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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYBA4_chr22_26616963_26635669 | 26627358 | T | TCCCTCCC others(14): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 402 | 0.0025 | 21 | c.301 others(36): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627640 | C | CTCTCTCT others(14): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 402 | 0.0025 | 21 | c.301 others(36): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAAAGA others(14): Show |
upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 464 | 0.0022 | 21 | c.-91 others(30): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAAAGA others(14): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 464 | 0.0022 | 21 | c.-91 others(30): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAGAGA others(14): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0029 | 1 | 464 | 0.0022 | 21 | c.-91 others(30): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218780 | A | AGAGAGGG others(14): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 464 | 0.0043 | 21 | c.-91 others(30): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 858 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218823 | A | AAAGAAAG others(14): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 464 | 0.0022 | 21 | c.-87 others(30): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 815 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106377621 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19043.hp2 |
a0013a0061 | a0013c0016a0061c0073 | a0013c0016t0001a0061c0073t0004 | a0013c0016t0001g0264a0061c0073t0004g0238 | 2 | 272 | 0.0074 | 21 | c.173 others(40): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106377648 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0035 | a0035c0051 | a0035c0051t0016 | a0035c0051t0016g0225 | 1 | 272 | 0.0037 | 21 | c.173 others(40): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106386635 | T | TAAGGAGC others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00673.hp1 others(37): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0009a0001c0067others(22): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(27): Show | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0030others(37): Show | 40 | 272 | 0.1471 | 21 | c.173 others(40): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(14): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 272 | 0.0037 | 21 | c.174 others(40): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG3_chr3_97817011_97949984 | 97946586 | G | GTTATATA others(14): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0031 | a0031c0031 | a0031c0031t0001 | a0031c0031t0001g0160 | 1 | 316 | 0.0032 | 21 | c.*32 others(32): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1603 | chr3 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG00735.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0002g0004a0001c0001t0002g0031others(10): Show | 21 | 452 | 0.0465 | 21 | c.*17 others(32): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 250 | 0.0040 | 21 | c.634 others(38): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01496.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0179a0001c0003t0001g0006 | 2 | 250 | 0.0080 | 21 | c.634 others(38): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20497456 | T | TATACACA others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00673.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0056a0001c0001t0001g0059others(71): Show | 75 | 250 | 0.3000 | 21 | c.150 others(38): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(147): Show | 159 | 360 | 0.4417 | 21 | c.332 others(38): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | ||||||
CSAG1_chrX_152722484_152738721 | 152729992 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 318 | 0.0031 | 21 | c.17- others(36): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 | 1 | 386 | 0.0026 | 21 | c.-12 others(38): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18986.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0031a0001c0001t0002g0040 | 3 | 386 | 0.0078 | 21 | c.229 others(36): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSF1R_chr5_150048295_150091554 | 150084391 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0224 | 1 | 406 | 0.0025 | 21 | c.49+ others(36): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0362 | 1 | 406 | 0.0025 | 21 | c.49+ others(36): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19485759 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19030.hp1 NA20300.hp2 |
a0003a0014 | a0003c0005a0014c0013 | a0003c0005t0004a0014c0013t0004 | a0003c0005t0004g0077a0003c0005t0004g0157a0014c0013t0004g0220 | 3 | 238 | 0.0126 | 21 | c.634 others(40): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19553639 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 238 | 0.0042 | 21 | c.-29 others(42): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19577401 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0017 | 1 | 238 | 0.0042 | 21 | c.-29 others(42): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19612946 | G | GGAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0017 | 1 | 238 | 0.0042 | 21 | c.-39 others(42): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19666815 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0014 | a0014c0013 | a0014c0013t0004 | a0014c0013t0004g0220 | 1 | 238 | 0.0042 | 21 | c.-39 others(42): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT2_chr10_43133445_43190302 | 43146963 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0048 | 1 | 398 | 0.0025 | 21 | c.-25 others(40): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CSH1_chr17_63889918_63901574 | 63898172 | C | CTCTCTTC others(14): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 428 | 0.0023 | 21 | c.-16 others(32): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1599 | chr17 | TogoVar | ||||||
CSHL1_chr17_63904608_63916258 | 63909428 | A | AGTGATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | 21 | c.*28 others(30): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 179 | chr17 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TCTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 | 1 | 394 | 0.0025 | 21 | c.-66 others(38): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0150 | 1 | 394 | 0.0025 | 21 | c.-66 others(38): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0019a0001c0004t0004g0152 | 5 | 394 | 0.0127 | 21 | c.-66 others(38): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0153 | 1 | 394 | 0.0025 | 21 | c.-66 others(38): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 394 | 0.0025 | 21 | c.-66 others(38): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3155359 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG02129.hp2 |
a0001a0004a0032 | a0001c0007a0004c0056a0032c0011 | a0001c0007t0032a0004c0056t0062a0032c0011t0065 | a0001c0007t0032g0033a0004c0056t0062g0072a0032c0011t0065g0101 | 3 | 126 | 0.0238 | 21 | c.591 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3182841 | G | GGGTGTGT others(14): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0026 | a0001c0026t0006 | a0001c0026t0006g0093 | 1 | 126 | 0.0079 | 21 | c.562 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3311471 | A | AACTCCTG others(14): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02055.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0046a0001c0050others(8): Show | a0001c0002t0028a0001c0046t0073a0001c0050t0053others(8): Show | a0001c0002t0028g0005a0001c0046t0073g0091a0001c0050t0053g0120others(8): Show | 11 | 126 | 0.0873 | 21 | c.363 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3315626 | A | ATGGTAAG others(14): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02129.hp2 HG03669.hp2 |
a0001a0002 | a0001c0001a0001c0007a0002c0091 | a0001c0001t0039a0001c0007t0032a0002c0091t0002 | a0001c0001t0039g0017a0001c0007t0032g0033a0002c0091t0002g0114 | 3 | 126 | 0.0238 | 21 | c.363 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3331237 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0086 | 1 | 126 | 0.0079 | 21 | c.363 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439122 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18522.hp1 |
a0001a0027 | a0001c0020a0027c0023 | a0001c0020t0016a0027c0023t0001 | a0001c0020t0016g0065a0027c0023t0001g0052 | 2 | 126 | 0.0159 | 21 | c.156 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3610476 | A | AGTGAGCT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(72): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0003others(67): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0028others(72): Show | a0001c0001t0002g0102a0001c0001t0039g0017a0001c0002t0028g0005others(72): Show | 75 | 126 | 0.5952 | 21 | c.109 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3643700 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18982.hp1 |
a0004a0025 | a0004c0086a0025c0096 | a0004c0086t0002a0025c0096t0067 | a0004c0086t0002g0118a0025c0096t0067g0116 | 2 | 126 | 0.0159 | 21 | c.101 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3709680 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19043.hp2 NA19240.hp1 |
a0001a0002 | a0001c0050a0001c0085a0002c0054 | a0001c0050t0053a0001c0085t0020a0002c0054t0079 | a0001c0050t0053g0120a0001c0085t0020g0060a0002c0054t0079g0096 | 3 | 126 | 0.0238 | 21 | c.932 others(38): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3926094 | C | CACACACA others(14): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02572.hp1 HG03130.hp1 others(1): Show |
a0001a0017a0032others(1): Show | a0001c0026a0017c0106a0032c0011others(1): Show | a0001c0026t0006a0017c0106t0012a0032c0011t0065others(1): Show | a0001c0026t0006g0093a0017c0106t0012g0042a0032c0011t0065g0101others(1): Show | 4 | 126 | 0.0318 | 21 | c.818 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4201540 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0018 | a0018c0044 | a0018c0044t0064 | a0018c0044t0064g0085 | 1 | 126 | 0.0079 | 21 | c.416 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4441095 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG03710.hp1 |
a0001a0008 | a0001c0006a0001c0108a0008c0008 | a0001c0006t0060a0001c0108t0054a0008c0008t0082 | a0001c0006t0060g0103a0001c0108t0054g0074a0008c0008t0082g0126 | 3 | 126 | 0.0238 | 21 | c.303 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4441107 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0069 | 1 | 126 | 0.0079 | 21 | c.303 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4578332 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 NA18983.hp1 |
a0001a0002 | a0001c0043a0001c0061a0002c0070 | a0001c0043t0031a0001c0061t0001a0002c0070t0046 | a0001c0043t0031g0044a0001c0061t0001g0021a0002c0070t0046g0092 | 3 | 126 | 0.0238 | 21 | c.302 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4841930 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0027 | a0027c0023 | a0027c0023t0001 | a0027c0023t0001g0052 | 1 | 126 | 0.0079 | 21 | c.85+ others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar |