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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALK_chr2_29187774_29926586 | 29422288 | T | TCCTGACT others(6048): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0004 | a0005c0013t0004g0050 | 1 | 78 | 0.0128 | 6055 | c.115 others(6076): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29422288 | T | TCCTGACT others(6048): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0018 | 1 | 78 | 0.0128 | 6055 | c.115 others(6076): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
DDX10_chr11_108660069_108945927 | 108838087 | T | TAAGATAT others(6048): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 317 | 0.0032 | 6055 | c.196 others(6072): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7979380 | C | CAGAAATA others(6048): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0212 | 1 | 405 | 0.0025 | 6055 | c.457 others(6072): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25288005 | T | TAACTTTT others(6048): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0001a0002c0002t0010 | a0001c0001t0010g0160 a0002c0002t0001g0093 a0002c0002t0010g0159 |
3 | 159 | 0.0189 | 6055 | c.100 others(6076): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR158_chr10_25170001_25607229 | 25288005 | T | TAACTTTT others(6048): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 157 | 0.0064 | 6055 | c.100 others(6076): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6048): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0007 | a0007c0016 | a0007c0016t0051 | a0007c0016t0051g0112 | 1 | 111 | 0.0090 | 6055 | c.-12 others(6074): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7385955 | T | TTTATTTA others(6048): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 68 | 0.0147 | 6055 | c.28- others(6074): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7385955 | T | TTTATTTA others(6048): Show |
intron_variant | MODIFIER | HG03490.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0002g0061 |
2 | 232 | 0.0086 | 6055 | c.87+ others(6072): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6048): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0046 | a0046c0109 | a0046c0109t0005 | a0046c0109t0005g0040 | 1 | 128 | 0.0078 | 6055 | c.765 others(6072): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6048): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0005 | a0005c0028 | a0005c0028t0003 | a0005c0028t0003g0086 | 1 | 128 | 0.0078 | 6055 | c.765 others(6072): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6048): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 NA18946.hp1 |
a0001a0004a0030 | a0001c0009a0004c0068a0030c0100 | a0001c0009t0002a0004c0068t0001a0030c0100t0001 | a0001c0009t0002g0132 a0004c0068t0001g0033 a0030c0100t0001g0021 |
3 | 130 | 0.0231 | 6055 | c.765 others(6072): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6048): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0100 | 1 | 128 | 0.0078 | 6055 | c.765 others(6072): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TANC2_chr17_62961235_63432703 | 63204093 | T | TCATTCAT others(6048): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0006 | a0006c0011 | a0006c0011t0009 | a0006c0011t0009g0106 | 1 | 256 | 0.0039 | 6055 | c.769 others(6072): Show |
TANC2 | ENSG00000170921.16 | transcript | ENST00000689528.1 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6048): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0067 | 1 | 62 | 0.0161 | 6055 | c.406 others(6072): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6048): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18747.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042a0001c0001t0045 | a0001c0001t0001g0083 a0001c0001t0042g0162 a0001c0001t0045g0152 |
3 | 64 | 0.0469 | 6055 | c.406 others(6072): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6048): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0145 | 1 | 62 | 0.0161 | 6055 | c.406 others(6072): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6048): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0025 | a0001c0001t0016g0110 a0001c0001t0025g0025 |
2 | 63 | 0.0317 | 6055 | c.406 others(6072): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85527418 | G | GAGGGAGG others(6049): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 88 | 0.0114 | 6056 | c.62- others(6075): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85527418 | G | GAGGGAGG others(6049): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 88 | 0.0114 | 6056 | c.62- others(6075): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
DDX10_chr11_108660069_108945927 | 108838087 | T | TAAGATAT others(6049): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 317 | 0.0032 | 6056 | c.196 others(6073): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6049): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0006 | a0006c0051 | a0006c0051t0016 | a0006c0051t0016g0124 | 1 | 111 | 0.0090 | 6056 | c.-12 others(6075): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6049): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03579.hp1 |
a0001a0032 | a0001c0023a0032c0090 | a0001c0023t0055a0032c0090t0038 | a0001c0023t0055g0120 a0032c0090t0038g0110 |
2 | 112 | 0.0179 | 6056 | c.-12 others(6075): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6049): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0017 | a0017c0020 | a0017c0020t0053 | a0017c0020t0053g0121 | 1 | 111 | 0.0090 | 6056 | c.-12 others(6075): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6049): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0007 | a0004c0007t0012 | a0004c0007t0012g0122 | 1 | 111 | 0.0090 | 6056 | c.-12 others(6075): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6049): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG02818.hp1 others(4): Show |
a0001a0007a0009others(1): Show | a0001c0023a0007c0015a0007c0016others(3): Show | a0001c0023t0050a0007c0015t0012a0007c0016t0012others(3): Show | a0001c0023t0050g0118 a0007c0015t0012g0114 a0007c0015t0012g0116 others(4): Show |
7 | 117 | 0.0598 | 6056 | c.-12 others(6075): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
RGS21_chr1_192311992_192372285 | 192318937 | T | TAAGAGTT others(6049): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 300 | 0.0033 | 6056 | c.-61 others(6073): Show |
RGS21 | ENSG00000253148.1 | transcript | ENST00000417209.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6049): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0081 | a0002c0081t0002 | a0002c0081t0002g0023 | 1 | 128 | 0.0078 | 6056 | c.765 others(6073): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6049): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001a0007a0025 | a0001c0010a0001c0099a0007c0026others(1): Show | a0001c0010t0001a0001c0099t0002a0007c0026t0002others(1): Show | a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0099t0002g0139 others(2): Show |
5 | 132 | 0.0379 | 6056 | c.765 others(6073): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6049): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0082 | a0001c0082t0002 | a0001c0082t0002g0025 | 1 | 128 | 0.0078 | 6056 | c.765 others(6073): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6049): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02647.hp2 HG02717.hp2 |
a0002a0033 | a0002c0088a0002c0119a0033c0066 | a0002c0088t0002a0002c0119t0001a0033c0066t0002 | a0002c0088t0002g0071 a0002c0119t0001g0090 a0033c0066t0002g0004 |
3 | 130 | 0.0231 | 6056 | c.765 others(6073): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33739637 | T | TTATAGTG others(6049): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0089 | a0002c0089t0008 | a0002c0089t0008g0129 | 1 | 128 | 0.0078 | 6056 | c.765 others(6073): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 50/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TRMT10C_chr3_101556868_101571446 | 101560799 | T | TAAGACTG others(6049): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 364 | 0.0027 | 6056 | c.-12 others(6067): Show |
TRMT10C | ENSG00000174173.7 | transcript | ENST00000309922.7 | protein_coding | 1068 | chr3 | TogoVar | |||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6049): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0062a0001c0003t0053 | a0001c0001t0062g0016 a0001c0003t0053g0027 |
2 | 63 | 0.0317 | 6056 | c.406 others(6073): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6049): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 62 | 0.0161 | 6056 | c.406 others(6073): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6049): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03540.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021a0001c0001t0061 | a0001c0001t0006g0093 a0001c0001t0021g0087 a0001c0001t0061g0031 |
3 | 64 | 0.0469 | 6056 | c.406 others(6073): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85527418 | G | GAGGGAGG others(6050): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0106 | 1 | 88 | 0.0114 | 6057 | c.62- others(6076): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
FETUB_chr3_186635399_186658141 | 186654334 | G | GAGAAAAT others(6050): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0033 | 1 | 223 | 0.0045 | 6057 | c.*17 others(6068): Show |
FETUB | ENSG00000090512.12 | transcript | ENST00000265029.8 | protein_coding | 1194 | chr3 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 7979380 | C | CAGAAATA others(6050): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0211 | 1 | 405 | 0.0025 | 6057 | c.457 others(6074): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHL3_chr5_137612500_137741089 | 137679085 | A | AGATAGTA others(6050): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 197 | 0.0051 | 6057 | c.527 others(6074): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6050): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0077 | 1 | 318 | 0.0031 | 6057 | c.283 others(6074): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
PPP1R12B_chr1_202343699_202597702 | 202527085 | C | CAGAAATT others(6050): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0129 | 1 | 251 | 0.0040 | 6057 | c.249 others(6078): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TANC2_chr17_62961235_63432703 | 63204093 | T | TCATTCAT others(6050): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0216 | 1 | 256 | 0.0039 | 6057 | c.769 others(6074): Show |
TANC2 | ENSG00000170921.16 | transcript | ENST00000689528.1 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6050): Show |
intron_variant | MODIFIER | HG03225.hp1 HG06807.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0147 a0001c0003t0006g0106 a0001c0003t0006g0172 |
3 | 64 | 0.0469 | 6057 | c.406 others(6074): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33797438 | T | TAAAATAA others(6051): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0090 | 1 | 207 | 0.0048 | 6058 | c.490 others(6077): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85527418 | G | GAGGGAGG others(6051): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0020 | 1 | 88 | 0.0114 | 6058 | c.62- others(6077): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 45966325 | T | TAAAAACT others(6051): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 338 | 0.0030 | 6058 | c.64- others(6075): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19223372 | T | TAAAAACC others(6051): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0108 | 1 | 327 | 0.0031 | 6058 | c.229 others(6075): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 14/32 | chr22 | TogoVar | |||||||
COMMD1_chr2_61900674_62141058 | 61965817 | T | TAGTTCTT others(6051): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0147 | 1 | 284 | 0.0035 | 6058 | c.181 others(6077): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123871865 | T | TGAATATA others(6051): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0009 | a0009c0019 | a0009c0019t0016 | a0009c0019t0016g0123 | 1 | 111 | 0.0090 | 6058 | c.-12 others(6077): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2/33 | chr3 | TogoVar |