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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR1B_chr2_97650939_97669044 | 97665727 | CTCTCTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 3 | 365 | 0.0082 | -24 | c.-18 others(35): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1684 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665729 | CTCTCTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 2 | 377 | 0.0053 | -24 | c.-18 others(35): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1686 | chr2 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152796860 | GTTTTTTT others(17): Show |
G | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0283 | 1 | 10 | 0.1000 | -24 | c.101 others(41): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | GAGAAAGA others(17): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 NA20805.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0038 | a0001c0002t0001g0063 a0001c0002t0003g0072 a0001c0002t0038g0071 |
3 | 50 | 0.0600 | -24 | c.544 others(41): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147881619 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 336 | 0.0030 | -24 | c.56- others(41): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38460960 | TGAGCATT others(17): Show |
T | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0069 | 1 | 408 | 0.0025 | -24 | c.52+ others(39): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01934.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0136a0001c0001t0137others(6): Show | a0001c0001t0056g0002 a0001c0001t0056g0121 a0001c0001t0136g0143 others(7): Show |
10 | 145 | 0.0690 | -24 | c.*94 others(35): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9449 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492781 | CACACACA others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG01928.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0002g0102 a0001c0001t0008g0080 a0001c0001t0009g0012 others(4): Show |
7 | 408 | 0.0172 | -24 | c.*94 others(35): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9454 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACY3_chr11_67637555_67655730 | 67652205 | AAAATAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0046 | 1 | 31 | 0.0323 | -24 | c.-17 others(35): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1476 | chr11 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54013255 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0006 | 1 | 31 | 0.0323 | -24 | c.63- others(41): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54102638 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(5): Show | a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0002t0002g0007 others(64): Show |
67 | 72 | 0.9306 | -24 | c.278 others(43): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17222472 | GTGTGTAT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG01928.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0041 | a0001c0001t0004g0334 a0001c0001t0041g0328 |
2 | 105 | 0.0190 | -24 | c.-31 others(35): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3038 | chr22 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(98): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 others(98): Show |
101 | 105 | 0.9619 | -24 | c.*43 others(35): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4374 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126049988 | GTGGCTGG others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(174): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0004others(39): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(86): Show | a0001c0002t0001g0031 a0001c0002t0001g0085 a0001c0002t0001g0132 others(174): Show |
177 | 192 | 0.9219 | -24 | c.161 others(41): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126051536 | CCCATCCA others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(69): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0009others(13): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0008others(32): Show | a0001c0002t0001g0031 a0001c0002t0001g0085 a0001c0002t0001g0132 others(69): Show |
72 | 192 | 0.3750 | -24 | c.161 others(43): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086666 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0062 | 1 | 248 | 0.0040 | -24 | c.114 others(43): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126113687 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0190 | 1 | 133 | 0.0075 | -24 | c.604 others(41): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126248669 | GTATGTAT others(17): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG02055.hp1 HG03486.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0015others(2): Show | a0001c0002t0008a0001c0003t0003a0002c0015t0002others(3): Show | a0001c0002t0008g0141 a0001c0003t0003g0193 a0002c0015t0002g0125 others(3): Show |
6 | 192 | 0.0313 | -24 | c.260 others(43): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126387886 | ACCTGGGG others(17): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp2 HG03209.hp2 |
a0002 | a0002c0001a0002c0006a0002c0055 | a0002c0001t0009a0002c0006t0010a0002c0055t0003 | a0002c0001t0009g0020 a0002c0006t0010g0021 a0002c0055t0003g0019 |
3 | 250 | 0.0120 | -24 | c.88+ others(37): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9514518 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01070.hp1 others(33): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0012others(13): Show | a0001c0001t0008g0119 a0001c0001t0008g0121 a0001c0001t0008g0122 others(33): Show |
36 | 44 | 0.8182 | -24 | c.119 others(43): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 10/18 | chr2 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39586755 | ACTATCTA others(17): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01099.hp1 others(2): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0001a0001c0015t0001 | a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 others(2): Show |
5 | 143 | 0.0350 | -24 | c.132 others(41): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39722217 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(80): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0005c0011t0001others(1): Show | a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 others(79): Show |
83 | 142 | 0.5845 | -24 | c.201 others(43): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206570098 | ATGGCACC others(17): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG02155.hp2 NA18963.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211 others(2): Show |
5 | 356 | 0.0140 | -24 | c.149 others(41): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174923519 | TTATATGT others(17): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp2 NA20300.hp2 |
a0001a0004 | a0001c0006a0004c0004 | a0001c0006t0002a0004c0004t0009 | a0001c0006t0002g0035 a0004c0004t0009g0233 a0004c0004t0009g0234 |
3 | 246 | 0.0122 | -24 | c.-45 others(43): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | AATATATA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02630.hp2 HG03516.hp2 NA19043.hp1 others(1): Show |
a0001a0002a0011others(1): Show | a0001c0025a0002c0026a0011c0021others(1): Show | a0001c0025t0012a0002c0026t0002a0011c0021t0012others(1): Show | a0001c0025t0012g0217 a0002c0026t0002g0160 a0011c0021t0012g0213 others(1): Show |
4 | 28 | 0.1429 | -24 | c.*57 others(35): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33835937 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG01069.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 others(25): Show |
28 | 222 | 0.1261 | -24 | c.489 others(43): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33835941 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02165.hp1 others(10): Show |
a0001a0004a0010others(5): Show | a0001c0001a0001c0016a0001c0018others(9): Show | a0001c0001t0001a0001c0016t0001a0001c0018t0008others(9): Show | a0001c0001t0001g0021 a0001c0001t0001g0074 a0001c0016t0001g0208 others(10): Show |
13 | 220 | 0.0591 | -24 | c.489 others(43): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70686128 | CTGCTTTC others(17): Show |
C | intron_variant | MODIFIER | NA19054.hp2 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0082 | 1 | 352 | 0.0028 | -24 | c.522 others(43): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5227505 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp2 HG02965.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0009a0004c0024 | a0002c0002t0028a0004c0009t0009a0004c0009t0040others(1): Show | a0002c0002t0028g0204 a0004c0009t0009g0134 a0004c0009t0040g0135 others(2): Show |
5 | 15 | 0.3333 | -24 | c.170 others(43): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977349 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0009 | a0009c0027 | a0009c0027t0001 | a0009c0027t0001g0196 | 1 | 192 | 0.0052 | -24 | c.295 others(43): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100223724 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02486.hp1 HG02572.hp1 others(1): Show |
a0001a0002a0005 | a0001c0018a0002c0049a0002c0050others(1): Show | a0001c0018t0016a0002c0049t0006a0002c0050t0015others(1): Show | a0001c0018t0016g0223 a0002c0049t0006g0107 a0002c0050t0015g0090 others(1): Show |
4 | 226 | 0.0177 | -24 | c.107 others(45): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77334088 | ATATATTA others(17): Show |
A | intron_variant | MODIFIER | HG01516.hp1 NA18962.hp2 NA19081.hp2 |
a0006a0009 | a0006c0005a0009c0009 | a0006c0005t0036a0009c0009t0001a0009c0009t0014 | a0006c0005t0036g0299 a0009c0009t0001g0286 a0009c0009t0014g0285 |
3 | 324 | 0.0093 | -24 | c.185 others(43): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77436012 | ATGTGTGT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02723.hp1 HG03041.hp1 |
a0001a0004a0024 | a0001c0024a0004c0029a0024c0028 | a0001c0024t0021a0004c0029t0022a0024c0028t0030 | a0001c0024t0021g0304 a0004c0029t0022g0305 a0024c0028t0030g0306 |
3 | 162 | 0.0185 | -24 | c.-13 others(35): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 979 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129702955 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0002a0001c0007t0002a0002c0004t0002 | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0042 others(6): Show |
9 | 222 | 0.0405 | -24 | c.316 others(43): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129733944 | CGTGTGTG others(17): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0010others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0031 others(14): Show |
18 | 24 | 0.7500 | -24 | c.331 others(41): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43514560 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0277 | 1 | 4 | 0.2500 | -24 | c.614 others(43): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277433 | ACCGCCCC others(17): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02109.hp1 HG02630.hp1 others(1): Show |
a0002a0003a0019 | a0002c0010a0002c0109a0003c0030others(1): Show | a0002c0010t0003a0002c0109t0012a0003c0030t0011others(1): Show | a0002c0010t0003g0239 a0002c0109t0012g0203 a0003c0030t0011g0128 others(1): Show |
4 | 176 | 0.0227 | -24 | c.535 others(41): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277541 | GACCAAAG others(17): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0011 a0001c0004t0001g0190 |
2 | 274 | 0.0073 | -24 | c.535 others(41): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179278097 | CACCCCCG others(17): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0055 | 1 | 225 | 0.0044 | -24 | c.535 others(41): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72389911 | TAATGATA others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp2 others(75): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(13): Show | a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0046 others(75): Show |
78 | 180 | 0.4333 | -24 | c.661 others(43): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72450962 | AGGCAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0005 | a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0003t0001g0037 others(2): Show |
5 | 180 | 0.0278 | -24 | c.505 others(43): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72526733 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02004.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0114 a0001c0001t0004g0019 others(8): Show |
11 | 28 | 0.3929 | -24 | c.504 others(43): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550039 | AGAAGAGG others(17): Show |
A | intron_variant | MODIFIER | HG00609.hp1 NA18960.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0063 a0002c0002t0002g0062 |
2 | 165 | 0.0121 | -24 | c.98- others(39): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65230601 | ATATGAAA others(17): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0016 | 1 | 184 | 0.0054 | -24 | c.193 others(43): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65275353 | GAGAAAGA others(17): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01167.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0001g0068 a0001c0001t0001g0146 others(1): Show |
4 | 62 | 0.0645 | -24 | c.151 others(43): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65313128 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG01256.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(19): Show |
22 | 75 | 0.2933 | -24 | c.122 others(45): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65398781 | CAAGAAAG others(17): Show |
C | intron_variant | MODIFIER | NA18522.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0160 a0001c0001t0003g0058 |
2 | 70 | 0.0286 | -24 | c.107 others(45): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0001 | a0002c0001t0028 | a0002c0001t0028g0028 | 1 | 10 | 0.1000 | -24 | c.221 others(43): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18886164 | GTGTATAT others(17): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0005a0001c0055a0002c0001 | a0001c0005t0007a0001c0055t0002a0002c0001t0028 | a0001c0005t0007g0214 a0001c0005t0007g0215 a0001c0055t0002g0209 others(1): Show |
4 | 106 | 0.0377 | -24 | c.425 others(43): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133557957 | GGGGGCTT others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01496.hp2 others(27): Show |
a0001a0004a0005 | a0001c0001a0001c0011a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0043 others(27): Show |
30 | 150 | 0.2000 | -24 | c.164 others(43): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |