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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CALCOCO2_chr17_48826035_48870245 | 48855362 | G | GCATTACT others(18): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0055 | 1 | 326 | 0.0031 | 25 | c.913 others(40): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48857974 | C | CAATAGAA others(18): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 140 | 0.0071 | 25 | c.100 others(44): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | AAATAGAA others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(39): Show |
a0001a0002a0003 | a0001c0001a0002c0006a0003c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0022others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0156 a0001c0001t0002g0157 others(39): Show |
42 | 103 | 0.4078 | 25 | c.100 others(44): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALM2_chr2_47155084_47181511 | 47167693 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 48 | 0.0208 | 25 | c.34+ others(40): Show |
CALM2 | ENSG00000143933.20 | transcript | ENST00000272298.12 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
CALM2_chr2_47155084_47181511 | 47167814 | C | CCTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02818.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 a0001c0001t0001g0300 |
2 | 63 | 0.0317 | 25 | c.34+ others(40): Show |
CALM2 | ENSG00000143933.20 | transcript | ENST00000272298.12 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 71847719 | G | GAAGAAAG others(18): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02080.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0002g0036 a0001c0001t0002g0074 a0001c0001t0002g0113 others(8): Show |
11 | 102 | 0.1078 | 25 | c.502 others(44): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 71944484 | C | CTTGGGAG others(18): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0103 a0001c0001t0009g0102 |
2 | 142 | 0.0141 | 25 | c.501 others(44): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72016998 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012 | a0001c0001t0009g0029 a0001c0001t0009g0031 a0001c0001t0012g0013 |
3 | 71 | 0.0423 | 25 | c.501 others(42): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72081406 | G | GTGTGTGT others(18): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0123 | 1 | 139 | 0.0072 | 25 | c.388 others(44): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72205551 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0002g0100 others(4): Show |
7 | 58 | 0.1207 | 25 | c.244 others(44): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0042 | 1 | 14 | 0.0714 | 25 | c.244 others(42): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALU_chr7_128734359_128778400 | 128768847 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0073 a0001c0001t0006g0220 |
2 | 169 | 0.0118 | 25 | c.844 others(40): Show |
CALU | ENSG00000128595.17 | transcript | ENST00000249364.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12520943 | A | AGGGAGGG others(18): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0210 | 1 | 148 | 0.0068 | 25 | c.93- others(42): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12595342 | G | GAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204 | 1 | 56 | 0.0179 | 25 | c.224 others(44): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12620186 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18948.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0015 a0001c0002t0008g0205 |
2 | 20 | 0.1000 | 25 | c.225 others(44): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12672901 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03490.hp1 HG03491.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0001t0036others(3): Show | a0001c0001t0001g0071 a0001c0001t0018g0013 a0001c0001t0036g0022 others(4): Show |
7 | 211 | 0.0332 | 25 | c.299 others(42): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694186 | T | TATATTAT others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03490.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0034a0001c0002t0060 | a0001c0001t0002g0171 a0001c0001t0034g0083 a0001c0002t0060g0104 |
3 | 211 | 0.0142 | 25 | c.299 others(44): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44580243 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0177 |
2 | 97 | 0.0206 | 25 | c.377 others(46): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44614936 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03195.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0046 others(2): Show |
5 | 45 | 0.1111 | 25 | c.377 others(44): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 81 | 0.0123 | 25 | c.161 others(42): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATAATTTT others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 13 | 0.0769 | 25 | c.438 others(44): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004330 | G | GCTGGGGG others(18): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0111 | 1 | 353 | 0.0028 | 25 | c.-14 others(44): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02132.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0084 a0001c0001t0003g0226 a0001c0001t0019g0111 |
3 | 108 | 0.0278 | 25 | c.721 others(40): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17406398 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 148 | 0.0068 | 25 | c.-2+ others(42): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17406412 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02818.hp1 |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0001a0005c0015t0001 | a0001c0001t0001g0068 a0001c0001t0001g0092 a0005c0015t0001g0070 |
3 | 177 | 0.0169 | 25 | c.-2+ others(42): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182305 | A | ACACTCAC others(18): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 458 | 0.0022 | 25 | c.193 others(42): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735670 | C | CGCGGGGC others(18): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0249 | 1 | 300 | 0.0033 | 25 | c.158 others(42): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735817 | G | GCGGGCGG others(18): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0278 | 1 | 207 | 0.0048 | 25 | c.158 others(42): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735912 | C | CGGGGCGG others(18): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0022 | a0022c0032 | a0022c0032t0019 | a0022c0032t0019g0174 | 1 | 331 | 0.0030 | 25 | c.158 others(42): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735962 | G | GGGGGCGG others(18): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 196 | 0.0051 | 25 | c.158 others(42): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30758789 | T | TCCTTTCC others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00639.hp1 others(58): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0272 others(54): Show |
61 | 184 | 0.3315 | 25 | c.775 others(40): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30758790 | C | CCTTTCCT others(18): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18982.hp2 NA19078.hp1 |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0005 | a0003c0004t0002g0206 a0003c0004t0002g0293 a0003c0004t0005g0367 |
3 | 382 | 0.0079 | 25 | c.775 others(40): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31210460 | C | CATAAAAT others(18): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0269 | 1 | 26 | 0.0385 | 25 | c.-52 others(42): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544746 | T | TCGCCTCC others(18): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA19043.hp1 |
a0003a0009 | a0003c0033a0009c0020 | a0003c0033t0003a0009c0020t0006 | a0003c0033t0003g0362 a0009c0020t0006g0146 a0009c0020t0006g0147 |
3 | 359 | 0.0084 | 25 | c.-22 others(42): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223741435 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0009 | a0004c0009t0013 | a0004c0009t0013g0335 | 1 | 363 | 0.0028 | 25 | c.308 others(42): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02559.hp2 HG06807.hp1 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0199 a0005c0008t0001g0200 |
2 | 101 | 0.0198 | 25 | c.310 others(42): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77099402 | G | GAGCCGAG others(18): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0311 | 1 | 380 | 0.0026 | 25 | c.297 others(42): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPS2_chr12_75270979_75335324 | 75292614 | T | TATCTATA others(18): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0077 | 1 | 363 | 0.0028 | 25 | c.104 others(42): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 12/16 | chr12 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19416860 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 a0001c0001t0001g0357 |
2 | 31 | 0.0645 | 25 | c.93+ others(40): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933702 | T | TTCTTTCT others(18): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02965.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0010a0001c0044 | a0001c0010t0002a0001c0044t0003 | a0001c0010t0002g0034 a0001c0010t0002g0097 a0001c0010t0002g0188 others(1): Show |
4 | 320 | 0.0125 | 25 | c.151 others(42): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933706 | T | TTCTTTCT others(18): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0001 | 1 | 309 | 0.0032 | 25 | c.151 others(42): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3022935 | A | ATATTTAT others(18): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0001a0001c0028t0001 | a0001c0001t0001g0065 a0001c0028t0001g0301 |
2 | 293 | 0.0068 | 25 | c.-12 others(46): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80165033 | C | CATTTTAT others(18): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01074.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0021others(10): Show | a0001c0001t0007a0001c0007t0002a0001c0021t0008others(11): Show | a0001c0001t0007g0045 a0001c0007t0002g0024 a0001c0021t0008g0047 others(17): Show |
20 | 150 | 0.1333 | 25 | c.-57 others(36): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 4996 | chr17 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01099.hp1 NA18952.hp2 others(1): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0002a0001c0012t0002 | a0001c0002t0002g0001 a0001c0002t0002g0043 a0001c0002t0002g0108 others(1): Show |
4 | 79 | 0.0506 | 25 | c.*31 others(36): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0190 |
2 | 101 | 0.0198 | 25 | c.-7- others(40): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25450912 | T | TTCTCTTC others(18): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03139.hp2 HG03225.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0015a0001c0002t0001a0001c0006t0002others(2): Show | a0001c0001t0015g0182 a0001c0002t0001g0055 a0001c0006t0002g0012 others(2): Show |
5 | 110 | 0.0455 | 25 | c.614 others(40): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459269 | T | TCTTTCTT others(18): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0087 a0001c0001t0007g0134 |
2 | 172 | 0.0116 | 25 | c.615 others(42): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25529755 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 |
a0001a0008 | a0001c0003a0008c0035 | a0001c0003t0023a0008c0035t0004 | a0001c0003t0023g0161 a0008c0035t0004g0028 |
2 | 100 | 0.0200 | 25 | c.206 others(42): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110649931 | C | CTGTTTTT others(18): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18941.hp2 NA18944.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0314 others(1): Show |
4 | 20 | 0.2000 | 25 | c.105 others(44): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40140349 | C | CACACACA others(18): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 233 | 0.0043 | 25 | c.-20 others(34): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 187 | chr17 | TogoVar |