| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RABL6_chr9_136802948_136846187 | 136802952 | C | CCCAGGGC others(537): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 330 | 0.0030 | 544 | c.-52 others(555): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4995 | chr9 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136802964 | C | CCTCTTGG others(537): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 330 | 0.0030 | 544 | c.-52 others(555): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4983 | chr9 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(537): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0045 | 1 | 218 | 0.0046 | 544 | c.80+ others(561): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RNF213_chr17_80255852_80403794 | 80274675 | G | GGGTGAGT others(537): Show |
intron_variant | MODIFIER | NA19070.hp1 NA19070.hp2 |
a0075a0078 | a0075c0070a0078c0079 | a0075c0070t0009a0078c0079t0001 | a0075c0070t0009g0123a0078c0079t0001g0122 | 2 | 292 | 0.0069 | 544 | c.261 others(561): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 355853 | A | ACACACAC others(537): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0122 | 1 | 133 | 0.0075 | 544 | c.-33 others(555): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3047 | chr17 | TogoVar | ||||||
| RYK_chr3_134152133_134255859 | 134192441 | C | CAAAAAGT others(537): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082a0001c0001t0002g0090 | 2 | 376 | 0.0053 | 544 | c.890 others(559): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 7/14 | chr3 | TogoVar | ||||||
| RYK_chr3_134152133_134255859 | 134192441 | C | CAAAAAGT others(537): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076a0001c0001t0002g0091 | 2 | 376 | 0.0053 | 544 | c.890 others(559): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 7/14 | chr3 | TogoVar | ||||||
| SH3BP5_chr3_15249353_15337586 | 15272527 | C | CTAAAGAC others(537): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 376 | 0.0027 | 544 | c.331 others(561): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 410987 | A | AGGGGGGT others(537): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 242 | 0.0041 | 544 | c.-15 others(561): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 116947134 | A | AAATTATT others(537): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0155 | 1 | 366 | 0.0027 | 544 | c.454 others(561): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
| SLC10A7_chr4_146248981_146526940 | 146286225 | T | TGTTTGGA others(537): Show |
intron_variant | MODIFIER | HG01070.hp2 HG03486.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0045a0001c0001t0003g0073others(1): Show | 4 | 244 | 0.0164 | 544 | c.774 others(561): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
| SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(537): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0032 | 1 | 222 | 0.0045 | 544 | c.914 others(563): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
| SLC6A3_chr5_1387794_1450440 | 1422670 | C | CCACAGTG others(537): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0024 | 1 | 373 | 0.0027 | 544 | c.654 others(559): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | ||||||
| SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(537): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 340 | 0.0029 | 544 | c.*17 others(563): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965110 | A | ACCCCAGT others(537): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 190 | 0.0053 | 544 | c.72+ others(561): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(537): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02300.hp2 |
a0002a0012 | a0002c0003a0012c0019 | a0002c0003t0001a0012c0019t0001 | a0002c0003t0001g0158a0012c0019t0001g0159 | 2 | 190 | 0.0105 | 544 | c.72+ others(561): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24190020 | C | CATATAAT others(537): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0123 | 1 | 356 | 0.0028 | 544 | c.-11 others(565): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24190154 | T | TATAATGA others(537): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0174 | 1 | 356 | 0.0028 | 544 | c.-11 others(565): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(537): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0022 | a0003c0022t0001 | a0003c0022t0001g0189 | 1 | 364 | 0.0028 | 544 | c.157 others(563): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48620601 | A | ACCCATCC others(537): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0208 | 1 | 258 | 0.0039 | 544 | c.113 others(563): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBC1D22A_chr22_46757650_47180693 | 46772609 | T | TATATATG others(537): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0006 | 1 | 112 | 0.0089 | 544 | c.62+ others(559): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82905452 | C | CGGGTGCG others(537): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01361.hp2 |
a0002 | a0002c0008 | a0002c0008t0019 | a0002c0008t0019g0146a0002c0008t0019g0147 | 2 | 318 | 0.0063 | 544 | c.180 others(561): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82905452 | C | CGGGTGCG others(537): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0033 | a0002c0007t0033g0136 | 1 | 318 | 0.0031 | 544 | c.180 others(561): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82905477 | T | TCGTCCGT others(537): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0149 | 1 | 318 | 0.0031 | 544 | c.180 others(561): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82905477 | T | TCGTCCGT others(537): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01261.hp2 others(8): Show |
a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0140a0002c0008t0007g0148a0002c0008t0007g0150others(8): Show | 11 | 318 | 0.0346 | 544 | c.180 others(561): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82905749 | T | TCGTCCGT others(537): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 |
a0002 | a0002c0007 | a0002c0007t0020 | a0002c0007t0020g0045a0002c0007t0020g0138 | 2 | 318 | 0.0063 | 544 | c.180 others(561): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TCF25_chr16_89868592_89916379 | 89884901 | C | CCCTCTCC others(537): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 300 | 0.0033 | 544 | c.429 others(559): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TECPR1_chr7_98209624_98257232 | 98243001 | T | TCCATCCA others(537): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0152 | 1 | 346 | 0.0029 | 544 | c.657 others(559): Show |
TECPR1 | ENSG00000205356.10 | transcript | ENST00000447648.7 | protein_coding | 6/25 | chr7 | TogoVar | ||||||
| THBS2_chr6_169210785_169258846 | 169242718 | T | TTCCCACC others(537): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0255 | 1 | 396 | 0.0025 | 544 | c.695 others(559): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
| TH_chr11_2158929_2176815 | 2161747 | C | CGGGACCC others(537): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0026 | 1 | 388 | 0.0026 | 544 | c.*24 others(555): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2181 | chr11 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747391 | G | GCTGGGGT others(537): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 314 | 0.0032 | 544 | c.189 others(559): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM242_chr6_157284025_157328519 | 157312747 | T | TAGCTTCA others(537): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0318 | 1 | 344 | 0.0029 | 544 | c.327 others(561): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157312747 | T | TAGCTTCA others(537): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0274a0001c0001t0008g0315a0001c0001t0008g0316others(1): Show | 4 | 344 | 0.0116 | 544 | c.327 others(561): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACATA others(537): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0299 | 1 | 388 | 0.0026 | 544 | c.-23 others(561): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TRIM28_chr19_58539064_58555715 | 58541411 | G | GATTCTCC others(537): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 402 | 0.0025 | 544 | c.-33 others(555): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 2652 | chr19 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(537): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 272 | 0.0037 | 544 | c.*29 others(555): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(537): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 334 | 0.0030 | 544 | c.657 others(559): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(537): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0079 | 1 | 334 | 0.0030 | 544 | c.657 others(559): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870406 | A | ACCCCACA others(537): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 338 | 0.0030 | 544 | c.*35 others(563): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870413 | A | ACACACAC others(537): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 338 | 0.0030 | 544 | c.*35 others(563): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870460 | A | ACACCCCA others(537): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 338 | 0.0030 | 544 | c.*35 others(563): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ZNF354C_chr5_179055373_179088977 | 179088780 | T | TAAGAATT others(537): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 440 | 0.0023 | 544 | c.*86 others(555): Show |
ZNF354C | ENSG00000177932.7 | transcript | ENST00000315475.7 | protein_coding | 4804 | chr5 | TogoVar | ||||||
| ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACATTG others(538): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0084a0002c0009t0001g0085 | 2 | 182 | 0.0110 | 545 | c.505 others(564): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
| ARHGAP22_chr10_48441036_48610073 | 48510449 | T | TAAGAAAG others(538): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 270 | 0.0037 | 545 | c.323 others(564): Show |
ARHGAP22 | ENSG00000128805.15 | transcript | ENST00000249601.9 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 374880 | G | GAGGGAGG others(538): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 184 | 0.0054 | 545 | c.784 others(560): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| C2CD4C_chr19_400445_414147 | 404220 | T | TGGAGGGG others(538): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 322 | 0.0031 | 545 | c.*28 others(556): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1224 | chr19 | TogoVar | ||||||
| C4orf50_chr4_5954375_6023431 | 6004446 | G | GTGATGAT others(538): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0036 | a0036c0040 | a0036c0040t0000 | a0036c0040t0000g0323 | 1 | 346 | 0.0029 | 545 | c.963 others(562): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 138126885 | C | CCCCGGCC others(538): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0131a0001c0003t0010g0132a0001c0003t0010g0134others(1): Show | 4 | 248 | 0.0161 | 545 | c.*48 others(556): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2267 | chr9 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTAT others(538): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 362 | 0.0028 | 545 | c.-50 others(556): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
| CCDC198_chr14_57464300_57498857 | 57498800 | G | GTGTGTAT others(538): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0176 | 1 | 362 | 0.0028 | 545 | c.-50 others(556): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar |