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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASH1L_chr1_155330268_155567803 | 155555840 | C | CTATATA | intron_variant | MODIFIER | HG02129.hp2 NA18951.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0023g0158 |
3 | 180 | 0.0167 | 6 | c.-10 others(25): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38107868 | A | ATGTGTG | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG01256.hp1 others(18): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0007 | a0001c0001t0001a0001c0003t0001a0004c0007t0001 | a0001c0001t0001g0020 a0001c0001t0001g0235 a0001c0001t0001g0236 others(18): Show |
21 | 99 | 0.2121 | 6 | c.401 others(21): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38121333 | T | TTATTTA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0044 others(4): Show |
7 | 67 | 0.1045 | 6 | c.116 others(23): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38142491 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02451.hp1 NA18969.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0085 a0001c0001t0001g0246 a0003c0006t0001g0301 |
3 | 5 | 0.6000 | 6 | c.*34 others(17): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 2412 | chr8 | TogoVar | |||||||
ASIC1_chr12_50052596_50088611 | 50074860 | C | CTGTGTG | intron_variant | MODIFIER | HG00438.hp2 HG01934.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0001 | a0001c0001t0002g0032 a0001c0002t0002g0022 a0001c0002t0002g0162 others(2): Show |
8 | 33 | 0.2424 | 6 | c.559 others(23): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33008607 | T | TAAAAAC | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0009a0001c0001t0024a0001c0002t0005others(3): Show | a0001c0001t0009g0074 a0001c0001t0024g0085 a0001c0002t0005g0108 others(3): Show |
6 | 238 | 0.0252 | 6 | c.*53 others(17): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 4479 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33087575 | G | GTTTTTT | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02896.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0013 a0001c0001t0004g0073 a0001c0001t0007g0225 others(4): Show |
7 | 94 | 0.0745 | 6 | c.987 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33150849 | C | CAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00741.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0003g0040 a0001c0001t0003g0075 a0001c0001t0003g0076 others(8): Show |
11 | 131 | 0.0840 | 6 | c.709 others(25): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33164576 | G | GCACACA | intron_variant | MODIFIER | HG01433.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0004g0078 a0001c0001t0006g0029 a0001c0001t0009g0074 others(1): Show |
4 | 73 | 0.0548 | 6 | c.709 others(25): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33282479 | G | GTGTGCT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0003g0046 a0001c0001t0003g0075 a0001c0001t0004g0009 others(38): Show |
41 | 101 | 0.4059 | 6 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33288715 | G | GACACAC | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01243.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0056 a0001c0001t0006g0057 a0001c0001t0007g0237 others(3): Show |
6 | 45 | 0.1333 | 6 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC4_chr2_219509482_219543772 | 219530386 | A | AGAAGCC | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG03130.hp2 |
a0002a0009a0012 | a0002c0007a0009c0016a0012c0017 | a0002c0007t0001a0009c0016t0001a0012c0017t0001 | a0002c0007t0001g0221 a0009c0016t0001g0222 a0012c0017t0001g0223 |
3 | 370 | 0.0081 | 6 | c.583 others(23): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155839348 | T | TACACAC | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp2 HG03516.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0003 | a0001c0002t0003g0026 a0001c0003t0003g0031 a0001c0003t0003g0032 others(4): Show |
10 | 18 | 0.5556 | 6 | c.101 others(23): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 6/9 | chr4 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66087243 | C | CGTGTGT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 others(4): Show |
13 | 75 | 0.1733 | 6 | c.603 others(19): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1420039 | G | GTCTCTA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(19): Show |
a0001a0004a0005others(4): Show | a0001c0012a0004c0007a0004c0009others(5): Show | a0001c0012t0001a0004c0007t0001a0004c0007t0002others(6): Show | a0001c0012t0001g0070 a0001c0012t0001g0167 a0004c0007t0001g0007 others(19): Show |
22 | 183 | 0.1202 | 6 | c.124 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 9/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1619549 | T | TATAATA | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01517.hp2 others(27): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0061 others(27): Show |
30 | 112 | 0.2679 | 6 | c.70- others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1625954 | C | CAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01346.hp2 HG02004.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0002g0151 others(7): Show |
10 | 56 | 0.1786 | 6 | c.374 others(23): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1644219 | T | TTTATTA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0059 others(38): Show |
41 | 77 | 0.5325 | 6 | c.*12 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | |||||||
ASNS_chr7_97846677_97877408 | 97868519 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(45): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0024 others(17): Show |
48 | 287 | 0.1672 | 6 | c.249 others(21): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ASNS_chr7_97846677_97877408 | 97868533 | G | GTGTGTA | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0006a0001c0008t0001 | a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0096 others(2): Show |
7 | 434 | 0.0161 | 6 | c.249 others(21): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3473866 | C | CTGGAAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00735.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0193 a0001c0001t0002g0188 a0001c0001t0002g0189 others(30): Show |
42 | 448 | 0.0938 | 6 | c.-22 others(17): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 2130 | chr17 | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3500511 | T | TTTTTTG | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0027 a0001c0001t0011g0140 a0001c0001t0011g0213 others(3): Show |
6 | 79 | 0.0759 | 6 | c.*14 others(17): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 6/6 | 1429 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPDH_chr19_50506603_50518913 | 50508698 | C | CGTGTGT | downstream_gene_variant | MODIFIER | HG01243.hp1 NA18992.hp2 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0002c0002t0001g0002 |
3 | 94 | 0.0319 | 6 | c.*30 others(17): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26438496 | C | CATATAT | intron_variant | MODIFIER | HG01993.hp2 HG03492.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 4 | 298 | 0.0134 | 6 | c.887 others(23): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438570 | T | TATATAC | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0051 a0001c0001t0003g0148 a0001c0001t0013g0051 |
3 | 426 | 0.0070 | 6 | c.887 others(23): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61550442 | T | TACACAC | intron_variant | MODIFIER | NA19004.hp2 NA19006.hp1 NA19068.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0006a0007c0010t0006 | a0001c0001t0006g0100 a0001c0001t0006g0119 a0007c0010t0006g0081 |
3 | 24 | 0.1250 | 6 | c.162 others(25): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 20/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61562389 | C | CTCTGTG | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00741.hp2 others(24): Show |
a0001a0007 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0004g0219 others(24): Show |
27 | 108 | 0.2500 | 6 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61711080 | A | AAATAAT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp1 others(193): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(192): Show |
196 | 256 | 0.7656 | 6 | c.103 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69956451 | G | GGAAGAA | downstream_gene_variant | MODIFIER | HG02132.hp1 HG02602.hp2 HG02735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 8 | 295 | 0.0271 | 6 | c.*42 others(17): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 3637 | chr2 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 81975032 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0002 | a0001c0003t0001g0166 a0001c0008t0002g0009 a0001c0008t0002g0211 others(1): Show |
6 | 243 | 0.0247 | 6 | c.-26 others(17): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 2596 | chr17 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 82002554 | C | CTATTTT | intron_variant | MODIFIER | HG02273.hp2 HG02572.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0089 others(1): Show |
5 | 364 | 0.0137 | 6 | c.933 others(23): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62338932 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(195): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(193): Show |
198 | 200 | 0.9900 | 6 | c.190 others(21): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362813 | T | TACACAC | intron_variant | MODIFIER | HG00423.hp2 HG02647.hp2 HG02809.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0060 a0001c0001t0005g0350 a0001c0001t0007g0312 others(4): Show |
7 | 32 | 0.2188 | 6 | c.491 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62366531 | C | CTTCCCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(101): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(99): Show |
104 | 368 | 0.2826 | 6 | c.491 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375428 | T | TTATATA | intron_variant | MODIFIER | HG00099.hp1 HG01256.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0098 a0001c0001t0002g0187 a0001c0001t0002g0223 others(8): Show |
11 | 87 | 0.1264 | 6 | c.492 others(25): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62384035 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(72): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0015others(7): Show | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0009 others(70): Show |
75 | 334 | 0.2246 | 6 | c.492 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130448415 | T | TGTGCGC | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 others(3): Show |
6 | 369 | 0.0163 | 6 | c.-6+ others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130448422 | G | GCGCGCA | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00741.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0224 others(20): Show |
27 | 101 | 0.2673 | 6 | c.-6+ others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130495444 | C | CATATAT | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0213 a0001c0001t0001g0214 |
3 | 362 | 0.0083 | 6 | c.112 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130495470 | T | TACACAC | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0094 others(6): Show |
9 | 240 | 0.0375 | 6 | c.112 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130495472 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(89): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(85): Show |
92 | 178 | 0.5169 | 6 | c.112 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176866653 | A | AAATAAT | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01346.hp1 others(16): Show |
a0001a0003 | a0001c0002a0001c0005a0001c0009others(2): Show | a0001c0002t0014a0001c0005t0004a0001c0005t0005others(5): Show | a0001c0002t0014g0004 a0001c0005t0004g0072 a0001c0005t0004g0076 others(16): Show |
19 | 109 | 0.1743 | 6 | c.364 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 22/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176897274 | C | CAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0005a0001c0009a0001c0012 | a0001c0005t0004a0001c0005t0005a0001c0009t0004others(1): Show | a0001c0005t0004g0077 a0001c0005t0005g0057 a0001c0005t0005g0102 others(2): Show |
5 | 78 | 0.0641 | 6 | c.267 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176942820 | G | GTGTATA | intron_variant | MODIFIER | HG02922.hp1 NA18974.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0002t0020a0001c0006t0002 | a0001c0001t0002g0046 a0001c0002t0020g0007 a0001c0006t0002g0044 |
3 | 85 | 0.0353 | 6 | c.237 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176942866 | A | ATATATT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0007g0097 |
3 | 9 | 0.3333 | 6 | c.237 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176970731 | G | GGTGTGT | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0002a0001c0002t0020a0001c0003t0001others(5): Show | a0001c0002t0002g0013 a0001c0002t0002g0032 a0001c0002t0020g0007 others(12): Show |
15 | 17 | 0.8824 | 6 | c.152 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176985845 | T | TACACAC | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02615.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0007 | a0001c0002t0007a0001c0009t0004a0002c0007t0016 | a0001c0002t0007g0023 a0001c0002t0007g0074 a0001c0009t0004g0005 others(1): Show |
4 | 30 | 0.1333 | 6 | c.152 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176996310 | C | CACACAG | intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 HG03225.hp1 |
a0001a0002 | a0001c0003a0002c0011 | a0001c0003t0002a0002c0011t0009 | a0001c0003t0002g0100 a0002c0011t0009g0003 a0002c0011t0009g0040 |
3 | 79 | 0.0380 | 6 | c.152 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177033123 | C | CTGTGTG | intron_variant | MODIFIER | HG00673.hp2 HG03239.hp2 HG03471.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0047 a0001c0001t0008g0085 a0001c0001t0010g0101 others(5): Show |
8 | 33 | 0.2424 | 6 | c.472 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177044176 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp1 others(11): Show |
a0001a0002a0004 | a0001c0006a0002c0004a0004c0013 | a0001c0006t0001a0001c0006t0010a0002c0004t0003others(1): Show | a0001c0006t0001g0062 a0001c0006t0010g0027 a0002c0004t0003g0042 others(11): Show |
14 | 79 | 0.1772 | 6 | c.472 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar |