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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BANP_chr16_87946434_88082316 | 87989799 | CGCATCCA others(52): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 others(112): Show |
115 | 352 | 0.3267 | -59 | c.362 others(76): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147541070 | TGAGAGAG others(52): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG02280.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0006g0192 a0001c0001t0007g0097 a0001c0001t0009g0218 others(2): Show |
5 | 316 | 0.0158 | -59 | c.-10 others(70): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 430 | chr1 | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197510625 | TGTGTGTG others(52): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0187 | 1 | 319 | 0.0031 | -59 | c.*12 others(70): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38166113 | CCACCCGC others(52): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02257.hp2 HG02630.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0028a0001c0001t0065others(10): Show | a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0092 others(13): Show |
16 | 224 | 0.0714 | -59 | c.*88 others(70): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 2337 | chr6 | TogoVar | |||||||
C11orf21_chr11_2290628_2306918 | 2300166 | GGGGTGGG others(52): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01175.hp2 others(24): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0030 | a0001c0003t0005g0005 a0001c0003t0005g0063 a0001c0003t0005g0064 others(2): Show |
27 | 426 | 0.0634 | -59 | c.147 others(74): Show |
C11orf21 | ENSG00000110665.12 | transcript | ENST00000381153.8 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
C11orf71_chr11_114393532_114405511 | 114394174 | GTTTCGTT others(52): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 1 | 422 | 0.0024 | -59 | c.*57 others(70): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4357 | chr11 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1108788 | ACCGTTCA others(52): Show |
A | intron_variant | MODIFIER | HG00140.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0250 a0001c0002t0002g0251 |
2 | 326 | 0.0061 | -59 | c.-13 others(78): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404224 | GGGGACGG others(52): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0132 | a0001c0002t0132g0141 | 1 | 322 | 0.0031 | -59 | c.*28 others(70): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1220 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404256 | GGGACGGG others(52): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02145.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0002c0005others(2): Show | a0001c0001t0031a0001c0001t0058a0001c0006t0123others(4): Show | a0001c0001t0031g0027 a0001c0001t0058g0069 a0001c0006t0123g0065 others(4): Show |
7 | 322 | 0.0217 | -59 | c.*27 others(70): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1188 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404578 | GACGGGGT others(52): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0042 | a0001c0001t0025g0021 a0001c0001t0042g0035 |
2 | 322 | 0.0062 | -59 | c.*24 others(70): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 866 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1078921 | CCAGCGGG others(52): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(112): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 others(112): Show |
115 | 326 | 0.3528 | -59 | c.129 others(78): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1078939 | ATCAAGAC others(52): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0166 | 1 | 326 | 0.0031 | -59 | c.129 others(78): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C8orf33_chr8_145047467_145061030 | 145055073 | AGGCTCCG others(52): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 406 | 0.0025 | -59 | c.*92 others(68): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 5/5 | 920 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf82_chr8_144520733_144534111 | 144530465 | AGCACCCG others(52): Show |
A | upstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 398 | 0.0025 | -59 | c.-16 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 1355 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | AGAGCAGC others(52): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
2 | 398 | 0.0050 | -59 | c.-23 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531269 | GGGCTAGA others(52): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG01074.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0015 others(4): Show |
10 | 398 | 0.0251 | -59 | c.-24 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2159 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531309 | GGAGCAGC others(52): Show |
G | upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 398 | 0.0025 | -59 | c.-24 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2199 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531328 | AGGCTAGA others(52): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 398 | 0.0025 | -59 | c.-24 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2218 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531427 | GGAGCAGC others(52): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02559.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0006 a0001c0003t0003g0013 a0001c0003t0003g0022 |
3 | 398 | 0.0075 | -59 | c.-25 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2317 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531486 | CGAGCAGC others(52): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0051 | 1 | 398 | 0.0025 | -59 | c.-26 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2376 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531623 | GGGCTAGA others(52): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02071.hp2 HG03704.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0003 a0001c0002t0002g0005 a0001c0002t0002g0006 others(2): Show |
6 | 398 | 0.0151 | -59 | c.-27 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2513 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531781 | GGAGCAGC others(52): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01099.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0002g0015 a0001c0001t0002g0043 others(6): Show |
15 | 398 | 0.0377 | -59 | c.-29 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2671 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531840 | CGAGCAGC others(52): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02027.hp1 HG02071.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0006 |
3 | 398 | 0.0075 | -59 | c.-29 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2730 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531918 | GGGCTAGA others(52): Show |
G | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG02015.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0003 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0002t0002g0001 others(5): Show |
8 | 398 | 0.0201 | -59 | c.-30 others(70): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2808 | chr8 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138126765 | CCCCGGCC others(52): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp2 HG02486.hp1 HG02615.hp1 others(3): Show |
a0002a0009a0022 | a0002c0001a0002c0004a0009c0021others(1): Show | a0002c0001t0001a0002c0004t0001a0009c0021t0019others(1): Show | a0002c0001t0001g0163 a0002c0001t0001g0222 a0002c0004t0001g0213 others(3): Show |
6 | 248 | 0.0242 | -59 | c.*47 others(70): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2147 | chr9 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53918669 | TGATAGTA others(52): Show |
T | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 364 | 0.0028 | -59 | c.424 others(76): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85360250 | GACTTATA others(52): Show |
G | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0037 | 1 | 146 | 0.0069 | -59 | c.62- others(78): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187358556 | TGTGCCAC others(52): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03471.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0028 |
3 | 344 | 0.0087 | -59 | c.909 others(74): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 12/14 | chr2 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12691365 | ATATATAT others(52): Show |
A | intron_variant | MODIFIER | HG01069.hp2 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0021a0001c0002t0051 | a0001c0002t0021g0023 a0001c0002t0051g0179 |
2 | 214 | 0.0094 | -59 | c.299 others(78): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691367 | ATATATAT others(52): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 214 | 0.0047 | -59 | c.299 others(78): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121301183 | TTTTTTTT others(52): Show |
T | upstream_gene_variant | MODIFIER | HG02683.hp2 HG03834.hp1 HG04184.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0275 a0002c0002t0001g0276 a0003c0003t0001g0277 |
3 | 330 | 0.0091 | -59 | c.-46 others(70): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 4475 | chr12 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 531610 | CCTTCTCT others(52): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03471.hp2 HG03540.hp1 |
a0001a0004 | a0001c0006a0001c0067a0004c0025 | a0001c0006t0003a0001c0067t0016a0004c0025t0003 | a0001c0006t0003g0277 a0001c0067t0016g0279 a0004c0025t0003g0278 |
3 | 410 | 0.0073 | -59 | c.-18 others(78): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37509817 | TCCTGCCA others(52): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0244 | 1 | 276 | 0.0036 | -59 | c.909 others(74): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/19 | chr22 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2909568 | CAGCCTCT others(52): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00597.hp1 others(85): Show |
a0001a0006a0008others(3): Show | a0001c0001a0001c0002a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(17): Show | a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 others(85): Show |
88 | 322 | 0.2733 | -59 | c.326 others(76): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2909570 | GCCTCTCA others(52): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02723.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0052 | a0001c0001t0004a0001c0006t0004a0001c0052t0001 | a0001c0001t0004g0106 a0001c0001t0004g0276 a0001c0006t0004g0305 others(1): Show |
4 | 322 | 0.0124 | -59 | c.326 others(76): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | |||||||
CATSPER1_chr11_66011752_66031479 | 66026911 | GAATAATA others(52): Show |
G | upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 408 | 0.0025 | -59 | c.-59 others(68): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 433 | chr11 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244486490 | GGTACTCG others(52): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(48): Show |
51 | 206 | 0.2476 | -59 | c.327 others(76): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244486783 | GGAGTACT others(52): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 206 | 0.0049 | -59 | c.327 others(76): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244600699 | GATCAAAT others(52): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0150 | 1 | 206 | 0.0049 | -59 | c.230 others(78): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555493 | AAAGAAAG others(52): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0269 | 1 | 342 | 0.0029 | -59 | c.196 others(76): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | GCACACAT others(52): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02109.hp2 HG03927.hp2 others(9): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0021a0001c0001t0025others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(9): Show |
12 | 284 | 0.0423 | -59 | c.380 others(76): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CCDC102A_chr16_57507181_57541571 | 57515374 | TTCTCGCT others(52): Show |
T | frameshift_variant | HIGH | NA18961.hp2 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0082 | 1 | 416 | 0.0024 | -59 | c.143 others(68): Show |
p.His others(5): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 8/9 | 1708/2432 | 1431/1653 | 477/550 | chr16 | TogoVar | |||
CCDC102B_chr18_68793080_69060189 | 68956538 | TTTATATA others(52): Show |
T | intron_variant | MODIFIER | NA18941.hp1 NA18975.hp2 NA19011.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0001 | a0001c0001t0008g0036 a0002c0002t0001g0039 a0002c0002t0001g0061 others(1): Show |
4 | 216 | 0.0185 | -59 | c.126 others(80): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC7_chr10_32441140_32887864 | 32808602 | AGGCCCAA others(52): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(55): Show |
a0001a0002a0018others(1): Show | a0001c0001a0002c0003a0018c0024others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0045 a0001c0001t0002g0005 a0001c0001t0002g0006 others(55): Show |
58 | 368 | 0.1576 | -59 | c.309 others(78): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 31/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC85A_chr2_56178990_56391172 | 56265378 | CTACTTCA others(52): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00639.hp2 others(100): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0101 a0001c0001t0001g0103 others(100): Show |
103 | 308 | 0.3344 | -59 | c.124 others(80): Show |
CCDC85A | ENSG00000055813.6 | transcript | ENST00000407595.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61755534 | TATACACA others(52): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0017a0001c0001t0031others(1): Show | a0001c0001t0009g0019 a0001c0001t0017g0065 a0001c0001t0031g0089 others(1): Show |
4 | 106 | 0.0377 | -59 | c.396 others(78): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17419509 | AGGAAGAA others(52): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 NA18945.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0103 a0001c0001t0002g0021 a0001c0001t0002g0121 others(7): Show |
10 | 324 | 0.0309 | -59 | c.126 others(78): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69204012 | TATATATA others(52): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 388 | 0.0026 | -59 | c.487 others(76): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65544456 | CCATTATG others(52): Show |
C | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 374 | 0.0027 | -59 | c.242 others(76): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20356491 | GTGAGGGG others(52): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 236 | 0.0042 | -59 | c.351 others(78): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |