| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARSL_chrX_2929521_2969341 | 2957220 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02486.hp1 others(5): Show |
a0002a0003a0004 | a0002c0002a0003c0005a0004c0006 | a0002c0002t0002a0003c0005t0002a0004c0006t0001others(1): Show | a0002c0002t0002g0044a0003c0005t0002g0027a0004c0006t0001g0245others(4): Show | 8 | 328 | 0.0244 | 3 | c.185 others(20): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 3/10 | chrX | TogoVar | ||||||
| ARSL_chrX_2929521_2969341 | 2957708 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01891.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002a0002c0003t0007others(1): Show | a0002c0003t0001g0209a0002c0003t0001g0210a0002c0003t0002g0020others(8): Show | 11 | 328 | 0.0335 | 3 | c.185 others(18): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 3/10 | chrX | TogoVar | ||||||
| ARSL_chrX_2929521_2969341 | 2960268 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01175.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0001c0014others(3): Show | a0001c0001t0001a0001c0009t0001a0001c0014t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0080others(14): Show | 20 | 328 | 0.0610 | 3 | c.23+ others(16): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 2/10 | chrX | TogoVar | ||||||
| ART1_chr11_3640128_3669416 | 3640355 | A | ATGG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(383): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0014a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(316): Show | 386 | 394 | 0.9797 | 3 | c.-48 others(14): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4772 | chr11 | TogoVar | ||||||
| ART1_chr11_3640128_3669416 | 3651449 | A | AAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(326): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0014a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(281): Show | 329 | 394 | 0.8350 | 3 | c.-53 others(20): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART1_chr11_3640128_3669416 | 3661490 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(33): Show | 53 | 394 | 0.1345 | 3 | c.886 others(16): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART1_chr11_3640128_3669416 | 3663081 | C | CTCA | intron_variant | MODIFIER | HG00738.hp2 HG02074.hp1 HG02258.hp1 others(10): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0005c0006t0001 | a0001c0001t0001g0026a0001c0001t0001g0035a0001c0001t0001g0126others(9): Show | 13 | 394 | 0.0330 | 3 | c.887 others(20): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART1_chr11_3640128_3669416 | 3663099 | C | CTCA | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0134a0001c0001t0001g0159a0001c0014t0001g0128 | 3 | 394 | 0.0076 | 3 | c.887 others(18): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART3_chr4_76069709_76117786 | 76076004 | G | GTTT | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp2 HG02055.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0245a0001c0001t0001g0246a0001c0001t0001g0267others(8): Show | 12 | 392 | 0.0306 | 3 | c.69+ others(14): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ART3_chr4_76069709_76117786 | 76079176 | T | TAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(38): Show | 59 | 392 | 0.1505 | 3 | c.70- others(18): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ART3_chr4_76069709_76117786 | 76108362 | T | TATC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(165): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(115): Show | 168 | 392 | 0.4286 | 3 | c.103 others(20): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ART3_chr4_76069709_76117786 | 76114071 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(38): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0016others(30): Show | 41 | 392 | 0.1046 | 3 | c.*15 others(14): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1286 | chr4 | TogoVar | ||||||
| ART4_chr12_14820569_14848526 | 14822314 | A | AACG | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0009 | a0001c0001t0009g0158a0002c0002t0009g0009 | 3 | 380 | 0.0079 | 3 | c.*70 others(14): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 3254 | chr12 | TogoVar | ||||||
| ART4_chr12_14820569_14848526 | 14822317 | G | GACA | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0001a0001c0001t0013a0003c0003t0003others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0041a0001c0001t0013g0040others(5): Show | 13 | 380 | 0.0342 | 3 | c.*70 others(14): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 3251 | chr12 | TogoVar | ||||||
| ART5_chr11_3633512_3646992 | 3640355 | A | ATGG | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(443): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0001c0018others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0024others(100): Show | 446 | 454 | 0.9824 | 3 | c.71_ others(8): Show |
p.Pro others(14): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 2/4 | 203/1232 | 73/876 | 25/291 | chr11 | TogoVar | ||
| ARTN_chr1_43928801_43942240 | 43929303 | A | AATT | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03516.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 394 | 0.0076 | 3 | c.-47 others(14): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 4497 | chr1 | TogoVar | ||||||
| ARTN_chr1_43928801_43942240 | 43929310 | A | ATTT | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG03130.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0005g0009 | 9 | 394 | 0.0228 | 3 | c.-47 others(14): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 4490 | chr1 | TogoVar | ||||||
| ARTN_chr1_43928801_43942240 | 43939320 | A | AAGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(150): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0014others(14): Show | 153 | 394 | 0.3883 | 3 | c.*25 others(14): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 2081 | chr1 | TogoVar | ||||||
| ARTN_chr1_43928801_43942240 | 43941409 | C | CAAA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0003t0001g0005 | 12 | 394 | 0.0305 | 3 | c.*46 others(14): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 4170 | chr1 | TogoVar | ||||||
| ARV1_chr1_230974094_231005733 | 230983412 | C | CAAA | intron_variant | MODIFIER | HG00621.hp1 HG01168.hp2 HG02071.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007a0001c0001t0001g0058a0001c0001t0001g0059others(16): Show | 25 | 402 | 0.0622 | 3 | c.174 others(20): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARV1_chr1_230974094_231005733 | 230985921 | A | ATTT | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01175.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0026others(30): Show | 44 | 402 | 0.1095 | 3 | c.175 others(20): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ARV1_chr1_230974094_231005733 | 231001542 | C | CAAA | downstream_gene_variant | MODIFIER | HG02738.hp2 HG04184.hp1 NA18939.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0154others(8): Show | 11 | 402 | 0.0274 | 3 | c.*14 others(14): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 810 | chr1 | TogoVar | ||||||
| ARVCF_chr22_19964896_20021823 | 19985718 | C | CACA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(151): Show |
a0002a0004a0005others(12): Show | a0002c0002a0002c0032a0002c0040others(20): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0014others(27): Show | a0002c0002t0001g0001a0002c0002t0001g0036a0002c0002t0001g0122others(99): Show | 154 | 374 | 0.4118 | 3 | c.211 others(20): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 3/19 | chr22 | TogoVar | ||||||
| ARX_chrX_24998694_25020965 | 25001239 | T | TGGG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00558.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(18): Show | 36 | 300 | 0.1200 | 3 | c.*34 others(14): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2454 | chrX | TogoVar | ||||||
| ARX_chrX_24998694_25020965 | 25001244 | G | GGGC | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 300 | 0.0033 | 3 | c.*34 others(14): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2449 | chrX | TogoVar | ||||||
| ARX_chrX_24998694_25020965 | 25001249 | G | GGGA | downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 300 | 0.0033 | 3 | c.*34 others(14): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2444 | chrX | TogoVar | ||||||
| ARX_chrX_24998694_25020965 | 25017392 | G | GGTT | upstream_gene_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0031 | 1 | 300 | 0.0033 | 3 | c.-16 others(14): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1428 | chrX | TogoVar | ||||||
| ARX_chrX_24998694_25020965 | 25018900 | C | CCTA | upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 300 | 0.0033 | 3 | c.-31 others(14): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2936 | chrX | TogoVar | ||||||
| ARX_chrX_24998694_25020965 | 25018996 | A | ATTT | upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 300 | 0.0033 | 3 | c.-32 others(14): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 3032 | chrX | TogoVar | ||||||
| AR_chrX_67539021_67735619 | 67545316 | T | TGCA | disruptive_inframe_insertion | MODERATE | HG00741.hp2 HG01169.hp1 HG01515.hp1 others(15): Show |
a0004a0015a0058others(2): Show | a0004c0003a0015c0010a0058c0069others(2): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0008others(9): Show | a0004c0003t0001g0036a0004c0003t0001g0097a0004c0003t0001g0109others(15): Show | 18 | 193 | 0.0933 | 3 | c.237 others(10): Show |
p.Gln others(5): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67546514 | T | TGGC | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00642.hp1 HG00738.hp1 others(30): Show |
a0008a0011a0012others(7): Show | a0008c0005a0011c0008a0012c0011others(10): Show | a0008c0005t0003a0008c0005t0006a0008c0005t0010others(24): Show | a0008c0005t0003g0003a0008c0005t0006g0118a0008c0005t0010g0003others(30): Show | 33 | 193 | 0.1710 | 3 | c.141 others(12): Show |
p.Gly others(6): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AR_chrX_67539021_67735619 | 67551001 | G | GTTT | intron_variant | MODIFIER | HG01169.hp2 HG02896.hp1 |
a0021a0038 | a0021c0020a0038c0038 | a0021c0020t0011a0038c0038t0047 | a0021c0020t0011g0111a0038c0038t0047g0113 | 2 | 193 | 0.0104 | 3 | c.161 others(22): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67561928 | G | GTTT | intron_variant | MODIFIER | HG02809.hp1 | a0025 | a0025c0049 | a0025c0049t0052 | a0025c0049t0052g0009 | 1 | 193 | 0.0052 | 3 | c.161 others(24): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67633748 | T | TTCA | intron_variant | MODIFIER | NA19063.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0051 | 1 | 193 | 0.0052 | 3 | c.161 others(22): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| AR_chrX_67539021_67735619 | 67641860 | G | GTTT | intron_variant | MODIFIER | NA19067.hp1 | a0003 | a0003c0004 | a0003c0004t0017 | a0003c0004t0017g0101 | 1 | 193 | 0.0052 | 3 | c.161 others(22): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67695738 | A | ACAC | intron_variant | MODIFIER | NA19060.hp1 | a0070 | a0070c0085 | a0070c0085t0056 | a0070c0085t0056g0082 | 1 | 193 | 0.0052 | 3 | c.188 others(22): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | chrX | TogoVar | ||||||
| AR_chrX_67539021_67735619 | 67723036 | A | AATG | intron_variant | MODIFIER | HG03710.hp1 | a0015 | a0015c0010 | a0015c0010t0014 | a0015c0010t0014g0006 | 1 | 193 | 0.0052 | 3 | c.260 others(18): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67728574 | A | ATAT | 3_prime_UTR_variant | MODIFIER | HG03516.hp2 | a0051 | a0051c0057 | a0051c0057t0038 | a0051c0057t0038g0165 | 1 | 193 | 0.0052 | 3 | c.*47 others(14): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4734 | chrX | TogoVar | |||||
| AR_chrX_67539021_67735619 | 67733210 | G | GGGA | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0026 | a0026c0051 | a0026c0051t0001 | a0026c0051t0001g0034 | 1 | 193 | 0.0052 | 3 | c.*93 others(14): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2592 | chrX | TogoVar | ||||||
| AS3MT_chr10_102864470_102906899 | 102870036 | G | GCTC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(182): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0086a0001c0001t0002g0002a0001c0001t0002g0003others(174): Show | 185 | 362 | 0.5111 | 3 | c.43- others(14): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAA | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01169.hp2 others(18): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0191a0001c0001t0001g0194others(17): Show | 21 | 362 | 0.0580 | 3 | c.171 others(18): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| AS3MT_chr10_102864470_102906899 | 102873275 | T | TTTA | intron_variant | MODIFIER | HG02486.hp1 HG03239.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270a0001c0001t0001g0271a0001c0001t0001g0272others(1): Show | 4 | 362 | 0.0111 | 3 | c.458 others(16): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| AS3MT_chr10_102864470_102906899 | 102873296 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(105): Show |
a0001 | a0001c0001a0001c0008a0001c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(98): Show | 108 | 362 | 0.2983 | 3 | c.458 others(16): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| AS3MT_chr10_102864470_102906899 | 102906246 | C | CAAA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0253a0001c0001t0001g0289a0001c0001t0001g0294others(3): Show | 6 | 362 | 0.0166 | 3 | c.*55 others(14): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4348 | chr10 | TogoVar | ||||||
| ASAH1_chr8_18050992_18089107 | 18071253 | T | TATA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show |
a0001a0005 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(124): Show | 178 | 420 | 0.4238 | 3 | c.216 others(16): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
| ASAH1_chr8_18050992_18089107 | 18079468 | C | CATT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(159): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0102a0001c0001t0001g0153a0001c0001t0001g0226others(106): Show | 162 | 420 | 0.3857 | 3 | c.79- others(18): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
| ASAH2B_chr10_50734936_50764255 | 50739185 | T | TTGA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(141): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0013others(51): Show | 144 | 414 | 0.3478 | 3 | c.-89 others(12): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 750 | chr10 | TogoVar | ||||||
| ASAH2B_chr10_50734936_50764255 | 50748745 | T | TCTC | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG01981.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0021a0001c0001t0027a0001c0001t0034others(12): Show | a0001c0001t0021g0007a0001c0001t0027g0059a0001c0001t0027g0060others(13): Show | 19 | 414 | 0.0459 | 3 | c.145 others(18): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ASAH2_chr10_50179861_50256516 | 50187084 | C | CTCT | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 NA18950.hp1 NA19000.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0022a0001c0002t0065a0003c0003t0072others(1): Show | a0001c0002t0022g0015a0001c0002t0022g0073a0001c0002t0022g0087others(4): Show | 8 | 408 | 0.0196 | 3 | c.*23 others(12): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | |||||
| ASAH2_chr10_50179861_50256516 | 50242206 | G | GGTA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(146): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0007others(10): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(69): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(126): Show | 149 | 408 | 0.3652 | 3 | c.510 others(18): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar |