show | 8 | 318 | 0.0252 | 2 | c.165 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43845098 | G | GTA | intron_variant | MODIFIER | HG01433.hp2 HG02647.hp2 HG03130.hp1 others(6): Show |
a0003a0008 | a0003c0002a0003c0011a0008c0015others(1): Show | a0003c0002t0028a0003c0011t0012a0003c0011t0100others(2): Show | a0003c0002t0028g0041a0003c0002t0028g0164a0003c0011t0012g0001others(4): Show | 9 | 318 | 0.0283 | 2 | c.165 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43846980 | A | ACG | intron_variant | MODIFIER | HG01192.hp1 HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0010 | a0003c0010t0023 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039 | 3 | 318 | 0.0094 | 2 | c.322 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43846990 | G | GCA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(59): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0008a0003c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0082others(55): Show | 62 | 318 | 0.1950 | 2 | c.322 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43854626 | C | CAA | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01981.hp1 others(6): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0002others(2): Show | a0001c0001t0004a0001c0008t0079a0003c0002t0029others(4): Show | a0001c0001t0004g0092a0001c0008t0079g0073a0003c0002t0029g0150others(5): Show | 9 | 318 | 0.0283 | 2 | c.964 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43862546 | T | TCC | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 2 | c.965 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43873189 | A | ATT | intron_variant | MODIFIER | HG01256.hp1 HG01433.hp1 HG01496.hp2 others(13): Show |
a0002a0003a0017 | a0002c0003a0002c0004a0003c0002others(2): Show | a0002c0003t0003a0002c0003t0006a0002c0003t0119others(6): Show | a0002c0003t0003g0222a0002c0003t0003g0223a0002c0003t0006g0229others(12): Show | 16 | 318 | 0.0503 | 2 | c.121 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43874510 | G | GCC | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(93): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(87): Show | 96 | 318 | 0.3019 | 2 | c.148 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43880173 | G | GTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0005a0001c0001t0036a0001c0001t0074others(9): Show | a0001c0001t0005g0002a0001c0001t0005g0054a0001c0001t0005g0075others(22): Show | 27 | 318 | 0.0849 | 2 | c.*22 others(13): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2265 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |