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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR1C_chr2_157521767_157633864 | 157554201 | G | GAGAAAAG others(14): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0031 | 1 | 48 | 0.0208 | 21 | c.544 others(38): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147844400 | G | GGCCGCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 NA18969.hp2 NA18987.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 a0001c0002t0001g0048 a0001c0002t0001g0056 |
3 | 314 | 0.0096 | 21 | c.-75 others(30): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 628 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147844409 | T | TGCCGCCG others(14): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 NA19088.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0174 a0001c0002t0001g0088 |
2 | 141 | 0.0142 | 21 | c.-74 others(30): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 619 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54035009 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18967.hp1 NA19091.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0005a0002c0003t0002 | a0001c0002t0002g0058 a0001c0002t0005g0065 a0002c0003t0002g0104 |
3 | 87 | 0.0345 | 21 | c.63- others(38): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54115905 | G | GGGGGGGG others(14): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0220 | 1 | 253 | 0.0040 | 21 | c.278 others(40): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17188863 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01891.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0114 a0001c0001t0001g0119 others(18): Show |
22 | 211 | 0.1043 | 21 | c.973 others(36): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0017 | a0001c0001t0017g0038 a0001c0002t0017g0216 |
2 | 300 | 0.0067 | 21 | c.973 others(36): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0022 | 1 | 299 | 0.0033 | 21 | c.973 others(36): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 299 | 0.0033 | 21 | c.973 others(36): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | |||||||
ADAL_chr15_43325672_43359569 | 43357270 | G | GTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 3 | 0.3333 | 21 | c.*53 others(32): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 2702 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58620660 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0073 | 1 | 280 | 0.0036 | 21 | c.151 others(38): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTCTTT others(14): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0028 | a0001c0001t0007g0312 a0001c0001t0028g0301 |
2 | 9 | 0.2222 | 21 | c.586 others(38): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0044 | 1 | 8 | 0.1250 | 21 | c.586 others(38): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58691676 | C | CTTCTTTT others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0323 | 1 | 154 | 0.0065 | 21 | c.207 others(38): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126082363 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0039 | 1 | 42 | 0.0238 | 21 | c.114 others(42): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 65 | 0.0154 | 21 | c.114 others(40): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01934.hp1 HG02145.hp1 |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0018 | a0001c0003t0004a0002c0001t0014a0003c0018t0004 | a0001c0003t0004g0225 a0002c0001t0014g0102 a0003c0018t0004g0240 |
3 | 67 | 0.0448 | 21 | c.114 others(40): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18989.hp2 NA19002.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0013a0002c0016 | a0001c0004t0019a0001c0013t0001a0002c0016t0001 | a0001c0004t0019g0202 a0001c0013t0001g0216 a0001c0013t0001g0217 others(1): Show |
4 | 68 | 0.0588 | 21 | c.114 others(40): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0098 | 1 | 65 | 0.0154 | 21 | c.114 others(40): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0068 | 1 | 65 | 0.0154 | 21 | c.114 others(40): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9496444 | A | AAAGCAAG others(14): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0041 | 1 | 232 | 0.0043 | 21 | c.178 others(38): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 14/18 | chr2 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39701117 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0117 others(2): Show |
5 | 65 | 0.0769 | 21 | c.190 others(40): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM20_chr14_70517358_70540004 | 70536465 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 HG02257.hp2 HG02735.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0066 others(2): Show |
5 | 40 | 0.1250 | 21 | c.-18 others(32): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 1462 | chr14 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 87982699 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01081.hp2 HG01169.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0085 others(19): Show |
22 | 121 | 0.1818 | 21 | c.323 others(38): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
ADAM23_chr2_206438532_206626127 | 206473572 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0004 a0001c0001t0001g0110 a0001c0001t0001g0133 others(2): Show |
6 | 277 | 0.0217 | 21 | c.433 others(38): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24306351 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0293 | 1 | 278 | 0.0036 | 21 | c.151 others(38): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
ADAM9_chr8_38991973_39110261 | 39098015 | C | CTTCAACT others(14): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 330 | 0.0030 | 21 | c.229 others(40): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 32 | 0.0313 | 21 | c.320 others(38): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8612550 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 55 | 0.0182 | 21 | c.-21 others(32): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1836 | chr19 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33655628 | T | TAATTTAA others(14): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0049 | 1 | 62 | 0.0161 | 21 | c.119 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849057 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0051 | 1 | 220 | 0.0045 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849081 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG03139.hp1 others(2): Show |
a0010a0021a0024others(2): Show | a0010c0055a0021c0051a0024c0057others(2): Show | a0010c0055t0001a0021c0051t0006a0024c0057t0022others(2): Show | a0010c0055t0001g0176 a0021c0051t0006g0172 a0024c0057t0022g0175 others(2): Show |
5 | 222 | 0.0225 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849128 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02809.hp2 |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0004a0003c0005t0007a0004c0007t0007 | a0001c0001t0004g0053 a0003c0005t0007g0051 a0004c0007t0007g0052 |
3 | 216 | 0.0139 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849199 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03139.hp2 |
a0001 | a0001c0008a0001c0024 | a0001c0008t0005a0001c0024t0001 | a0001c0008t0005g0027 a0001c0024t0001g0050 |
2 | 202 | 0.0099 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849224 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp1 others(11): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0036others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(11): Show |
14 | 217 | 0.0645 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849249 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03453.hp2 |
a0010a0026 | a0010c0055a0026c0054 | a0010c0055t0001a0026c0054t0007 | a0010c0055t0001g0176 a0026c0054t0007g0174 |
2 | 216 | 0.0093 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849391 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 220 | 0.0045 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849487 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0201 | 1 | 220 | 0.0045 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849591 | C | CATATGTA others(14): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02895.hp2 HG03486.hp2 others(5): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0009others(4): Show | a0001c0001t0001a0002c0002t0003a0002c0009t0002others(4): Show | a0001c0001t0001g0135 a0001c0001t0001g0167 a0002c0002t0003g0152 others(5): Show |
8 | 146 | 0.0548 | 21 | c.489 others(40): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS15_chr11_130443645_130481645 | 130468939 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0300 | 1 | 280 | 0.0036 | 21 | c.154 others(38): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977400 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0012 | a0003c0012t0044 | a0003c0012t0044g0078 | 1 | 170 | 0.0059 | 21 | c.295 others(40): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100058248 | T | TCCTATCC others(14): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0011 | a0002c0011t0022 | a0002c0011t0022g0103 | 1 | 83 | 0.0120 | 21 | c.213 others(40): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100058321 | C | CTAACCCT others(14): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0081 | 1 | 226 | 0.0044 | 21 | c.213 others(40): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77334727 | A | ATATACTA others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(117): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0016a0002c0007others(32): Show | a0001c0001t0008a0001c0001t0043a0001c0016t0002others(57): Show | a0001c0001t0008g0018 a0001c0001t0043g0288 a0001c0016t0002g0012 others(117): Show |
120 | 271 | 0.4428 | 21 | c.185 others(40): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77334812 | C | CAGTATAT others(14): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0054 | 1 | 323 | 0.0031 | 21 | c.185 others(38): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0045 | 1 | 41 | 0.0244 | 21 | c.187 others(40): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01934.hp1 HG02145.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0116 others(12): Show |
15 | 55 | 0.2727 | 21 | c.187 others(40): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03927.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0158 a0001c0001t0002g0027 a0001c0009t0001g0058 |
3 | 144 | 0.0208 | 21 | c.316 others(40): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19070.hp2 NA19081.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0186 a0001c0003t0001g0214 |
3 | 144 | 0.0208 | 21 | c.316 others(40): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0212 | 1 | 142 | 0.0070 | 21 | c.316 others(40): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | chr5 | TogoVar |