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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(946): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 132 | 0.0076 | 953 | c.94- others(966): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(946): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 132 | 0.0076 | 953 | c.94- others(966): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(946): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0106 | 1 | 132 | 0.0076 | 953 | c.94- others(966): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930023 | C | CCCCCACT others(946): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 257 | 0.0039 | 953 | c.180 others(972): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(946): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 213 | 0.0047 | 953 | c.250 others(968): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189475 | A | ATATAAAA others(946): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0011 | a0011c0020 | a0011c0020t0025 | a0011c0020t0025g0083 | 1 | 263 | 0.0038 | 953 | c.-5+ others(968): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(946): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 | 1 | 210 | 0.0048 | 953 | c.-5+ others(968): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(946): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0280 | 1 | 210 | 0.0048 | 953 | c.-5+ others(968): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(946): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 a0001c0001t0001g0264 |
2 | 211 | 0.0095 | 953 | c.-5+ others(968): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(946): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02523.hp2 NA19070.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0003t0003g0205 |
3 | 244 | 0.0123 | 953 | c.-5+ others(968): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(946): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 295 | 0.0034 | 953 | c.-5+ others(968): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(946): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0208 a0001c0001t0019g0157 a0001c0001t0019g0158 |
3 | 297 | 0.0101 | 953 | c.-5+ others(968): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCTCCTC others(946): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0107 | 1 | 206 | 0.0049 | 953 | c.433 others(970): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116044 | T | TCAAGCAT others(946): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0122 | 1 | 346 | 0.0029 | 953 | c.307 others(970): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(946): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 34 | 0.0294 | 953 | c.299 others(968): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(946): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0195 | 1 | 24 | 0.0417 | 953 | c.371 others(970): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(946): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0052 | a0052c0039 | a0052c0039t0001 | a0052c0039t0001g0003 | 1 | 24 | 0.0417 | 953 | c.371 others(970): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(946): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0068 | a0001c0068t0001 | a0001c0068t0001g0210 | 1 | 24 | 0.0417 | 953 | c.371 others(970): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(946): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 67 | 0.0149 | 953 | c.306 others(972): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(946): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 253 | 0.0040 | 953 | c.66+ others(968): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(946): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0201 a0001c0001t0009g0202 |
2 | 268 | 0.0075 | 953 | c.66+ others(968): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(946): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0270 a0001c0001t0010g0271 |
2 | 241 | 0.0083 | 953 | c.66+ others(968): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(946): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 195 | 0.0051 | 953 | c.347 others(968): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(946): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 100 | 0.0100 | 953 | c.45- others(968): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(946): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0016 | a0002c0016t0009 | a0002c0016t0009g0066 | 1 | 42 | 0.0238 | 953 | c.916 others(970): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(946): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0267 | 1 | 160 | 0.0063 | 953 | c.101 others(970): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(946): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 285 | 0.0035 | 953 | c.199 others(970): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(946): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03831.hp1 HG03831.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0004 a0001c0001t0004g0236 a0001c0001t0004g0240 others(1): Show |
8 | 269 | 0.0297 | 953 | c.199 others(970): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(946): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0237 | 1 | 262 | 0.0038 | 953 | c.199 others(970): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(946): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0238 | 1 | 262 | 0.0038 | 953 | c.199 others(970): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(946): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0245 | 1 | 262 | 0.0038 | 953 | c.199 others(970): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(946): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 262 | 0.0038 | 953 | c.199 others(970): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(946): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0232 |
4 | 265 | 0.0151 | 953 | c.199 others(970): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41474722 | A | GGGTGAGG others(946): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02083.hp1 |
a0002 | a0002c0006a0002c0007 | a0002c0006t0003a0002c0007t0003 | a0002c0006t0003g0266 a0002c0007t0003g0015 |
2 | 303 | 0.0066 | 953 | c.728 others(970): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028864 | C | CCCCATCA others(946): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0019 | a0019c0026 | a0019c0026t0001 | a0019c0026t0001g0022 | 1 | 199 | 0.0050 | 953 | c.225 others(972): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028975 | C | CCCCACAC others(946): Show |
intron_variant | MODIFIER | HG03688.hp2 HG03834.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0031 a0005c0005t0001g0140 |
2 | 202 | 0.0099 | 953 | c.225 others(972): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871138 | C | CCACACAC others(946): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0238 |
2 | 247 | 0.0081 | 953 | c.*35 others(972): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(946): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 35 | 0.0286 | 953 | c.*35 others(972): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169829 | T | TCCCTCCC others(946): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0007 | 1 | 96 | 0.0104 | 953 | c.*20 others(962): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 114 | chrX | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(947): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0032a0001c0002t0039a0001c0002t0048others(5): Show | a0001c0002t0032g0120 a0001c0002t0039g0172 a0001c0002t0039g0173 others(7): Show |
10 | 22 | 0.4545 | 954 | c.*23 others(965): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(947): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0008 | a0001c0008t0028 | a0001c0008t0028g0100 a0001c0008t0028g0101 |
2 | 14 | 0.1429 | 954 | c.*23 others(965): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(947): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0084 | a0001c0002t0084g0129 | 1 | 13 | 0.0769 | 954 | c.*23 others(965): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45224538 | C | CAGGGCGG others(947): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0121 | 1 | 348 | 0.0029 | 954 | c.*23 others(965): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | chr21 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349921 | C | CAGGGGAA others(947): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 283 | 0.0035 | 954 | c.838 others(969): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349921 | C | CAGGGGAA others(947): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 283 | 0.0035 | 954 | c.838 others(969): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGAGAA others(947): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142 | 1 | 134 | 0.0075 | 954 | c.838 others(969): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687192 | C | CCCCCGTG others(947): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 211 | 0.0047 | 954 | c.-15 others(965): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1347 | chr8 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200750 | T | TGGAGGTG others(947): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 251 | 0.0040 | 954 | c.955 others(971): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(947): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0041 | a0041c0051 | a0041c0051t0001 | a0041c0051t0001g0295 | 1 | 103 | 0.0097 | 954 | c.300 others(971): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(947): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 9 | 0.1111 | 954 | c.565 others(971): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar |