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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC2_chr10_99777640_99857594 | 99814466 | C | CAAACATA others(11): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18968.hp2 NA19060.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0237a0001c0001t0001g0283a0001c0001t0001g0286others(2): Show | 5 | 336 | 0.0149 | 18 | c.209 others(37): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673978 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 342 | 0.0029 | 18 | c.259 others(35): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673980 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0237 | 1 | 342 | 0.0029 | 18 | c.259 others(35): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673986 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 342 | 0.0029 | 18 | c.259 others(35): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673990 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261a0001c0001t0001g0340 | 2 | 342 | 0.0059 | 18 | c.259 others(35): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50692735 | G | GCTGGGAC others(11): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 342 | 0.0029 | 18 | c.*15 others(29): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 483 | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95064258 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0212 | 1 | 248 | 0.0040 | 18 | c.321 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95064260 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0229 | 1 | 248 | 0.0040 | 18 | c.321 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95064297 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0014 | a0001c0014t0007 | a0001c0014t0007g0191 | 1 | 248 | 0.0040 | 18 | c.321 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95086087 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02647.hp1 HG02896.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(3): Show | a0001c0001t0002g0203a0001c0002t0002g0125a0001c0003t0002g0023others(4): Show | 7 | 248 | 0.0282 | 18 | c.253 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 20/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95126720 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 248 | 0.0040 | 18 | c.245 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95157088 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02965.hp2 NA19060.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0066others(1): Show | a0001c0002t0002a0001c0003t0001a0001c0066t0003others(1): Show | a0001c0002t0002g0125a0001c0003t0001g0036a0001c0066t0003g0035others(1): Show | 4 | 248 | 0.0161 | 18 | c.245 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95159093 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG04199.hp1 NA19056.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0083a0004c0006t0001g0005 | 2 | 248 | 0.0081 | 18 | c.245 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244597 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 NA18522.hp2 others(3): Show |
a0001a0002 | a0001c0009a0002c0004a0002c0005others(2): Show | a0001c0009t0001a0002c0004t0002a0002c0004t0003others(3): Show | a0001c0009t0001g0047a0002c0004t0002g0051a0002c0004t0003g0056others(3): Show | 6 | 248 | 0.0242 | 18 | c.306 others(35): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95247918 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01069.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0126a0001c0001t0001g0171a0001c0001t0001g0173others(21): Show | 24 | 248 | 0.0968 | 18 | c.75- others(31): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95286123 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0232 | 1 | 248 | 0.0040 | 18 | c.74+ others(35): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95302342 | A | AGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 248 | 0.0040 | 18 | c.-10 others(29): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 892 | chr13 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16149370 | A | AAAATACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 357 | 0.0028 | 18 | c.*76 others(27): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 194 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17467042 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01168.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0282a0001c0003t0001g0323 | 2 | 330 | 0.0061 | 18 | c.412 others(35): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(4): Show | 7 | 212 | 0.0330 | 18 | c.816 others(33): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 212 | 0.0047 | 18 | c.816 others(33): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 416 | 0.0024 | 18 | c.156 others(35): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42219222 | C | CCCGCCGC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG02559.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0031 | a0001c0001t0030g0312a0001c0001t0031g0077 | 2 | 354 | 0.0057 | 18 | c.-26 others(24): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1/15 | 8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ABCG1_chr21_42214140_42302244 | 42293603 | T | TACACACC others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0079a0001c0001t0004g0269a0001c0001t0007g0019 | 3 | 354 | 0.0085 | 18 | c.165 others(35): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0001g0137 | 3 | 350 | 0.0086 | 18 | c.842 others(33): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147518 | A | AAAGAAAG others(11): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | 18 | c.-18 others(29): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1533 | chr11 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 HG02074.hp1 HG02135.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0034a0001c0001t0062a0002c0003t0006 | a0001c0001t0034g0074a0001c0001t0034g0088a0001c0001t0062g0010others(1): Show | 4 | 318 | 0.0126 | 18 | c.*92 others(29): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870941 | A | AAGAAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0037 | 1 | 376 | 0.0027 | 18 | c.-12 others(29): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1111 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870961 | A | AAGAAAGA others(11): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0036 | 1 | 376 | 0.0027 | 18 | c.-12 others(29): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1091 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAGGAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0245 | 1 | 376 | 0.0027 | 18 | c.-11 others(29): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50872672 | A | AATCTTGG others(11): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 376 | 0.0027 | 18 | c.104 others(33): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0025a0002c0002t0005g0024 | 2 | 376 | 0.0053 | 18 | c.486 others(33): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25315821 | G | GTGTGCCC others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0275a0001c0003t0002g0283 | 2 | 316 | 0.0063 | 18 | c.574 others(33): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 5/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA20129.hp2 NA20805.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0161a0001c0002t0002g0167 | 2 | 316 | 0.0063 | 18 | c.422 others(33): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71894087 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 186 | 0.0054 | 18 | c.-4+ others(35): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 360 | 0.0028 | 18 | c.590 others(35): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0176a0001c0001t0001g0178a0001c0001t0001g0190others(29): Show | 32 | 360 | 0.0889 | 18 | c.590 others(35): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094a0001c0001t0004g0097 | 2 | 360 | 0.0056 | 18 | c.591 others(37): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039093 | T | TGTATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(63): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(17): Show | a0002c0002t0001g0270a0002c0002t0001g0272a0002c0002t0001g0276others(63): Show | 66 | 344 | 0.1919 | 18 | c.*32 others(29): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3313 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150 | 1 | 234 | 0.0043 | 18 | c.194 others(37): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG03491.hp1 HG03492.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0181others(2): Show | 5 | 234 | 0.0214 | 18 | c.*97 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205168 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 234 | 0.0043 | 18 | c.*97 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2814 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21667234 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 304 | 0.0033 | 18 | c.556 others(35): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21693535 | C | CTCTGATA others(11): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 304 | 0.0033 | 18 | c.509 others(35): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0166a0001c0001t0005g0167a0001c0001t0005g0218others(3): Show | 6 | 302 | 0.0199 | 18 | c.523 others(33): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GCATATAT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01192.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0012 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0013others(39): Show | 44 | 302 | 0.1457 | 18 | c.837 others(35): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03492.hp2 NA19240.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0007g0224 | 3 | 302 | 0.0099 | 18 | c.837 others(35): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286850 | G | GCATATAT others(11): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 302 | 0.0033 | 18 | c.837 others(35): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286850 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0228a0001c0001t0003g0025a0001c0001t0003g0026others(3): Show | 6 | 302 | 0.0199 | 18 | c.837 others(35): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286852 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0291 | 1 | 302 | 0.0033 | 18 | c.837 others(35): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |