view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 2960320 | G | GAGAA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01891.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0211 a0002c0003t0001g0209 a0002c0003t0001g0210 others(8): Show |
11 | 328 | 0.0335 | 4 | c.23+ others(15): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 2/10 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3656355 | C | CTTAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(55): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 others(48): Show |
58 | 394 | 0.1472 | 4 | c.-52 others(21): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3658334 | G | GAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02965.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0064 a0003c0003t0002g0018 a0003c0003t0002g0061 others(2): Show |
6 | 394 | 0.0152 | 4 | c.-52 others(19): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3661490 | C | CTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0001g0088 others(105): Show |
114 | 394 | 0.2893 | 4 | c.886 others(17): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76079176 | T | TAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG02083.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(18): Show |
29 | 392 | 0.0740 | 4 | c.70- others(19): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76079916 | T | TCACA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(57): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(39): Show |
60 | 392 | 0.1531 | 4 | c.70- others(19): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76111541 | G | GTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(196): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(142): Show |
199 | 392 | 0.5077 | 4 | c.103 others(21): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76114071 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(69): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0003a0004c0004t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0026 others(48): Show |
72 | 392 | 0.1837 | 4 | c.*15 others(15): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1286 | chr4 | TogoVar | |||||||
ART3_chr4_76069709_76117786 | 76114089 | A | AAAAC | downstream_gene_variant | MODIFIER | HG00597.hp1 HG03834.hp2 NA18942.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 a0002c0002t0003g0021 a0002c0002t0003g0052 others(2): Show |
8 | 392 | 0.0204 | 4 | c.*15 others(15): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1304 | chr4 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14824817 | T | TACAC | downstream_gene_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG02897.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0314 a0001c0001t0002g0016 a0001c0001t0002g0127 others(4): Show |
8 | 380 | 0.0211 | 4 | c.*45 others(15): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 751 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830119 | A | AGTGT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(50): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0140 a0001c0001t0001g0273 a0001c0001t0002g0031 others(44): Show |
53 | 380 | 0.1395 | 4 | c.854 others(19): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830536 | A | AGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01099.hp1 others(27): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0016others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0032 others(23): Show |
30 | 380 | 0.0790 | 4 | c.854 others(21): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14830649 | G | GTATA | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp1 HG01109.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0163 a0001c0001t0001g0229 a0001c0001t0001g0272 others(16): Show |
22 | 380 | 0.0579 | 4 | c.854 others(21): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14836076 | C | CATAT | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp2 HG02717.hp1 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0003 | a0005c0006t0002g0015 a0005c0006t0002g0121 a0005c0006t0002g0123 others(2): Show |
6 | 380 | 0.0158 | 4 | c.853 others(21): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230984343 | C | CGTGT | intron_variant | MODIFIER | HG02896.hp2 HG02965.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0044 a0001c0005t0001g0115 a0001c0005t0001g0116 |
4 | 402 | 0.0100 | 4 | c.175 others(21): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984365 | T | TGTGC | intron_variant | MODIFIER | HG01168.hp2 NA18942.hp2 NA18994.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0188 a0001c0001t0001g0189 others(3): Show |
6 | 402 | 0.0149 | 4 | c.175 others(21): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 231004534 | A | AACAC | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0111 |
3 | 402 | 0.0075 | 4 | c.*44 others(15): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 3802 | chr1 | TogoVar | |||||||
ARX_chrX_24998694_25020965 | 25001239 | T | TGGGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(21): Show |
40 | 300 | 0.1333 | 4 | c.*34 others(15): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2454 | chrX | TogoVar | |||||||
ARX_chrX_24998694_25020965 | 25001911 | A | AACAC | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0063 a0001c0001t0002g0007 a0001c0001t0002g0009 others(3): Show |
11 | 300 | 0.0367 | 4 | c.*27 others(15): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1782 | chrX | TogoVar | |||||||
ARX_chrX_24998694_25020965 | 25015353 | C | CAGGG | intron_variant | MODIFIER | NA18946.hp2 NA18957.hp1 NA19060.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035 |
5 | 300 | 0.0167 | 4 | c.196 others(19): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1/4 | chrX | TogoVar | |||||||
ARX_chrX_24998694_25020965 | 25018639 | T | TTATA | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01361.hp1 HG01496.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(13): Show |
30 | 300 | 0.1000 | 4 | c.-29 others(15): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2675 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67551001 | G | GTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(34): Show |
a0005a0007a0009others(17): Show | a0005c0059a0007c0079a0009c0015others(17): Show | a0005c0059t0029a0007c0079t0006a0009c0015t0007others(29): Show | a0005c0059t0029g0134 a0007c0079t0006g0119 a0009c0015t0007g0139 others(34): Show |
37 | 193 | 0.1917 | 4 | c.161 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67562356 | A | ATGTG | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02723.hp1 others(5): Show |
a0005a0019a0020others(3): Show | a0005c0025a0019c0066a0020c0017others(3): Show | a0005c0025t0004a0019c0066t0004a0020c0017t0019others(4): Show | a0005c0025t0004g0150 a0005c0025t0004g0164 a0019c0066t0004g0149 others(5): Show |
8 | 193 | 0.0415 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67597089 | G | GTTTC | intron_variant | MODIFIER | NA18940.hp1 NA19006.hp1 NA19056.hp1 |
a0007a0031a0032 | a0007c0014a0031c0032a0032c0031 | a0007c0014t0013a0031c0032t0013a0032c0031t0013 | a0007c0014t0013g0085 a0031c0032t0013g0062 a0032c0031t0013g0105 |
3 | 193 | 0.0155 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67604198 | A | ATGTG | intron_variant | MODIFIER | HG01074.hp1 HG01258.hp1 HG02083.hp1 others(12): Show |
a0002a0003a0006others(7): Show | a0002c0002a0003c0004a0006c0067others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0014others(11): Show | a0002c0002t0001g0057 a0002c0002t0003g0032 a0002c0002t0014g0027 others(12): Show |
15 | 193 | 0.0777 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67624904 | C | CAAAA | intron_variant | MODIFIER | HG03516.hp1 | a0027 | a0027c0047 | a0027c0047t0007 | a0027c0047t0007g0155 | 1 | 193 | 0.0052 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67626610 | T | TTATA | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02055.hp1 others(12): Show |
a0005a0007a0013others(8): Show | a0005c0013a0005c0063a0007c0078others(9): Show | a0005c0013t0018a0005c0013t0020a0005c0063t0004others(10): Show | a0005c0013t0018g0177 a0005c0013t0020g0173 a0005c0013t0020g0174 others(12): Show |
15 | 193 | 0.0777 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67695738 | A | AACAC | intron_variant | MODIFIER | HG03491.hp2 HG03710.hp1 HG04204.hp1 others(6): Show |
a0001a0002a0009others(5): Show | a0001c0001a0002c0002a0009c0016others(5): Show | a0001c0001t0064a0002c0002t0012a0009c0016t0003others(6): Show | a0001c0001t0064g0013 a0002c0002t0012g0190 a0009c0016t0003g0050 others(6): Show |
9 | 193 | 0.0466 | 4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67701674 | T | TCACA | intron_variant | MODIFIER | HG00099.hp2 HG02818.hp1 |
a0010a0021 | a0010c0005a0021c0023 | a0010c0005t0033a0021c0023t0001 | a0010c0005t0033g0148 a0021c0023t0001g0187 |
2 | 193 | 0.0104 | 4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67720879 | T | TACAC | intron_variant | MODIFIER | HG02886.hp2 HG03130.hp1 |
a0003a0005 | a0003c0004a0005c0013 | a0003c0004t0036a0005c0013t0004 | a0003c0004t0036g0170 a0005c0013t0004g0184 |
2 | 193 | 0.0104 | 4 | c.231 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723312 | C | CTCTG | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG02717.hp1 others(11): Show |
a0001a0006a0007others(10): Show | a0001c0001a0006c0067a0007c0014others(10): Show | a0001c0001t0003a0006c0067t0015a0007c0014t0016others(10): Show | a0001c0001t0003g0083 a0006c0067t0015g0014 a0007c0014t0016g0016 others(11): Show |
14 | 193 | 0.0725 | 4 | c.260 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723312 | C | CTGTG | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0008others(5): Show | a0001c0001a0002c0002a0008c0006others(5): Show | a0001c0001t0002a0002c0002t0009a0008c0006t0009others(6): Show | a0001c0001t0002g0026 a0002c0002t0009g0029 a0008c0006t0009g0074 others(6): Show |
9 | 193 | 0.0466 | 4 | c.260 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723353 | T | TGTCA | intron_variant | MODIFIER | NA18989.hp1 | a0013 | a0013c0052 | a0013c0052t0003 | a0013c0052t0003g0071 | 1 | 193 | 0.0052 | 4 | c.260 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67728574 | A | AATAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(52): Show |
a0001a0002a0003others(28): Show | a0001c0001a0002c0002a0003c0004others(30): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(33): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0064 others(52): Show |
55 | 193 | 0.2850 | 4 | c.*47 others(15): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4775 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67728609 | A | ATATG | 3_prime_UTR_variant | MODIFIER | HG02015.hp1 | a0014 | a0014c0009 | a0014c0009t0061 | a0014c0009t0061g0047 | 1 | 193 | 0.0052 | 4 | c.*47 others(15): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4772 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01123.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 others(19): Show |
22 | 362 | 0.0608 | 4 | c.171 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102886287 | T | TCCTC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0196 a0001c0001t0001g0217 a0001c0001t0001g0229 others(6): Show |
9 | 362 | 0.0249 | 4 | c.886 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102889614 | G | GCCTT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0086 others(121): Show |
126 | 362 | 0.3481 | 4 | c.886 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102892985 | A | AAAAT | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0178 a0001c0001t0001g0179 others(39): Show |
43 | 362 | 0.1188 | 4 | c.102 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18065882 | T | TTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(8): Show | a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0004g0029 others(42): Show |
68 | 420 | 0.1619 | 4 | c.382 others(21): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50739175 | C | CATTG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(54): Show |
143 | 414 | 0.3454 | 4 | c.-90 others(13): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 760 | chr10 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50743958 | A | ATTAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(125): Show |
332 | 414 | 0.8019 | 4 | c.-4+ others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50749919 | G | GGTGT | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0054a0001c0001t0058others(2): Show | a0001c0001t0027g0058 a0001c0001t0027g0059 a0001c0001t0054g0061 others(3): Show |
6 | 414 | 0.0145 | 4 | c.204 others(19): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754166 | C | CACAT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(109): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0095 a0001c0001t0002g0002 a0001c0001t0002g0042 others(36): Show |
112 | 414 | 0.2705 | 4 | c.294 others(19): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754891 | G | GGTGT | 3_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG02922.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0033a0002c0002t0070a0002c0002t0071 | a0002c0002t0033g0009 a0002c0002t0070g0009 a0002c0002t0071g0005 |
4 | 414 | 0.0097 | 4 | c.*19 others(13): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 198 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2B_chr10_50734936_50764255 | 50754941 | T | TGAGA | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG02886.hp2 HG03516.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0001c0001t0047a0002c0002t0024 | a0001c0001t0040g0078 a0001c0001t0047g0080 a0002c0002t0024g0005 |
4 | 414 | 0.0097 | 4 | c.*22 others(13): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 225 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187084 | C | CCTCT | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01496.hp2 others(12): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0051a0001c0003t0053a0001c0003t0071others(7): Show | a0001c0003t0051g0111 a0001c0003t0053g0077 a0001c0003t0071g0269 others(12): Show |
15 | 408 | 0.0368 | 4 | c.*22 others(13): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187118 | T | TCACA | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(25): Show |
a0001a0002 | a0001c0005a0002c0001a0002c0006 | a0001c0005t0055a0002c0001t0002a0002c0001t0108others(1): Show | a0001c0005t0055g0218 a0001c0005t0055g0220 a0002c0001t0002g0005 others(22): Show |
28 | 408 | 0.0686 | 4 | c.*19 others(13): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 196 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187118 | T | TCTCA | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02965.hp1 HG03041.hp1 others(4): Show |
a0001a0002a0013 | a0001c0003a0001c0005a0002c0001others(1): Show | a0001c0003t0019a0001c0005t0019a0002c0001t0105others(1): Show | a0001c0003t0019g0349 a0001c0005t0019g0026 a0001c0005t0019g0205 others(3): Show |
7 | 408 | 0.0172 | 4 | c.*19 others(13): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 196 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187885 | A | ATATG | intron_variant | MODIFIER | HG01981.hp2 HG02976.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0005a0001c0010a0001c0015 | a0001c0005t0117a0001c0010t0087a0001c0010t0102others(1): Show | a0001c0005t0117g0266 a0001c0010t0087g0050 a0001c0010t0102g0362 others(1): Show |
4 | 408 | 0.0098 | 4 | c.215 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 20/20 | chr10 | TogoVar |