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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSB_chr5_78772209_78990310 | 78873498 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(78): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 others(78): Show |
81 | 98 | 0.8265 | 7 | c.114 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78905344 | G | GTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG01346.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0189 a0001c0001t0003g0033 a0001c0001t0003g0160 others(32): Show |
35 | 94 | 0.3723 | 7 | c.899 others(26): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78962524 | A | ATTTTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0012others(6): Show | a0001c0001t0002g0005 a0001c0003t0002g0272 a0001c0003t0002g0354 others(7): Show |
10 | 103 | 0.0971 | 7 | c.690 others(24): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 3/7 | chr5 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3037077 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02922.hp1 |
a0001a0006 | a0001c0001a0001c0005a0006c0018 | a0001c0001t0001a0001c0005t0001a0006c0018t0002 | a0001c0001t0001g0044 a0001c0005t0001g0043 a0006c0018t0002g0131 |
3 | 174 | 0.0172 | 7 | c.-46 others(18): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4393 | chrX | TogoVar | |||||||
ARSG_chr17_68286495_68425814 | 68393867 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01069.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0009a0001c0020others(10): Show | a0001c0005t0001a0001c0005t0002a0001c0009t0001others(12): Show | a0001c0005t0001g0018 a0001c0005t0001g0043 a0001c0005t0001g0127 others(34): Show |
37 | 248 | 0.1492 | 7 | c.109 others(26): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012605 | T | TATATATA | intron_variant | MODIFIER | HG01175.hp2 HG03209.hp1 HG03669.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0145 a0001c0001t0001g0146 others(3): Show |
7 | 94 | 0.0745 | 7 | c.215 others(22): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3037077 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02922.hp1 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0196 a0001c0007t0002g0197 a0001c0007t0002g0203 |
3 | 223 | 0.0135 | 7 | c.*36 others(18): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2967 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3663076 | A | ATCTCATC | intron_variant | MODIFIER | HG02015.hp2 HG02080.hp2 HG03139.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0007a0005c0006t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0071 others(9): Show |
12 | 337 | 0.0356 | 7 | c.887 others(24): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663089 | A | ATCTCATC | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0073 |
3 | 182 | 0.0165 | 7 | c.887 others(24): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888877 | A | ATTTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03139.hp2 others(4): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0004 | a0001c0002t0004g0030 a0001c0002t0004g0032 a0001c0002t0004g0036 others(4): Show |
7 | 286 | 0.0245 | 7 | c.886 others(24): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070998 | A | AGGGGAGG | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0172 |
3 | 281 | 0.0107 | 7 | c.270 others(26): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130071003 | G | GAGAGAGA | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0216 others(2): Show |
5 | 287 | 0.0174 | 7 | c.270 others(26): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130093666 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG02071.hp2 HG02080.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0015a0002c0002t0023 | a0002c0002t0003g0118 a0002c0002t0003g0120 a0002c0002t0003g0123 others(6): Show |
9 | 155 | 0.0581 | 7 | c.240 others(26): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130101732 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0018a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0018g0294 a0002c0002t0001g0012 a0002c0002t0001g0018 others(40): Show |
43 | 110 | 0.3909 | 7 | c.240 others(26): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130188739 | A | AAAAAAAG | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0017 a0002c0003t0001g0022 a0002c0003t0001g0023 others(8): Show |
11 | 306 | 0.0359 | 7 | c.406 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 5/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130406255 | T | TTCATTCA | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01074.hp2 others(80): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0038 others(80): Show |
83 | 306 | 0.2712 | 7 | c.-27 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9254527 | A | ATTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0003a0001c0003t0001a0001c0003t0006others(2): Show | a0001c0002t0003g0166 a0001c0003t0001g0153 a0001c0003t0006g0104 others(4): Show |
7 | 128 | 0.0547 | 7 | c.127 others(26): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9275082 | G | GTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0008a0001c0003t0001a0001c0003t0006others(3): Show | a0001c0002t0008g0048 a0001c0003t0001g0029 a0001c0003t0001g0046 others(10): Show |
13 | 137 | 0.0949 | 7 | 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 | 9387213 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(11): Show |
a0001 | a0001c0002a0001c0006a0001c0007 | a0001c0002t0001a0001c0002t0003a0001c0006t0004others(1): Show | a0001c0002t0001g0024 a0001c0002t0001g0134 a0001c0002t0003g0148 others(11): Show |
14 | 125 | 0.1120 | 7 | c.213 others(26): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15309967 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG02280.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(3): Show |
6 | 157 | 0.0382 | 7 | c.181 others(24): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15316407 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(70): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0074 others(64): Show |
73 | 155 | 0.4710 | 7 | c.-80 others(16): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 768 | chrX | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5652026 | C | CACACACA | intron_variant | MODIFIER | HG01243.hp2 HG02083.hp1 HG02486.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(4): Show | a0001c0001t0001g0026 a0001c0001t0001g0213 a0001c0001t0006g0127 others(11): Show |
15 | 168 | 0.0893 | 7 | c.232 others(22): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5667422 | A | ACCTGTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01123.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 a0001c0001t0003g0277 a0001c0001t0003g0288 others(1): Show |
4 | 444 | 0.0090 | 7 | c.-87 others(16): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 828 | chr10 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236217424 | A | AAAATAAT | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp1 HG02895.hp2 others(5): Show |
a0001a0003 | a0001c0003a0001c0008a0003c0004others(1): Show | a0001c0003t0006a0001c0008t0003a0003c0004t0004others(1): Show | a0001c0003t0006g0218 a0001c0008t0003g0003 a0001c0008t0003g0077 others(4): Show |
8 | 116 | 0.0690 | 7 | c.597 others(24): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236217424 | A | AAATAAAT | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0006others(6): Show | a0001c0001t0001g0188 a0001c0003t0002g0050 a0001c0003t0006g0075 others(11): Show |
16 | 124 | 0.1290 | 7 | c.597 others(24): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236217424 | A | ATAATAAT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0064 others(28): Show |
31 | 139 | 0.2230 | 7 | c.597 others(24): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB1_chr2_238421927_238457250 | 238438199 | A | ATTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01884.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0002t0005others(4): Show | a0001c0001t0002g0069 a0001c0001t0003g0035 a0001c0001t0003g0123 others(19): Show |
32 | 134 | 0.2388 | 7 | c.494 others(24): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB2_chr14_93929166_93981570 | 93938233 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00735.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0004 | a0001c0001t0002g0012 a0001c0001t0002g0080 a0001c0001t0002g0082 others(32): Show |
37 | 113 | 0.3274 | 7 | c.161 others(24): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 8/9 | chr14 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95530105 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01192.hp1 HG01358.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0166 others(23): Show |
26 | 181 | 0.1436 | 7 | c.978 others(24): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176251564 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01516.hp1 others(26): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0001c0001t0019a0004c0011t0001 | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0102 others(23): Show |
29 | 141 | 0.2057 | 7 | c.196 others(26): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
ASB7_chr15_100597589_100656701 | 100622200 | C | CAAAAAGA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(82): Show |
99 | 108 | 0.9167 | 7 | c.212 others(24): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15266780 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02293.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0113 a0001c0001t0008g0018 a0001c0001t0008g0048 others(5): Show |
9 | 334 | 0.0269 | 7 | c.94+ others(22): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72121531 | A | AAGAAAAG | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG02809.hp1 others(5): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0004c0004t0005a0005c0005t0005 | a0003c0003t0002g0001 a0003c0003t0002g0144 a0003c0003t0002g0154 others(5): Show |
8 | 214 | 0.0374 | 7 | c.957 others(24): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72127664 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01243.hp2 others(16): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0041 a0001c0001t0001g0074 a0001c0001t0001g0079 others(16): Show |
19 | 78 | 0.2436 | 7 | c.957 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72162942 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0007 | a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0004g0170 others(4): Show |
7 | 162 | 0.0432 | 7 | c.490 others(24): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72189802 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02257.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0002c0002t0001g0169 a0002c0002t0001g0175 a0002c0002t0001g0181 others(4): Show |
7 | 139 | 0.0504 | 7 | c.489 others(24): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72198284 | A | AGGGGGAG | intron_variant | MODIFIER | HG01346.hp1 HG01433.hp2 HG02486.hp1 others(19): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0009 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0145 a0001c0001t0001g0146 others(19): Show |
22 | 214 | 0.1028 | 7 | c.311 others(24): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72220325 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG03130.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0007 | a0002c0002t0001g0201 a0002c0002t0004g0198 a0002c0002t0004g0200 others(2): Show |
5 | 137 | 0.0365 | 7 | c.-41 others(18): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4050 | chr10 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608731 | T | TATATATA | intron_variant | MODIFIER | NA18946.hp2 NA18966.hp1 NA18998.hp2 others(1): Show |
a0002a0004 | a0002c0003a0004c0008 | a0002c0003t0002a0004c0008t0003 | a0002c0003t0002g0015 a0002c0003t0002g0026 a0002c0003t0002g0041 others(1): Show |
4 | 116 | 0.0345 | 7 | c.478 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100675130 | G | GTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01361.hp2 others(17): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 others(17): Show |
20 | 180 | 0.1111 | 7 | c.228 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 14/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100723902 | A | ATATATAT | intron_variant | MODIFIER | HG01952.hp1 HG02602.hp2 NA18747.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0177 a0003c0004t0004g0179 a0003c0004t0004g0183 others(2): Show |
5 | 297 | 0.0168 | 7 | c.190 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7116869 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00639.hp1 others(86): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(71): Show |
89 | 244 | 0.3648 | 7 | c.-23 others(18): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2048 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33108911 | A | AAATCCAT | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00741.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0003g0058 a0001c0001t0004g0014 a0001c0001t0004g0062 others(32): Show |
35 | 238 | 0.1471 | 7 | c.859 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34246986 | T | TTTTTTTG | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 a0001c0001t0002g0190 a0001c0001t0002g0191 others(1): Show |
4 | 246 | 0.0163 | 7 | c.-11 others(24): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1625954 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01891.hp1 HG02630.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0082 a0001c0001t0001g0204 others(8): Show |
11 | 57 | 0.1930 | 7 | c.374 others(24): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1644219 | T | TTTTATTA | downstream_gene_variant | MODIFIER | HG01168.hp1 HG04204.hp2 NA18975.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0045 a0002c0002t0001g0067 a0002c0002t0002g0095 |
3 | 39 | 0.0769 | 7 | c.*12 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62338932 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01517.hp1 HG02004.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(18): Show |
22 | 24 | 0.9167 | 7 | c.190 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362518 | T | TATATAAA | intron_variant | MODIFIER | HG02135.hp1 HG02165.hp1 NA18960.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0008t0001g0016 |
3 | 312 | 0.0096 | 7 | c.491 others(24): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362629 | A | AAATATAT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0229 |
3 | 362 | 0.0083 | 7 | c.491 others(24): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62382244 | G | GGTGCTCA | intron_variant | MODIFIER | HG02056.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0021a0001c0001t0038a0001c0005t0040others(3): Show | a0001c0001t0021g0330 a0001c0001t0021g0332 a0001c0001t0038g0333 others(4): Show |
7 | 368 | 0.0190 | 7 | c.492 others(24): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |