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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP1_chr8_130047104_130448674 | 130268490 | A | ACACAC | intron_variant | MODIFIER | HG02056.hp1 HG04204.hp1 NA18966.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0226 a0002c0002t0003g0131 a0002c0002t0003g0249 |
3 | 43 | 0.0698 | 5 | c.187 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130362851 | C | CTAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(2): Show | a0001c0001t0001g0014 a0001c0005t0001g0166 a0001c0005t0005g0285 others(5): Show |
8 | 306 | 0.0261 | 5 | c.60- others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9254208 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 HG02523.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0002t0023a0001c0003t0004others(2): Show | a0001c0002t0002g0107 a0001c0002t0002g0139 a0001c0002t0002g0187 others(4): Show |
7 | 155 | 0.0452 | 5 | c.127 others(24): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254527 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp1 others(9): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0012others(2): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(4): Show | a0001c0003t0001g0029 a0001c0003t0004g0200 a0001c0003t0006g0006 others(9): Show |
12 | 133 | 0.0902 | 5 | c.127 others(24): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9275082 | G | GTTTTT | intron_variant | MODIFIER | HG02895.hp1 HG02976.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(3): Show | a0001c0002t0001g0097 a0001c0003t0001g0165 a0001c0003t0004g0200 others(3): Show |
6 | 130 | 0.0462 | 5 | c.127 others(22): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9275084 | T | TTTTTG | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(28): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0004t0005a0001c0012t0003others(4): Show | a0001c0002t0003g0027 a0001c0002t0003g0050 a0001c0002t0003g0052 others(28): Show |
31 | 210 | 0.1476 | 5 | c.127 others(22): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15281696 | C | CTTTTT | splice_region_variant | LOW | HG00280.hp1 HG00597.hp1 HG00609.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0015others(3): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(63): Show |
76 | 238 | 0.3193 | 5 | c.*18 others(16): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 7/7 | chrX | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15309967 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01123.hp1 others(10): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 others(7): Show |
13 | 164 | 0.0793 | 5 | c.181 others(22): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15312417 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0076 a0001c0001t0002g0003 a0001c0001t0002g0034 others(21): Show |
29 | 159 | 0.1824 | 5 | c.181 others(22): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15316407 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0004c0004t0008 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(4): Show |
7 | 89 | 0.0787 | 5 | c.-80 others(14): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 768 | chrX | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5652026 | C | CACACA | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01123.hp1 others(9): Show |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0151 a0001c0001t0002g0187 others(9): Show |
12 | 165 | 0.0727 | 5 | c.232 others(20): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5662560 | G | GGAGAA | intron_variant | MODIFIER | HG00733.hp2 HG01168.hp1 HG02040.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0003g0010 a0001c0001t0003g0079 a0001c0001t0003g0083 others(7): Show |
11 | 427 | 0.0258 | 5 | c.43+ others(20): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5662565 | G | GGAGAA | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01257.hp2 others(40): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0142 others(37): Show |
43 | 156 | 0.2756 | 5 | c.43+ others(20): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5662566 | G | GAGAAC | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0009 | a0001c0001t0001g0249 a0001c0001t0004g0371 a0001c0002t0009g0372 others(1): Show |
4 | 442 | 0.0090 | 5 | c.43+ others(20): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASB14_chr3_57263342_57297685 | 57269450 | A | AGAATT | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp2 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(59): Show |
93 | 334 | 0.2784 | 5 | c.*19 others(14): Show |
ASB14 | ENSG00000239388.10 | transcript | ENST00000487349.6 | protein_coding | 11/11 | 7099 | chr3 | TogoVar | ||||||
ASB14_chr3_57263342_57297685 | 57288708 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(38): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 others(22): Show |
41 | 127 | 0.3228 | 5 | c.178 others(20): Show |
ASB14 | ENSG00000239388.10 | transcript | ENST00000487349.6 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
ASB16_chr17_44165704_44184084 | 44181750 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01192.hp2 HG01934.hp2 others(16): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 a0003c0003t0001g0016 a0003c0003t0001g0017 others(9): Show |
19 | 360 | 0.0528 | 5 | c.*33 others(16): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 2667 | chr17 | TogoVar | |||||||
ASB17_chr1_75913873_75937404 | 75920758 | G | GCTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00639.hp2 others(36): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0001a0007c0009t0001 | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0046 others(13): Show |
39 | 334 | 0.1168 | 5 | c.681 others(22): Show |
ASB17 | ENSG00000154007.7 | transcript | ENST00000284142.7 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
ASB17_chr1_75913873_75937404 | 75922488 | C | CTTTTT | intron_variant | MODIFIER | HG01358.hp1 HG01952.hp2 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0045 others(3): Show |
13 | 47 | 0.2766 | 5 | c.402 others(20): Show |
ASB17 | ENSG00000154007.7 | transcript | ENST00000284142.7 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236201532 | G | GGTTAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(62): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0040 others(61): Show |
65 | 248 | 0.2621 | 5 | c.110 others(24): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
ASB2_chr14_93929166_93981570 | 93938233 | C | CTTTTT | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG03017.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0024 a0001c0001t0002g0140 a0001c0001t0002g0178 others(5): Show |
8 | 84 | 0.0952 | 5 | c.161 others(22): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 8/9 | chr14 | TogoVar | |||||||
ASB2_chr14_93929166_93981570 | 93947995 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(171): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 others(163): Show |
174 | 235 | 0.7404 | 5 | c.881 others(20): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 6/9 | chr14 | TogoVar | |||||||
ASB2_chr14_93929166_93981570 | 93962107 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01099.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0127 a0001c0001t0001g0150 others(16): Show |
19 | 82 | 0.2317 | 5 | c.206 others(22): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
ASB2_chr14_93929166_93981570 | 93967338 | C | CCTCCT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0065 others(137): Show |
147 | 372 | 0.3952 | 5 | c.-73 others(22): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ASB3_chr2_53664980_53791953 | 53731408 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00621.hp1 others(78): Show |
a0001a0004a0006 | a0001c0001a0004c0009a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(75): Show |
81 | 348 | 0.2328 | 5 | c.356 others(22): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 3/9 | chr2 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95484125 | G | GCAGAT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG02486.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(2): Show | a0002c0002t0001g0045 a0002c0002t0003g0317 a0002c0002t0004g0036 others(10): Show |
14 | 386 | 0.0363 | 5 | c.-18 others(16): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 1817 | chr7 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95530105 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG02647.hp2 HG02698.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0002g0295 others(4): Show |
7 | 162 | 0.0432 | 5 | c.978 others(22): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176224221 | A | ATTTTT | intron_variant | MODIFIER | HG00642.hp2 HG02071.hp1 HG02135.hp2 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0006a0001c0002t0012others(1): Show | a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0244 others(8): Show |
13 | 44 | 0.2955 | 5 | c.276 others(22): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267417 | A | ATATAT | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0136 a0001c0001t0003g0249 a0001c0001t0005g0204 others(5): Show |
8 | 115 | 0.0696 | 5 | c.94+ others(20): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15268334 | A | AAAAAC | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0002g0113 others(75): Show |
93 | 210 | 0.4429 | 5 | c.94+ others(20): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72127664 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01884.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0051 others(23): Show |
26 | 85 | 0.3059 | 5 | c.957 others(20): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72187719 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG02486.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(11): Show |
14 | 122 | 0.1148 | 5 | c.489 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72188075 | T | TTCTCA | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01069.hp1 others(68): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0145 others(68): Show |
71 | 214 | 0.3318 | 5 | c.489 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72189802 | C | CAAAAA | intron_variant | MODIFIER | HG01346.hp1 HG01433.hp2 HG02280.hp2 others(17): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0145 a0001c0001t0001g0146 others(17): Show |
20 | 152 | 0.1316 | 5 | c.489 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72198209 | G | GGGAGA | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0060 others(67): Show |
70 | 213 | 0.3286 | 5 | c.311 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608731 | T | TATATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 NA18941.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0010 others(3): Show |
6 | 118 | 0.0508 | 5 | c.478 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608731 | T | TTTATA | intron_variant | MODIFIER | HG00544.hp1 HG02976.hp2 HG06807.hp2 others(2): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0002a0001c0002t0003a0004c0008t0002 | a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0093 others(2): Show |
5 | 117 | 0.0427 | 5 | c.478 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608737 | A | ATATTT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show |
10 | 310 | 0.0323 | 5 | c.478 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100675127 | G | GTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG02129.hp1 NA18612.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(4): Show |
7 | 309 | 0.0227 | 5 | c.228 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 14/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100681725 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG02055.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0020a0002c0003others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0201 a0001c0002t0001g0204 a0001c0002t0002g0137 others(18): Show |
21 | 118 | 0.1780 | 5 | c.215 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 13/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100723902 | A | ATATAT | intron_variant | MODIFIER | HG01081.hp2 HG02080.hp1 NA18945.hp1 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0172 a0003c0004t0004g0193 a0003c0004t0004g0195 |
3 | 295 | 0.0102 | 5 | c.190 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100730298 | G | GAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(116): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0019others(10): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(15): Show | a0001c0001t0001g0255 a0001c0001t0001g0271 a0001c0002t0002g0082 others(116): Show |
119 | 158 | 0.7532 | 5 | c.173 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100771540 | T | TATATA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(281): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0011others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(281): Show |
284 | 312 | 0.9103 | 5 | c.139 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 8/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100850098 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(57): Show |
a0002a0004a0009others(3): Show | a0002c0003a0004c0008a0009c0037others(3): Show | a0002c0003t0002a0002c0003t0018a0004c0008t0002others(5): Show | a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 others(57): Show |
60 | 141 | 0.4255 | 5 | c.242 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 3/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100885809 | T | TAAAGA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01071.hp2 others(27): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(10): Show | a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 others(27): Show |
30 | 312 | 0.0962 | 5 | c.-47 others(16): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 4481 | chr6 | TogoVar | |||||||
ASCL2_chr11_2263498_2275588 | 2274777 | C | CGTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01256.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0007 others(2): Show |
22 | 418 | 0.0526 | 5 | c.-44 others(16): Show |
ASCL2 | ENSG00000183734.5 | transcript | ENST00000331289.5 | protein_coding | 4190 | chr11 | TogoVar | |||||||
ASCL5_chr1_201108943_201132184 | 201113774 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02080.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0101 others(2): Show |
8 | 137 | 0.0584 | 5 | c.*97 others(14): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 168 | chr1 | TogoVar | |||||||
ASCL5_chr1_201108943_201132184 | 201131008 | A | AAATAT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(69): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(27): Show |
72 | 405 | 0.1778 | 5 | c.-44 others(16): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 3825 | chr1 | TogoVar | |||||||
ASGR1_chr17_7168431_7184370 | 7177189 | T | TCCCTG | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG02015.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0053 others(5): Show |
28 | 440 | 0.0636 | 5 | c.187 others(18): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7104348 | T | TAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02257.hp2 others(18): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0006g0005 a0001c0001t0006g0104 a0001c0001t0006g0112 others(8): Show |
21 | 111 | 0.1892 | 5 | c.649 others(22): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 7/8 | chr17 | TogoVar |