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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK2_chr11_1384934_1467689 | 1430190 | T | TCAGCAGT others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0004 | 2 | 360 | 0.0056 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430257 | C | CGGTCTGG others(42): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 360 | 0.0028 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430519 | C | CCAGCAGT others(42): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG01515.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0003a0001c0001t0004a0002c0002t0005others(3): Show | a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0004g0051 others(5): Show |
8 | 360 | 0.0222 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430756 | T | TCAGCAGT others(42): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02129.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(2): Show | a0001c0001t0001g0168 a0001c0001t0004g0121 a0001c0001t0025g0143 others(2): Show |
5 | 360 | 0.0139 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570773 | G | GGGGGTGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 306 | 0.0033 | 49 | c.-18 others(60): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1822 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 585444 | A | AGGGGTGC others(42): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0022 | 1 | 306 | 0.0033 | 49 | c.*27 others(60): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1952 | chr19 | TogoVar | |||||||
BSX_chr11_122972570_122986834 | 122983523 | G | GAAAGAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 422 | 0.0024 | 49 | c.-18 others(60): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1690 | chr11 | TogoVar | |||||||
C12orf54_chr12_48477498_48501524 | 48500574 | A | ACCTCCCG others(42): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(28): Show |
121 | 436 | 0.2775 | 49 | c.*44 others(60): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 4051 | chr12 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37390304 | T | TTTTATAT others(42): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 441 | 0.0023 | 49 | c.750 others(64): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C22orf23_chr22_37938050_37958601 | 37943424 | A | ATAGGGGA others(42): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0045 | 1 | 374 | 0.0027 | 49 | c.*75 others(58): Show |
C22orf23 | ENSG00000128346.11 | transcript | ENST00000403305.6 | protein_coding | 7/7 | 750 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145659 | T | TTATTATA others(42): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0035 | 1 | 398 | 0.0025 | 49 | c.*38 others(60): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3346 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(42): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0009 | 1 | 398 | 0.0025 | 49 | c.*16 others(60): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74066264 | A | AGGAGGGG others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(293): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0030a0002c0003others(42): Show | a0001c0001t0001a0001c0030t0001a0002c0003t0001others(44): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0029 others(292): Show |
296 | 318 | 0.9308 | 49 | c.495 others(68): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 24/32 | chr11 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410883 | G | GTCTGTCC others(42): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 322 | 0.0031 | 49 | c.-19 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1737 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410967 | C | CGCCCCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 NA18960.hp1 NA18997.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0037 | a0001c0002t0002g0003 a0001c0002t0037g0059 |
3 | 322 | 0.0093 | 49 | c.-20 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1821 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410971 | C | CCTGCTGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0093 | 1 | 322 | 0.0031 | 49 | c.-20 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1825 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411004 | C | CGCCCCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 NA18943.hp1 NA18957.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 3 | 322 | 0.0093 | 49 | c.-20 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1858 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411078 | C | CGCCCCTG others(42): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0165 | 1 | 322 | 0.0031 | 49 | c.-21 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1932 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411091 | C | CCCGAGCT others(42): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 322 | 0.0031 | 49 | c.-21 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1945 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6689374 | T | TCTCTGTC others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0066 | 1 | 370 | 0.0027 | 49 | c.348 others(68): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6689374 | T | TCTGTCTC others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0344 | 1 | 370 | 0.0027 | 49 | c.348 others(68): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6689374 | T | TGTCTCTC others(42): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0357 | 1 | 370 | 0.0027 | 49 | c.348 others(68): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | |||||||
C4BPB_chr1_207083860_207104993 | 207098959 | A | ATCTCATC others(42): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 388 | 0.0026 | 49 | c.619 others(64): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016503 | G | GCACACGC others(42): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0099 a0001c0001t0003g0205 a0001c0001t0003g0239 others(3): Show |
6 | 326 | 0.0184 | 49 | c.130 others(66): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1038661 | G | GGGTCAGC others(42): Show |
intron_variant | MODIFIER | HG02965.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 a0001c0001t0002g0299 |
2 | 326 | 0.0061 | 49 | c.130 others(68): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1038661 | G | GGGTCAGC others(42): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(106): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0099 a0001c0001t0002g0208 a0001c0001t0002g0209 others(106): Show |
109 | 326 | 0.3344 | 49 | c.130 others(68): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1038661 | G | GGGTCAGC others(42): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0305 | 1 | 326 | 0.0031 | 49 | c.130 others(68): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1090533 | T | TGGGACCC others(42): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 326 | 0.0031 | 49 | c.129 others(68): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CACFD1_chr9_133454978_133475848 | 133460465 | G | GGGGGGCG others(42): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 420 | 0.0024 | 49 | c.121 others(64): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137972169 | G | GGGGCCAG others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02976.hp1 NA20752.hp2 |
a0004a0006 | a0004c0023a0006c0024 | a0004c0023t0008a0006c0024t0011 | a0004c0023t0008g0077 a0006c0024t0011g0160 a0006c0024t0011g0162 |
3 | 248 | 0.0121 | 49 | c.154 others(66): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 11/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(42): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03688.hp1 |
a0005a0009 | a0005c0056a0009c0076 | a0005c0056t0038a0009c0076t0006 | a0005c0056t0038g0224 a0009c0076t0006g0142 |
2 | 338 | 0.0059 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(42): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0144 | 1 | 338 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(42): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 NA18954.hp2 |
a0002a0004a0054 | a0002c0039a0004c0006a0054c0042 | a0002c0039t0003a0004c0006t0001a0054c0042t0003 | a0002c0039t0003g0229 a0004c0006t0001g0301 a0054c0042t0003g0230 |
3 | 338 | 0.0089 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(42): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0223 | 1 | 338 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(42): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
a0002a0013a0015 | a0002c0010a0013c0026a0015c0017 | a0002c0010t0001a0013c0026t0003a0015c0017t0003 | a0002c0010t0001g0019 a0013c0026t0003g0109 a0015c0017t0003g0107 others(2): Show |
5 | 338 | 0.0148 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185703 | T | TCGGCATG others(42): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0108 | a0002c0108t0027 | a0002c0108t0027g0104 | 1 | 338 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185711 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0022 | a0022c0066 | a0022c0066t0025 | a0022c0066t0025g0232 | 1 | 338 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185711 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG02080.hp2 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0007a0002c0025others(3): Show | a0001c0001t0001a0002c0007t0003a0002c0025t0001others(4): Show | a0001c0001t0001g0231 a0001c0001t0001g0292 a0001c0001t0001g0307 others(9): Show |
12 | 338 | 0.0355 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185738 | G | GGGGCAGG others(42): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0144 | 1 | 338 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185766 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG02027.hp2 others(12): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0007a0004c0006others(3): Show | a0001c0001t0001a0002c0007t0003a0004c0006t0001others(4): Show | a0001c0001t0001g0231 a0001c0001t0001g0292 a0001c0001t0001g0302 others(12): Show |
15 | 338 | 0.0444 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185766 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0059 | a0005c0059t0003 | a0005c0059t0003g0020 | 1 | 338 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185820 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03453.hp1 |
a0002a0044 | a0002c0002a0044c0130 | a0002c0002t0026a0044c0130t0004 | a0002c0002t0026g0241 a0044c0130t0004g0309 |
2 | 338 | 0.0059 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185820 | C | CATAGGGC others(42): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0007others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0007t0003others(10): Show | a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0231 others(21): Show |
24 | 338 | 0.0710 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185836 | G | GGGGTGTG others(42): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0050 | a0050c0128 | a0050c0128t0040 | a0050c0128t0040g0014 | 1 | 338 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1191190 | C | CTCTGACC others(42): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0051 | a0051c0061 | a0051c0061t0002 | a0051c0061t0002g0330 | 1 | 338 | 0.0030 | 49 | c.300 others(66): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199325 | T | TCATGGCT others(42): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG02922.hp1 others(3): Show |
a0002a0003a0047others(1): Show | a0002c0011a0003c0068a0047c0069others(1): Show | a0002c0011t0001a0002c0011t0002a0003c0068t0004others(2): Show | a0002c0011t0001g0289 a0002c0011t0002g0201 a0002c0011t0002g0203 others(3): Show |
6 | 338 | 0.0178 | 49 | c.803 others(64): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199391 | T | TGCGGTCG others(42): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02738.hp1 |
a0038a0057 | a0038c0119a0057c0120 | a0038c0119t0001a0057c0120t0037 | a0038c0119t0001g0313 a0057c0120t0037g0067 |
2 | 338 | 0.0059 | 49 | c.803 others(64): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39653035 | T | TCCCCCCA others(42): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0157 a0001c0018t0002g0158 |
2 | 236 | 0.0085 | 49 | c.199 others(68): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39653046 | G | GGTGGCTA others(42): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0004 | a0004c0006 | a0004c0006t0016 | a0004c0006t0016g0191 | 1 | 236 | 0.0042 | 49 | c.199 others(68): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39653144 | A | AGTGGCTA others(42): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0049 | a0004c0049t0040 | a0004c0049t0040g0182 | 1 | 236 | 0.0042 | 49 | c.199 others(68): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |