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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMIP_chr16_81439808_81716762 | 81667799 | A | AGAGAGAG others(21): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 119 | 0.0084 | 28 | c.826 others(45): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81667799 | A | AGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0220 | 1 | 119 | 0.0084 | 28 | c.826 others(45): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99983462 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0114 | 1 | 182 | 0.0055 | 28 | c.65- others(47): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32295455 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 196 | 0.0051 | 28 | c.147 others(47): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0179 |
2 | 60 | 0.0333 | 28 | c.148 others(47): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 59 | 0.0169 | 28 | c.148 others(47): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0093 a0001c0001t0002g0272 |
2 | 60 | 0.0333 | 28 | c.148 others(47): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(5): Show |
a0001a0005a0009others(1): Show | a0001c0001a0005c0005a0009c0009others(2): Show | a0001c0001t0010a0005c0005t0001a0009c0009t0001others(2): Show | a0001c0001t0010g0088 a0001c0001t0010g0089 a0005c0005t0001g0270 others(5): Show |
8 | 204 | 0.0392 | 28 | c.115 others(51): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0138 | 1 | 197 | 0.0051 | 28 | c.115 others(51): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79778811 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0025 | a0025c0021 | a0025c0021t0002 | a0025c0021t0002g0302 | 1 | 197 | 0.0051 | 28 | c.115 others(51): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87087288 | T | TACATATA others(21): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0104 |
2 | 151 | 0.0132 | 28 | c.432 others(49): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136936 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00741.hp1 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 others(13): Show |
16 | 108 | 0.1481 | 28 | c.432 others(47): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87137114 | T | TATTATAT others(21): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 149 | 0.0067 | 28 | c.432 others(47): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87307747 | A | AAATTATA others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 107 | 0.0093 | 28 | c.104 others(49): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172628 | G | GCAGGCAG others(21): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0163 | 1 | 366 | 0.0027 | 28 | c.-14 others(43): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNGA3_chr2_98341456_98403601 | 98367167 | G | GTTTATTT others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0071 | 1 | 307 | 0.0033 | 28 | c.-37 others(45): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CCTTTCTT others(21): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0011 | a0011c0059 | a0011c0059t0001 | a0011c0059t0001g0123 | 1 | 227 | 0.0044 | 28 | c.*43 others(39): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57885557 | C | CCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 |
a0006a0007 | a0006c0086a0007c0120 | a0006c0086t0003a0007c0120t0003 | a0006c0086t0003g0067 a0007c0120t0003g0065 |
2 | 237 | 0.0084 | 28 | c.346 others(47): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | |||||||
CNIH4_chr1_224351879_224384452 | 224358049 | T | TTCAGTGC others(21): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 322 | 0.0031 | 28 | c.69+ others(43): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
CNKSR3_chr6_154382515_154515685 | 154383233 | G | GTGAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(94): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(74): Show | a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 others(94): Show |
97 | 340 | 0.2853 | 28 | c.*23 others(41): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 4281 | chr6 | TogoVar | |||||||
CNKSR3_chr6_154382515_154515685 | 154415228 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0202a0001c0002t0033others(1): Show | a0001c0001t0004g0311 a0001c0001t0202g0335 a0001c0002t0033g0075 others(2): Show |
5 | 73 | 0.0685 | 28 | c.946 others(43): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | |||||||
CNMD_chr13_52698264_52744820 | 52701790 | T | TACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 325 | 0.0031 | 28 | c.*18 others(39): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 1473 | chr13 | TogoVar | |||||||
CNMD_chr13_52698264_52744820 | 52701790 | T | TACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 325 | 0.0031 | 28 | c.*18 others(39): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 1473 | chr13 | TogoVar | |||||||
CNMD_chr13_52698264_52744820 | 52701802 | G | GACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01106.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0037 a0001c0001t0001g0053 others(7): Show |
12 | 22 | 0.5455 | 28 | c.*17 others(39): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 1461 | chr13 | TogoVar | |||||||
CNNM1_chr10_99324356_99399330 | 99340876 | T | TCCTGCCT others(21): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0172 a0001c0001t0006g0171 |
2 | 146 | 0.0137 | 28 | c.157 others(47): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM1_chr10_99324356_99399330 | 99340876 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02559.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0020 | a0001c0001t0002g0137 a0001c0001t0006g0134 a0001c0001t0006g0135 others(2): Show |
5 | 149 | 0.0336 | 28 | c.157 others(47): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM1_chr10_99324356_99399330 | 99340876 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0017g0212 |
3 | 147 | 0.0204 | 28 | c.157 others(47): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM1_chr10_99324356_99399330 | 99347576 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01516.hp2 HG01952.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0101 a0001c0001t0001g0102 others(8): Show |
11 | 61 | 0.1803 | 28 | c.157 others(47): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102976611 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0227 | 1 | 35 | 0.0286 | 28 | c.162 others(49): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18967.hp2 NA18982.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0200 |
3 | 75 | 0.0400 | 28 | c.159 others(47): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02559.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0176 a0001c0001t0001g0331 |
3 | 75 | 0.0400 | 28 | c.159 others(47): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0323 | 1 | 73 | 0.0137 | 28 | c.159 others(47): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT2_chr12_70238433_70359993 | 70308584 | T | TCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 93 | 0.0108 | 28 | c.49- others(43): Show |
CNOT2 | ENSG00000111596.14 | transcript | ENST00000229195.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133834 | T | TCCCTCTC others(21): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 216 | 0.0046 | 28 | c.-42 others(39): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3927 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54142433 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02004.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0001g0076 others(4): Show |
8 | 66 | 0.1212 | 28 | c.-50 others(43): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77807276 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0240 a0001c0001t0009g0091 |
2 | 74 | 0.0270 | 28 | c.5+1 others(43): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77819049 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01433.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(1): Show |
4 | 78 | 0.0513 | 28 | c.5+2 others(39): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
CNOT6_chr5_180489379_180583358 | 180533312 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18947.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0058 | a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0058g0094 |
3 | 78 | 0.0385 | 28 | c.112 others(45): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180533312 | C | CTATATGT others(21): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 76 | 0.0132 | 28 | c.112 others(45): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNPY1_chr7_155496129_155551559 | 155521055 | G | GAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001 | a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0003t0001g0004 others(3): Show |
7 | 424 | 0.0165 | 28 | c.100 others(47): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CNPY1_chr7_155496129_155551559 | 155527030 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01358.hp2 HG01981.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0136 a0001c0001t0002g0119 a0001c0001t0002g0144 others(12): Show |
15 | 329 | 0.0456 | 28 | c.100 others(47): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CNPY1_chr7_155496129_155551559 | 155527054 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0027 | a0001c0001t0017g0380 a0001c0001t0027g0386 a0001c0001t0027g0387 |
3 | 182 | 0.0165 | 28 | c.100 others(47): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CNTLN_chr9_17130040_17508923 | 17279829 | T | TGGGCCTT others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(69): Show |
a0001a0003a0004others(10): Show | a0001c0029a0003c0002a0003c0052others(14): Show | a0001c0029t0001a0003c0002t0001a0003c0002t0002others(26): Show | a0001c0029t0001g0202 a0003c0002t0001g0051 a0003c0002t0001g0052 others(69): Show |
72 | 216 | 0.3333 | 28 | c.983 others(45): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17279830 | G | GGGCCTTT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(60): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0014a0001c0030others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(32): Show | a0001c0001t0001g0205 a0001c0001t0002g0204 a0001c0014t0001g0038 others(60): Show |
63 | 216 | 0.2917 | 28 | c.983 others(45): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40813038 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0013t0001 | a0001c0002t0001g0173 a0001c0013t0001g0050 |
2 | 52 | 0.0385 | 28 | c.-76 others(47): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40813058 | T | TCTTTCTT others(21): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18972.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0002 | a0001c0001t0003g0165 a0001c0005t0002g0053 |
2 | 197 | 0.0102 | 28 | c.-76 others(47): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40844069 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18952.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0006 | a0001c0001t0006g0140 a0001c0006t0006g0016 a0001c0006t0006g0119 |
3 | 28 | 0.1071 | 28 | c.-76 others(47): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40863926 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 a0001c0002t0001g0196 |
2 | 179 | 0.0112 | 28 | c.-76 others(47): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40863926 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0007 | a0001c0004t0001g0217 a0001c0004t0002g0008 a0001c0004t0007g0212 |
3 | 180 | 0.0167 | 28 | c.-76 others(47): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40924881 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01258.hp1 HG01361.hp2 others(11): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0049 a0001c0001t0002g0005 a0001c0001t0002g0019 others(11): Show |
14 | 109 | 0.1284 | 28 | c.496 others(43): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |