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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASGR2_chr17_7096326_7119822 | 7113707 | C | CACACA | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 a0001c0001t0005g0265 a0001c0001t0005g0266 others(6): Show |
11 | 430 | 0.0256 | 5 | c.124 others(20): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7116869 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01884.hp2 HG01928.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0122 a0001c0001t0001g0133 others(26): Show |
37 | 192 | 0.1927 | 5 | c.-23 others(16): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2048 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7118414 | T | TCTCAA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00639.hp2 others(61): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(44): Show |
64 | 430 | 0.1488 | 5 | c.-38 others(16): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3593 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155378023 | A | AAAAAC | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02723.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 others(1): Show |
4 | 180 | 0.0222 | 5 | c.633 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 10/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155489835 | T | TAAATA | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02723.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 |
3 | 180 | 0.0167 | 5 | c.421 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155545175 | C | CAAAAA | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02683.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0066 others(8): Show |
11 | 49 | 0.2245 | 5 | c.-10 others(26): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38109379 | C | CTTGGT | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02572.hp1 others(2): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0004a0001c0003t0005a0003c0006t0001 | a0001c0003t0004g0304 a0001c0003t0005g0303 a0003c0006t0001g0300 others(2): Show |
5 | 328 | 0.0152 | 5 | c.402 others(21): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3/15 | chr8 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33032440 | G | GTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01074.hp2 HG01175.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0035 a0001c0001t0006g0027 a0001c0001t0007g0228 others(7): Show |
10 | 68 | 0.1471 | 5 | c.988 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33037522 | G | GCGCAC | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00741.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0003g0022 a0001c0001t0003g0032 a0001c0001t0003g0035 others(30): Show |
33 | 238 | 0.1387 | 5 | c.988 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33068528 | T | TCAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0003g0011 a0001c0001t0003g0022 a0001c0001t0003g0026 others(90): Show |
93 | 144 | 0.6458 | 5 | c.987 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33087575 | G | GTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01167.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(10): Show | a0001c0001t0003g0045 a0001c0001t0004g0070 a0001c0001t0011g0002 others(13): Show |
17 | 104 | 0.1635 | 5 | c.987 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33123892 | G | GTGTGT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0022others(2): Show | a0001c0001t0003g0012 a0001c0001t0006g0017 a0001c0001t0022g0071 others(2): Show |
5 | 238 | 0.0210 | 5 | c.709 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33150849 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG00738.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0003g0037 a0001c0001t0003g0045 a0001c0001t0003g0046 others(20): Show |
23 | 143 | 0.1608 | 5 | c.709 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232406 | A | AATGGT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01192.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0003g0044 a0001c0001t0004g0031 a0001c0001t0004g0042 others(16): Show |
19 | 236 | 0.0805 | 5 | c.708 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232446 | A | AATGGT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0003g0040 a0001c0001t0003g0045 a0001c0001t0003g0053 others(75): Show |
79 | 167 | 0.4731 | 5 | c.708 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34267459 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01361.hp2 HG02080.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0070 a0001c0001t0002g0194 others(4): Show |
7 | 177 | 0.0395 | 5 | c.223 others(22): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1627633 | C | CGAAAT | intron_variant | MODIFIER | HG01257.hp1 HG01516.hp2 HG01934.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0043 others(9): Show |
12 | 94 | 0.1277 | 5 | c.375 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1633642 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG02818.hp1 HG03669.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0061 a0001c0001t0002g0151 a0002c0002t0002g0155 others(2): Show |
5 | 148 | 0.0338 | 5 | c.787 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29904126 | G | GAATAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(115): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(20): Show |
118 | 382 | 0.3089 | 5 | c.950 others(20): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26435710 | T | TAAAAG | intron_variant | MODIFIER | HG00733.hp1 HG01175.hp1 HG01192.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0029 a0001c0001t0002g0060 a0001c0001t0002g0076 others(15): Show |
26 | 80 | 0.3250 | 5 | c.886 others(22): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26441478 | T | TTAAAA | intron_variant | MODIFIER | NA18953.hp2 NA18956.hp2 NA18959.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0004c0009t0002 | a0001c0001t0002g0057 a0001c0001t0002g0076 a0001c0001t0002g0173 others(3): Show |
7 | 55 | 0.1273 | 5 | c.887 others(20): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26441922 | C | CAAACA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(385): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(203): Show |
388 | 426 | 0.9108 | 5 | c.887 others(20): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61626733 | T | TTAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(193): Show |
196 | 256 | 0.7656 | 5 | c.934 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197140610 | C | CAGTAT | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02965.hp1 others(1): Show |
a0016a0017 | a0016c0025a0017c0024 | a0016c0025t0004a0017c0024t0004 | a0016c0025t0004g0024 a0017c0024t0004g0088 a0017c0024t0004g0089 |
4 | 294 | 0.0136 | 5 | c.192 others(22): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 3/27 | chr1 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62333423 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02004.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0005g0357 a0001c0001t0007g0311 a0001c0001t0007g0312 others(16): Show |
19 | 55 | 0.3455 | 5 | c.-42 others(16): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4024 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62338932 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01168.hp1 HG02135.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(10): Show |
13 | 15 | 0.8667 | 5 | c.190 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62357224 | C | CTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(148): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0017 others(144): Show |
151 | 168 | 0.8988 | 5 | c.491 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362561 | T | TATAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(34): Show |
37 | 350 | 0.1057 | 5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362633 | A | ATATAT | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01978.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0030 | a0001c0001t0002g0191 a0001c0001t0002g0264 a0001c0001t0002g0267 others(11): Show |
14 | 368 | 0.0380 | 5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62382929 | T | TCAACA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0311 a0001c0001t0007g0312 a0001c0001t0007g0315 others(14): Show |
17 | 368 | 0.0462 | 5 | c.492 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176897274 | C | CAAAAA | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0005a0001c0009a0001c0012 | a0001c0005t0004a0001c0009t0004a0001c0009t0005others(1): Show | a0001c0005t0004g0072 a0001c0005t0004g0076 a0001c0005t0004g0084 others(5): Show |
8 | 81 | 0.0988 | 5 | c.267 others(24): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176979686 | G | GAAAAC | intron_variant | MODIFIER | HG01192.hp1 HG01978.hp2 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0018a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0018g0053 a0001c0002t0001g0008 a0001c0002t0002g0108 others(18): Show |
21 | 110 | 0.1909 | 5 | c.152 others(26): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116463908 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01261.hp2 HG01496.hp2 others(8): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0001t0003g0062 a0001c0002t0003g0021 a0001c0002t0003g0041 others(8): Show |
11 | 76 | 0.1447 | 5 | c.349 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116521134 | C | CACAGA | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0095 others(18): Show |
21 | 100 | 0.2100 | 5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116562380 | T | TTCTCG | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0095 others(17): Show |
20 | 100 | 0.2000 | 5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116578667 | T | TGTGTG | intron_variant | MODIFIER | HG01099.hp2 HG01496.hp1 HG01934.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0004a0001c0003t0002 | a0001c0001t0003g0090 a0001c0002t0004g0029 a0001c0003t0002g0044 |
3 | 99 | 0.0303 | 5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116632205 | A | AGAGAG | intron_variant | MODIFIER | HG01515.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0018 a0001c0002t0001g0057 |
2 | 32 | 0.0625 | 5 | c.307 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116694459 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01169.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0099 others(12): Show |
15 | 33 | 0.4545 | 5 | c.280 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116778398 | A | ATTTAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(81): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(81): Show |
84 | 100 | 0.8400 | 5 | c.239 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116833011 | C | CTGGAT | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01099.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0100 a0001c0001t0002g0050 a0001c0001t0003g0013 others(36): Show |
39 | 100 | 0.3900 | 5 | c.204 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116836570 | A | AGTTTT | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0012a0001c0013 | a0001c0001t0001a0001c0012t0001a0001c0013t0009 | a0001c0001t0001g0028 a0001c0012t0001g0098 a0001c0013t0009g0072 |
3 | 59 | 0.0508 | 5 | c.204 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116933979 | C | CTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0012others(1): Show | a0001c0001t0001g0100 a0001c0003t0001g0038 a0001c0003t0012g0001 others(1): Show |
4 | 15 | 0.2667 | 5 | c.188 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116946936 | C | CAAAAA | intron_variant | MODIFIER | HG01496.hp1 HG03239.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0005g0096 a0001c0002t0002g0058 a0001c0002t0008g0024 others(1): Show |
4 | 12 | 0.3333 | 5 | c.188 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117005080 | A | ATTTTT | intron_variant | MODIFIER | HG01081.hp1 HG02809.hp2 HG03540.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0019 | a0001c0001t0001a0001c0001t0009a0001c0003t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0009g0086 a0001c0003t0003g0030 others(2): Show |
5 | 18 | 0.2778 | 5 | c.159 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016613 | T | TGTTAC | intron_variant | MODIFIER | HG01099.hp2 HG02698.hp2 HG02922.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0020 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0003g0090 others(3): Show |
6 | 100 | 0.0600 | 5 | c.142 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016633 | T | TGTTAC | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01081.hp2 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0053 others(22): Show |
25 | 100 | 0.2500 | 5 | c.142 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016637 | T | TGTTAC | intron_variant | MODIFIER | HG00735.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0099 a0001c0007t0001g0011 |
2 | 100 | 0.0200 | 5 | c.142 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016645 | T | TGTTAC | intron_variant | MODIFIER | HG00099.hp2 HG01169.hp2 HG01243.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0009others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0060 others(8): Show |
11 | 88 | 0.1250 | 5 | c.142 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117033451 | T | TATGAG | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01243.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0002g0018 others(17): Show |
20 | 100 | 0.2000 | 5 | c.142 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117094183 | G | GGAGGA | intron_variant | MODIFIER | HG00639.hp1 HG02886.hp1 HG02896.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0007a0001c0003t0004a0001c0003t0005others(2): Show | a0001c0001t0007g0078 a0001c0003t0004g0085 a0001c0003t0005g0082 others(2): Show |
5 | 64 | 0.0781 | 5 | c.127 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar |