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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRF1_chr14_105204286_105306001 | 105236919 | G | GAGCAACA others(93): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 70 | 0.0143 | 100 | c.694 others(117): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105237575 | C | CCGCGTAG others(93): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0072 | 1 | 70 | 0.0143 | 100 | c.694 others(117): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 179 | 0.0056 | 100 | c.*50 others(111): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | |||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(133): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 others(20): Show |
136 | 314 | 0.4331 | 100 | c.*50 others(111): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | |||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 179 | 0.0056 | 100 | c.*50 others(111): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | |||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 179 | 0.0056 | 100 | c.*50 others(111): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331437 | G | GAGGGAAG others(93): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 131 | 0.0076 | 100 | c.327 others(117): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126564832 | C | CTCTATAT others(93): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00735.hp2 others(51): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0101 others(51): Show |
54 | 192 | 0.2813 | 100 | c.314 others(119): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126564832 | C | CTCTCTAT others(93): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG03654.hp2 |
a0001a0014 | a0001c0001a0014c0020 | a0001c0001t0001a0014c0020t0002 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0014c0020t0002g0099 |
3 | 141 | 0.0213 | 100 | c.314 others(119): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126564833 | T | TCTATATA others(93): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 215 | 0.0047 | 100 | c.314 others(119): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126564833 | T | TCTATATA others(93): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 215 | 0.0047 | 100 | c.314 others(119): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126564835 | T | TATATATA others(93): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 others(16): Show |
19 | 84 | 0.2262 | 100 | c.314 others(119): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C11orf65_chr11_108377755_108472529 | 108408674 | T | TAAATAAA others(93): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 230 | 0.0043 | 100 | c.175 others(117): Show |
C11orf65 | ENSG00000166323.13 | transcript | ENST00000393084.6 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39714094 | C | CATGTATA others(93): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0004c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
201 | 338 | 0.5947 | 100 | c.141 others(119): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39714094 | C | CATGTATA others(93): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 138 | 0.0072 | 100 | c.141 others(119): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39714094 | C | CATGTATA others(93): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03139.hp2 NA20300.hp2 |
a0001a0003 | a0001c0007a0003c0003 | a0001c0007t0001a0003c0003t0001 | a0001c0007t0001g0024 a0003c0003t0001g0034 a0003c0003t0001g0035 |
3 | 140 | 0.0214 | 100 | c.141 others(119): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39714126 | T | TATATGTA others(93): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18962.hp2 NA18991.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0174 a0001c0001t0001g0181 others(1): Show |
5 | 358 | 0.0140 | 100 | c.141 others(119): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39714149 | A | ATATACGT others(93): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 |
3 | 358 | 0.0084 | 100 | c.141 others(119): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf56_chr12_64259762_64395758 | 64367213 | C | CATACAGT others(93): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0220 | 1 | 23 | 0.0435 | 100 | c.253 others(119): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64367213 | C | CATACAGT others(93): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02809.hp1 NA20805.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0010 | a0001c0001t0002g0136 a0001c0001t0004g0231 a0002c0002t0010g0003 |
3 | 25 | 0.1200 | 100 | c.253 others(119): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64367213 | C | CATACAGT others(93): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01255.hp2 others(29): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0017a0001c0003t0001others(6): Show | a0001c0001t0002g0094 a0001c0001t0002g0135 a0001c0001t0002g0137 others(29): Show |
32 | 54 | 0.5926 | 100 | c.253 others(119): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C16orf95_chr16_87297814_87322392 | 87304305 | T | TGCCCATC others(93): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0193 | 1 | 157 | 0.0064 | 100 | c.702 others(117): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
C16orf95_chr16_87297814_87322392 | 87304305 | T | TGCCCATC others(93): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0194 | 1 | 157 | 0.0064 | 100 | c.702 others(117): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
C16orf95_chr16_87297814_87322392 | 87304305 | T | TGCCCATC others(93): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0011 | a0001c0011t0011 | a0001c0011t0011g0191 | 1 | 157 | 0.0064 | 100 | c.702 others(117): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
C16orf95_chr16_87297814_87322392 | 87304305 | T | TGCCCATC others(93): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0123 a0001c0002t0002g0017 a0001c0002t0002g0021 others(8): Show |
18 | 174 | 0.1034 | 100 | c.702 others(117): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
C16orf95_chr16_87297814_87322392 | 87304305 | T | TGCCCATC others(93): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(62): Show |
a0001a0002a0004others(2): Show | a0001c0002a0002c0001a0004c0010others(2): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0009others(3): Show | a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0013 others(19): Show |
65 | 221 | 0.2941 | 100 | c.702 others(117): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
C16orf95_chr16_87297814_87322392 | 87304305 | T | TGCCCATC others(93): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 157 | 0.0064 | 100 | c.702 others(117): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37390304 | T | TTTTATAT others(93): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 282 | 0.0035 | 100 | c.750 others(115): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184559513 | T | TCCTTCCT others(93): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 220 | 0.0045 | 100 | c.190 others(119): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184559517 | T | TCCTTCCT others(93): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01981.hp2 HG02056.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0081 others(16): Show |
19 | 202 | 0.0941 | 100 | c.190 others(119): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 278961 | C | CGGGAGGG others(93): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 323 | 0.0031 | 100 | c.465 others(115): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278977 | A | AGGGAGGG others(93): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 a0001c0003t0001g0340 |
2 | 323 | 0.0062 | 100 | c.465 others(115): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404613 | C | CGGGGTCC others(93): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02145.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0112a0003c0005t0057 | a0001c0001t0112g0092 a0003c0005t0057g0144 |
2 | 163 | 0.0123 | 100 | c.*24 others(111): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 831 | chr19 | TogoVar | |||||||
C2orf50_chr2_11128128_11156317 | 11146616 | G | GTGATGGA others(93): Show |
3_prime_UTR_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0030 | 1 | 378 | 0.0026 | 100 | c.*25 others(111): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 3/3 | 2606 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(93): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0265 | 1 | 233 | 0.0043 | 100 | c.366 others(117): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCATAGG others(93): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 266 | 0.0038 | 100 | c.300 others(117): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54735997 | A | ATATATGT others(93): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0023 | 1 | 115 | 0.0087 | 100 | c.116 others(121): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442958 | G | GTATATAT others(93): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0124 | 1 | 242 | 0.0041 | 100 | c.171 others(119): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48858006 | A | ATAGAGTA others(93): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 324 | 0.0031 | 100 | c.100 others(119): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACATACA others(93): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 11 | 0.0909 | 100 | c.218 others(115): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72114260 | A | AAGGGGAG others(93): Show |
intron_variant | MODIFIER | HG01255.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0057 | a0001c0001t0052g0133 a0001c0001t0057g0138 |
2 | 120 | 0.0167 | 100 | c.245 others(117): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12623115 | T | TCCTTCTT others(93): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 209 | 0.0048 | 100 | c.225 others(119): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735878 | G | GGGGCGGG others(93): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0276 | 1 | 334 | 0.0030 | 100 | c.158 others(117): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735917 | C | CGGGGCGG others(93): Show |
intron_variant | MODIFIER | HG03516.hp2 NA20129.hp2 |
a0001a0025 | a0001c0001a0025c0029 | a0001c0001t0007a0025c0029t0007 | a0001c0001t0007g0285 a0025c0029t0007g0288 |
2 | 320 | 0.0063 | 100 | c.158 others(117): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544746 | T | TCGCCTCC others(93): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0015 | a0001c0001t0003a0001c0002t0004a0002c0015t0004 | a0001c0001t0003g0254 a0001c0002t0004g0253 a0001c0002t0004g0255 others(2): Show |
5 | 361 | 0.0139 | 100 | c.-22 others(117): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551023 | G | GTCCCGGT others(93): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03579.hp2 NA20300.hp2 |
a0001a0002a0014 | a0001c0001a0002c0012a0014c0068 | a0001c0001t0001a0002c0012t0002a0014c0068t0001 | a0001c0001t0001g0361 a0002c0012t0002g0266 a0014c0068t0001g0363 |
3 | 390 | 0.0077 | 100 | c.206 others(117): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
CARS1_chr11_2995929_3062423 | 3031996 | T | TTCCTTCC others(93): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0096 | 1 | 268 | 0.0037 | 100 | c.802 others(117): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5741785 | C | CGGGGGGG others(93): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 73 | 0.0137 | 100 | c.573 others(117): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23637705 | G | GGGGGGGT others(93): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 309 | 0.0032 | 100 | c.239 others(117): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 194146 | A | ACTGTCCT others(93): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(140): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(71): Show |
143 | 377 | 0.3793 | 100 | c.*11 others(113): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2721 | chr5 | TogoVar |