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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1C_chr12_2047987_2702950 | 2280549 | GACCTTGC others(24): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01993.hp1 HG02273.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0015a0001c0002t0001a0001c0003t0008others(1): Show | a0001c0001t0015g0030a0001c0002t0001g0016a0001c0002t0001g0091others(4): Show | 7 | 104 | 0.0673 | -31 | c.477 others(52): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53689258 | ATGGTGAG others(24): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0007a0001c0002t0028a0001c0002t0054others(1): Show | a0001c0002t0007g0006a0001c0002t0028g0198a0001c0002t0054g0005others(1): Show | 4 | 210 | 0.0191 | -31 | c.122 others(52): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT others(24): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0009a0001c0001t0003g0034a0001c0001t0004g0046others(3): Show | 6 | 144 | 0.0417 | -31 | c.527 others(50): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82447994 | GAATTCAG others(24): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 144 | 0.0069 | -31 | c.-45 others(42): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4218 | chr7 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54246558 | TTGCGGCT others(24): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 118 | 0.0085 | -31 | c.205 others(50): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54246559 | TGCGGCTG others(24): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(101): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0010a0001c0001t0001g0016a0001c0001t0001g0024others(101): Show | 104 | 118 | 0.8814 | -31 | c.205 others(50): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54298944 | TAAAAAAA others(24): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(16): Show | a0001c0001t0001g0010a0001c0001t0001g0016a0001c0001t0001g0068others(24): Show | 27 | 118 | 0.2288 | -31 | c.205 others(50): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(24): Show |
C | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 118 | 0.0085 | -31 | c.138 others(50): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18358330 | CACCCACC others(24): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 200 | 0.0050 | -31 | c.214 others(50): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481204 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0003 | a0002c0003t0052 | a0002c0003t0052g0024 | 1 | 200 | 0.0050 | -31 | c.334 others(50): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481206 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0063 | 1 | 200 | 0.0050 | -31 | c.334 others(50): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18358330 | CACCCACC others(24): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0217 | 1 | 302 | 0.0033 | -31 | c.51+ others(48): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481204 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0070 | a0001c0001t0007g0252a0002c0003t0070g0185 | 2 | 302 | 0.0066 | -31 | c.172 others(50): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481206 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0204 | 1 | 302 | 0.0033 | -31 | c.172 others(50): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85013916 | AATATTAT others(24): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0136a0001c0002t0007g0095 | 2 | 146 | 0.0137 | -31 | c.61+ others(48): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(24): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 146 | 0.0069 | -31 | c.61+ others(50): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85333491 | TGTATCTA others(24): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 146 | 0.0069 | -31 | c.61+ others(50): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADPS2_chr7_122313411_122891460 | 122706313 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0059 | 1 | 126 | 0.0079 | -31 | c.453 others(50): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93557494 | CGTGAATA others(24): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01081.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0243a0001c0001t0003g0148a0001c0001t0006g0242others(8): Show | 11 | 292 | 0.0377 | -31 | c.-27 others(50): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71922731 | AGAATATA others(24): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp1 HG01261.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0107others(6): Show | 9 | 142 | 0.0634 | -31 | c.501 others(52): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12387391 | TATATATT others(24): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0064a0001c0001t0002g0172a0001c0001t0002g0197others(36): Show | 39 | 214 | 0.1822 | -31 | c.92+ others(48): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12449561 | TGATGTAT others(24): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0088 | a0001c0001t0001g0046a0001c0001t0088g0087 | 2 | 214 | 0.0094 | -31 | c.92+ others(48): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12827441 | TTCTTTCT others(24): Show |
T | intron_variant | MODIFIER | HG02486.hp2 NA18971.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0084others(1): Show | a0001c0001t0001g0047a0001c0001t0002g0088a0001c0001t0084g0119others(1): Show | 4 | 214 | 0.0187 | -31 | c.104 others(50): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMKK2_chr12_121232692_121301709 | 121269044 | CGGGGAAA others(24): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01099.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(10): Show | a0001c0001t0001g0094a0001c0001t0001g0098a0001c0001t0001g0158others(26): Show | 29 | 330 | 0.0879 | -31 | c.574 others(46): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 4/16 | chr12 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135820240 | CATGGTCT others(24): Show |
C | intron_variant | MODIFIER | HG00408.hp2 NA19079.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0171a0001c0001t0001g0172 | 3 | 340 | 0.0088 | -31 | c.382 others(48): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 11/16 | chr9 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7542553 | AGCCTCCT others(24): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02922.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0011a0001c0002t0004a0001c0006t0001others(1): Show | a0001c0001t0011g0058a0001c0002t0004g0030a0001c0006t0001g0055others(1): Show | 4 | 58 | 0.0690 | -31 | c.510 others(50): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN10_chr2_240581734_240604104 | 240602644 | GCCACTCC others(24): Show |
G | downstream_gene_variant | MODIFIER | HG02683.hp2 HG02735.hp2 HG03710.hp2 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0004 | a0002c0003t0003g0026a0002c0003t0004g0026 | 3 | 412 | 0.0073 | -31 | c.*39 others(42): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 3541 | chr2 | TogoVar | ||||||
CAPN10_chr2_240581734_240604104 | 240602738 | GCCCACTC others(24): Show |
G | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 412 | 0.0024 | -31 | c.*40 others(42): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 3635 | chr2 | TogoVar | ||||||
CAPN10_chr2_240581734_240604104 | 240602739 | CCCACTCC others(24): Show |
C | downstream_gene_variant | MODIFIER | NA19005.hp2 NA19087.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 2 | 412 | 0.0049 | -31 | c.*40 others(42): Show |
CAPN10 | ENSG00000142330.20 | transcript | ENST00000391984.7 | protein_coding | 3636 | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182041 | CCACACAC others(24): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0226 | 1 | 460 | 0.0022 | -31 | c.193 others(48): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230751644 | AAAGAAAG others(24): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0038 | 1 | 394 | 0.0025 | -31 | c.214 others(48): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZB_chr1_19333775_19490539 | 19471865 | CAAAAAAA others(24): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(255): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(255): Show | 258 | 364 | 0.7088 | -31 | c.3+1 others(46): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25450780 | CCTCCCTT others(24): Show |
C | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0043 | 1 | 186 | 0.0054 | -31 | c.614 others(45): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARNMT1_chr9_74975790_75033293 | 75008863 | TTGAAAAA others(24): Show |
T | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 366 | 0.0027 | -31 | c.590 others(48): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105010449 | TATTATAC others(24): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp1 others(17): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0016a0003c0003t0001g0054a0003c0003t0001g0055others(16): Show | 20 | 396 | 0.0505 | -31 | c.8-1 others(44): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122201672 | GGGCTGAC others(24): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0038a0001c0001t0007g0036a0001c0001t0007g0037 | 3 | 314 | 0.0096 | -31 | c.-24 others(52): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASTOR1_chr22_30280117_30294505 | 30293248 | GTGATTCT others(24): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 424 | 0.0024 | -31 | c.-37 others(42): Show |
CASTOR1 | ENSG00000239282.8 | transcript | ENST00000407689.8 | protein_coding | 3744 | chr22 | TogoVar | ||||||
CAT_chr11_34433934_34477060 | 34476924 | GGTGAATT others(24): Show |
G | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 424 | 0.0024 | -31 | c.*54 others(42): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 4865 | chr11 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116533348 | TAAATAAA others(24): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 342 | 0.0029 | -31 | c.195 others(48): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555507 | AGAAAGAA others(24): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01943.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0100a0001c0001t0001g0119a0001c0001t0001g0123others(11): Show | 14 | 342 | 0.0409 | -31 | c.196 others(48): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555511 | AGAAAGAA others(24): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG02273.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0161others(2): Show | 5 | 342 | 0.0146 | -31 | c.196 others(48): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555513 | AAAGAAAG others(24): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG04204.hp1 NA18939.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078a0001c0001t0001g0125a0001c0001t0001g0217others(2): Show | 5 | 342 | 0.0146 | -31 | c.196 others(48): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88889756 | CCGCGATT others(24): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 284 | 0.0035 | -31 | c.711 others(48): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88889872 | TGGACGAC others(24): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 284 | 0.0035 | -31 | c.711 others(48): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88905708 | GCTGGAGG others(24): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG03579.hp2 |
a0001 | a0001c0005 | a0001c0005t0012a0001c0005t0028 | a0001c0005t0012g0184a0001c0005t0028g0249 | 2 | 284 | 0.0070 | -31 | c.152 others(48): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBR1_chr21_36065024_36078164 | 36069956 | GGGCGGGG others(24): Show |
G | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 430 | 0.0023 | -31 | c.-15 others(40): Show |
CBR1 | ENSG00000159228.13 | transcript | ENST00000290349.11 | protein_coding | 67 | chr21 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43057735 | CGCGCACC others(24): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(30): Show |
a0002a0008 | a0002c0003a0002c0010a0008c0015 | a0002c0003t0003a0002c0003t0004a0002c0010t0001others(1): Show | a0002c0003t0003g0119a0002c0003t0004g0010a0002c0003t0004g0011others(21): Show | 33 | 298 | 0.1107 | -31 | c.146 others(48): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | TogoVar | ||||||
CCAR1_chr10_68716239_68797377 | 68758661 | ATGTATAT others(24): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0219a0001c0001t0001g0223others(7): Show | 10 | 360 | 0.0278 | -31 | c.192 others(50): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCBE1_chr18_59425939_59702423 | 59591245 | CAAAAAAA others(24): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0083 | 1 | 242 | 0.0041 | -31 | c.212 others(52): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59658353 | AAATATAT others(24): Show |
A | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0020 | 1 | 242 | 0.0041 | -31 | c.212 others(50): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar |