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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP2_chr2_9201812_9410678 | 9270250 | A | AGTTCCC | intron_variant | MODIFIER | HG01496.hp2 HG02717.hp1 HG03098.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0011t0001g0178 |
3 | 210 | 0.0143 | 6 | c.127 others(23): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9275082 | G | GTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG02451.hp2 HG03486.hp2 others(5): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0004a0001c0003t0006a0001c0004t0005others(2): Show | a0001c0003t0004g0038 a0001c0003t0006g0104 a0001c0003t0006g0105 others(5): Show |
8 | 132 | 0.0606 | 6 | c.127 others(23): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9334018 | C | CTCTCTG | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG02647.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0019a0001c0003t0021others(2): Show | a0001c0002t0003g0188 a0001c0002t0019g0164 a0001c0003t0021g0040 others(7): Show |
10 | 210 | 0.0476 | 6 | c.687 others(21): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9338347 | A | ATCTCTC | intron_variant | MODIFIER | HG01175.hp2 HG02145.hp1 HG02486.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0019a0001c0003t0001a0001c0003t0004others(6): Show | a0001c0002t0019g0164 a0001c0003t0001g0210 a0001c0003t0004g0200 others(9): Show |
12 | 210 | 0.0571 | 6 | c.849 others(23): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9352212 | A | AACACAC | intron_variant | MODIFIER | HG02818.hp1 HG06807.hp1 NA18964.hp1 others(4): Show |
a0001a0002 | a0001c0003a0002c0008 | a0001c0003t0001a0001c0003t0006a0002c0008t0006 | a0001c0003t0001g0017 a0001c0003t0001g0029 a0001c0003t0001g0046 others(4): Show |
7 | 17 | 0.4118 | 6 | c.111 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9361974 | C | CGTGTGT | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0012 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0097 a0001c0002t0002g0055 a0001c0002t0002g0060 others(10): Show |
13 | 73 | 0.1781 | 6 | c.146 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9380181 | A | AGTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG02976.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0021 a0001c0004t0005g0034 a0001c0004t0005g0041 others(3): Show |
6 | 210 | 0.0286 | 6 | c.194 others(23): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23425176 | C | CGTGTGT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006 | a0001c0001t0003g0122 a0001c0001t0003g0145 a0001c0001t0005g0214 others(1): Show |
4 | 34 | 0.1176 | 6 | c.*46 others(17): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 3386 | chr1 | TogoVar | |||||||
ASAP3_chr1_23423563_23489179 | 23467173 | C | CATTATT | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01884.hp1 others(28): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0013 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0025 others(27): Show |
31 | 311 | 0.0997 | 6 | c.130 others(25): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15281696 | C | CTTTTTT | splice_region_variant | LOW | HG00438.hp2 HG01891.hp1 HG02109.hp2 others(10): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0006 | a0001c0001t0004a0001c0001t0011a0002c0002t0004others(1): Show | a0001c0001t0004g0150 a0001c0001t0004g0161 a0001c0001t0004g0168 others(8): Show |
13 | 175 | 0.0743 | 6 | c.*18 others(17): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 7/7 | chrX | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15309967 | C | CAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02572.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(1): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(5): Show |
8 | 159 | 0.0503 | 6 | c.181 others(23): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15312417 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp2 HG01256.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0003g0090 others(5): Show |
8 | 138 | 0.0580 | 6 | c.181 others(23): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15312837 | C | CTAACTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00597.hp1 others(141): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0008a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0074 others(128): Show |
144 | 304 | 0.4737 | 6 | c.181 others(23): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5652021 | A | ACCACAC | intron_variant | MODIFIER | NA18940.hp1 NA18970.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0100 a0001c0001t0006g0125 a0001c0001t0006g0126 |
3 | 361 | 0.0083 | 6 | c.232 others(21): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5652023 | A | ACCACAC | intron_variant | MODIFIER | HG00099.hp2 HG02074.hp1 HG03492.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0092 a0001c0001t0001g0098 others(6): Show |
9 | 271 | 0.0332 | 6 | c.232 others(21): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ASB14_chr3_57263342_57297685 | 57284094 | A | ATGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(50): Show |
a0001a0005a0006 | a0001c0001a0005c0011a0006c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(31): Show |
53 | 56 | 0.9464 | 6 | c.470 others(21): Show |
ASB14 | ENSG00000239388.10 | transcript | ENST00000487349.6 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123597917 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp1 HG01516.hp2 others(4): Show |
a0002a0003a0004 | a0002c0003a0003c0005a0003c0006others(1): Show | a0002c0003t0002a0002c0003t0017a0003c0005t0002others(2): Show | a0002c0003t0002g0177 a0002c0003t0002g0213 a0002c0003t0017g0033 others(3): Show |
7 | 166 | 0.0422 | 6 | c.-42 others(17): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 3903 | chr7 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123597924 | G | GTGTGTA | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0004g0061 a0001c0001t0005g0006 a0001c0001t0006g0006 others(4): Show |
8 | 378 | 0.0212 | 6 | c.-42 others(17): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 3896 | chr7 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123623891 | A | AGAAAAG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(53): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0016 others(41): Show |
56 | 204 | 0.2745 | 6 | c.452 others(21): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236202814 | T | TACACAC | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG02257.hp2 others(16): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0021others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0006others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0065 others(15): Show |
19 | 201 | 0.0945 | 6 | c.110 others(25): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236217424 | A | AAAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG01515.hp1 HG01515.hp2 others(17): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0005a0002c0009others(3): Show | a0001c0001t0001a0001c0001t0017a0002c0005t0001others(4): Show | a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0070 others(17): Show |
20 | 128 | 0.1563 | 6 | c.597 others(23): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236217424 | A | AATAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(36): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0002others(5): Show | a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0107 others(36): Show |
39 | 147 | 0.2653 | 6 | c.597 others(23): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236221244 | A | AACAACG | intron_variant | MODIFIER | HG01099.hp1 HG01358.hp1 HG01884.hp1 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0008a0002c0002others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(14): Show | a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0012 others(37): Show |
42 | 247 | 0.1700 | 6 | c.597 others(23): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236252267 | T | TCACACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0011t0002others(2): Show | a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0164 others(26): Show |
30 | 61 | 0.4918 | 6 | c.206 others(25): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ASB1_chr2_238421927_238457250 | 238438199 | A | ATTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG01261.hp1 HG01943.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0020a0001c0001t0037a0001c0001t0045others(4): Show | a0001c0001t0020g0068 a0001c0001t0037g0106 a0001c0001t0045g0105 others(8): Show |
18 | 120 | 0.1500 | 6 | c.494 others(23): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB2_chr14_93929166_93981570 | 93938233 | C | CTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp2 others(64): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(57): Show |
67 | 143 | 0.4685 | 6 | c.161 others(23): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 8/9 | chr14 | TogoVar | |||||||
ASB2_chr14_93929166_93981570 | 93947995 | G | GAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01106.hp2 others(34): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0001 | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0070 others(32): Show |
37 | 98 | 0.3776 | 6 | c.881 others(21): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 6/9 | chr14 | TogoVar | |||||||
ASB3_chr2_53664980_53791953 | 53671353 | C | CGTGTGT | intron_variant | MODIFIER | HG01255.hp2 HG02015.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0209 a0001c0001t0002g0255 others(4): Show |
7 | 77 | 0.0909 | 6 | c.137 others(23): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95493361 | A | AGTGTGT | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 |
3 | 262 | 0.0115 | 6 | c.188 others(23): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95513293 | A | ATGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(78): Show |
86 | 92 | 0.9348 | 6 | c.488 others(25): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95515161 | C | CTCTCTT | intron_variant | MODIFIER | HG02572.hp2 HG03704.hp2 HG03831.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0310 a0001c0001t0001g0355 a0001c0001t0002g0151 others(2): Show |
5 | 375 | 0.0133 | 6 | c.488 others(25): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95530105 | C | CAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG01258.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0035 a0001c0001t0001g0189 a0001c0001t0001g0190 others(17): Show |
21 | 176 | 0.1193 | 6 | c.978 others(23): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218510 | T | TATACAA | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01261.hp2 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 a0001c0002t0001g0086 a0001c0002t0001g0087 others(18): Show |
23 | 407 | 0.0565 | 6 | c.671 others(23): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218552 | T | TATATAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 a0001c0002t0001g0246 a0001c0002t0001g0248 others(6): Show |
9 | 403 | 0.0223 | 6 | c.671 others(23): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218607 | A | ATATATT | intron_variant | MODIFIER | HG03491.hp1 NA18952.hp2 NA18956.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 a0001c0002t0001g0274 a0001c0002t0001g0287 |
3 | 385 | 0.0078 | 6 | c.671 others(23): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218822 | A | ATATATT | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01069.hp1 others(8): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0003a0001c0002t0013a0001c0006t0003 | a0001c0002t0003g0002 a0001c0002t0003g0022 a0001c0002t0003g0046 others(6): Show |
11 | 250 | 0.0440 | 6 | c.671 others(23): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218941 | A | ATATATT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01069.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0009 a0001c0002t0001g0253 a0001c0002t0001g0257 others(8): Show |
13 | 305 | 0.0426 | 6 | c.671 others(23): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219010 | A | ATATATT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp2 others(65): Show |
a0001a0002a0006 | a0001c0002a0002c0012a0006c0007 | a0001c0002t0001a0001c0002t0017a0002c0012t0001others(1): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0026 others(58): Show |
68 | 255 | 0.2667 | 6 | c.671 others(23): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219575 | G | GATATAT | intron_variant | MODIFIER | HG01361.hp2 HG01975.hp1 HG02071.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0011 | a0001c0002t0002g0143 a0001c0002t0002g0244 a0001c0002t0002g0315 others(2): Show |
5 | 154 | 0.0325 | 6 | c.670 others(23): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219577 | T | TATATAA | intron_variant | MODIFIER | HG00408.hp1 HG01934.hp2 HG01978.hp2 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0001g0110 others(19): Show |
23 | 407 | 0.0565 | 6 | c.670 others(23): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB6_chr9_129629605_129647151 | 129644996 | C | CCACCCT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(397): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0055 others(59): Show |
400 | 419 | 0.9547 | 6 | c.-29 others(17): Show |
ASB6 | ENSG00000148331.12 | transcript | ENST00000277458.5 | protein_coding | 2846 | chr9 | TogoVar | |||||||
ASB6_chr9_129629605_129647151 | 129647085 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(166): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0002 a0001c0001t0002g0056 a0001c0001t0002g0061 others(30): Show |
169 | 206 | 0.8204 | 6 | c.-50 others(17): Show |
ASB6 | ENSG00000148331.12 | transcript | ENST00000277458.5 | protein_coding | 4935 | chr9 | TogoVar | |||||||
ASB7_chr15_100597589_100656701 | 100618622 | G | GGTGTGT | intron_variant | MODIFIER | HG00733.hp1 HG02698.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0115 a0001c0001t0001g0307 a0001c0001t0002g0106 others(6): Show |
9 | 180 | 0.0500 | 6 | c.211 others(23): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ASB8_chr12_48142789_48162515 | 48158545 | T | TTTATTA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(165): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(80): Show |
168 | 203 | 0.8276 | 6 | c.-11 others(17): Show |
ASB8 | ENSG00000177981.11 | transcript | ENST00000317697.8 | protein_coding | 1031 | chr12 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15250190 | G | GCATCAT | intron_variant | MODIFIER | HG02970.hp1 HG03540.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0002 | a0001c0001t0009g0198 a0001c0002t0002g0021 |
3 | 213 | 0.0141 | 6 | c.568 others(21): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 5/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15266935 | C | CAAAAAT | intron_variant | MODIFIER | HG01891.hp2 HG02293.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0113 a0001c0001t0008g0018 a0001c0001t0008g0048 others(5): Show |
9 | 101 | 0.0891 | 6 | c.94+ others(21): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15268334 | A | AAAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 others(97): Show |
124 | 241 | 0.5145 | 6 | c.94+ others(21): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15270081 | T | TACACAC | 5_prime_UTR_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01243.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0005 | a0001c0001t0005g0038 a0001c0001t0005g0204 a0001c0001t0005g0205 others(10): Show |
14 | 238 | 0.0588 | 6 | c.-21 others(15): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/7 | 208 | chrX | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72121532 | G | GAAAAGA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01346.hp1 others(52): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0130 others(52): Show |
55 | 206 | 0.2670 | 6 | c.957 others(23): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72125921 | C | CTGCAGA | intron_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG02486.hp2 others(5): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0002c0002t0004a0002c0002t0007others(1): Show | a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0004g0170 others(5): Show |
8 | 214 | 0.0374 | 6 | c.957 others(23): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 9/9 | chr10 | TogoVar |