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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN15_chr16_522712_559636 | 551233 | G | GGGCCCCG others(25): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0273 | 1 | 386 | 0.0026 | 32 | c.206 others(47): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0281 | 1 | 100 | 0.0100 | 32 | c.310 others(49): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77074323 | A | ATCCCCAG others(25): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 380 | 0.0026 | 32 | c.-36 others(49): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77098328 | T | TCCTCACT others(25): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0207 | 1 | 380 | 0.0026 | 32 | c.297 others(49): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
CAPRIN1_chr11_34046731_34107610 | 34079905 | G | GTTTTTTG others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 169 | 0.0059 | 32 | c.826 others(47): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01978.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 a0001c0001t0002g0198 |
2 | 5 | 0.4000 | 32 | c.40- others(47): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116904969 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0300 | 1 | 222 | 0.0045 | 32 | c.426 others(47): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0287 |
2 | 196 | 0.0102 | 32 | c.330 others(49): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19416860 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 30 | 0.0333 | 32 | c.93+ others(47): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2984538 | T | TCCCTCCC others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0227 | 1 | 267 | 0.0037 | 32 | c.-12 others(53): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25332787 | A | ACACGCAT others(25): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0133 | 1 | 171 | 0.0058 | 32 | c.138 others(51): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459210 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0013 | 1 | 124 | 0.0081 | 32 | c.615 others(49): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARNMT1_chr9_74975790_75033293 | 75021235 | A | AGTATATA others(25): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 358 | 0.0028 | 32 | c.231 others(49): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110649931 | C | CTGTTTTT others(25): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 17 | 0.0588 | 32 | c.105 others(51): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110679034 | T | TAAAGGCT others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(242): Show |
268 | 370 | 0.7243 | 32 | c.656 others(49): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40140373 | A | AACACACA others(25): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0200 | 1 | 94 | 0.0106 | 32 | c.-17 others(41): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 163 | chr17 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105009394 | G | GGTGTATT others(25): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0019 | a0019c0021 | a0019c0021t0001 | a0019c0021t0001g0216 | 1 | 394 | 0.0025 | 32 | c.8-4 others(43): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252407 | G | GTAGGAAG others(25): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03516.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0013 a0001c0001t0003g0025 a0001c0001t0003g0119 others(1): Show |
4 | 233 | 0.0172 | 32 | c.-24 others(51): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAAAA others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0019 a0001c0001t0009g0027 |
2 | 40 | 0.0500 | 32 | c.-24 others(51): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(25): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 39 | 0.0256 | 32 | c.-24 others(51): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(25): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 39 | 0.0256 | 32 | c.-24 others(51): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGT others(25): Show |
intron_variant | MODIFIER | HG01069.hp2 NA19086.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0002c0002t0002 | a0001c0001t0024g0121 a0002c0002t0002g0263 |
2 | 40 | 0.0500 | 32 | c.-24 others(51): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGTAGGA others(25): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02257.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0106 a0001c0001t0003g0260 a0001c0001t0018g0010 |
3 | 41 | 0.0732 | 32 | c.-24 others(51): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0069 | a0001c0001t0001g0059 a0001c0001t0069g0040 |
2 | 88 | 0.0227 | 32 | c.113 others(47): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0055 a0001c0001t0008g0054 |
2 | 88 | 0.0227 | 32 | c.113 others(47): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0063 | 1 | 87 | 0.0115 | 32 | c.113 others(47): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96662320 | G | GCTCCCTC others(25): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG01361.hp1 HG02451.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0018a0001c0021others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0018t0010others(3): Show | a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0010g0030 others(9): Show |
12 | 249 | 0.0482 | 32 | c.-10 others(41): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 55 | chr5 | TogoVar | |||||||
CATIP_chr2_218351857_218373094 | 218357259 | G | GTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 |
2 | 22 | 0.0909 | 32 | c.118 others(47): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26206481 | A | AAAAGAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02717.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0142 |
5 | 197 | 0.0254 | 32 | c.*39 others(43): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3518 | chr1 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91732601 | A | ACTAAGGC others(25): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 1 | 270 | 0.0037 | 32 | c.-70 others(41): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 516 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736501 | A | AAAGGAAG others(25): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0127 |
2 | 139 | 0.0144 | 32 | c.-45 others(43): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4416 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736526 | A | AAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 208 | 0.0048 | 32 | c.-45 others(43): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4441 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5733305 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 329 | 0.0030 | 32 | c.277 others(47): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5733307 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02922.hp1 |
a0010a0013a0015 | a0010c0008a0013c0013a0015c0014 | a0010c0008t0001a0013c0013t0001a0015c0014t0002 | a0010c0008t0001g0011 a0013c0013t0001g0012 a0015c0014t0002g0010 |
3 | 318 | 0.0094 | 32 | c.277 others(47): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5750450 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 67 | 0.0149 | 32 | c.988 others(49): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0224 | 1 | 46 | 0.0217 | 32 | c.142 others(51): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0060 | 1 | 46 | 0.0217 | 32 | c.142 others(51): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5782918 | A | AGCCCCCT others(25): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0224 | 1 | 334 | 0.0030 | 32 | c.*42 others(43): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4185 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0190 | 1 | 6 | 0.1667 | 32 | c.264 others(51): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 119 | 0.0084 | 32 | c.195 others(49): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 119 | 0.0084 | 32 | c.195 others(49): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(25): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01884.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0040 |
10 | 77 | 0.1299 | 32 | c.-85 others(41): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02132.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0246 a0001c0001t0001g0275 a0001c0001t0007g0067 others(4): Show |
7 | 182 | 0.0385 | 32 | c.34+ others(49): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 | 1 | 68 | 0.0147 | 32 | c.510 others(49): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119264388 | T | TTTCTCTT others(25): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0255 | 1 | 151 | 0.0066 | 32 | c.444 others(49): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBX3_chr7_26196745_26218607 | 26208951 | T | TTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 385 | 0.0026 | 32 | c.330 others(47): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
CC2D1A_chr19_13901201_13935879 | 13926013 | T | TACGTATA others(25): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 360 | 0.0028 | 32 | c.194 others(49): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13926045 | C | CGTATATA others(25): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0246 |
2 | 92 | 0.0217 | 32 | c.194 others(49): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | chr19 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59573284 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03942.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0034 | a0001c0001t0008g0197 a0001c0001t0034g0127 |
2 | 36 | 0.0556 | 32 | c.213 others(51): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59595114 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0165 | 1 | 164 | 0.0061 | 32 | c.212 others(53): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar |