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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C22orf42_chr22_32144006_32164303 | 32145657 | A | ATATAATT others(3): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03834.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0008a0002c0004t0003g0052 | 2 | 398 | 0.0050 | 10 | c.*38 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3348 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146117 | T | TATATAAT others(3): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0026 | 1 | 398 | 0.0025 | 10 | c.*34 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2888 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146169 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02809.hp2 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0007t0002 | a0002c0002t0002g0091a0002c0007t0002g0012 | 2 | 398 | 0.0050 | 10 | c.*33 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2836 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147884 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0122 | 1 | 398 | 0.0025 | 10 | c.*16 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1121 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 398 | 0.0025 | 10 | c.*16 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01515.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0037a0002c0002t0001g0071others(1): Show | 12 | 398 | 0.0302 | 10 | c.*16 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATTA others(3): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 10 | c.*16 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG02132.hp1 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0074a0002c0002t0001g0075 | 21 | 398 | 0.0528 | 10 | c.*16 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18948.hp1 NA19056.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0066 | 6 | 398 | 0.0151 | 10 | c.*16 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32148240 | C | CATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG02280.hp2 HG02738.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0096others(1): Show | 6 | 398 | 0.0151 | 10 | c.*12 others(21): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 765 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32154015 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG04204.hp2 others(1): Show |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0002a0002c0002t0002 | a0001c0009t0002g0024a0002c0002t0002g0085 | 4 | 398 | 0.0101 | 10 | c.307 others(25): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2/8 | chr22 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41908243 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp1 others(6): Show |
a0001a0002 | a0001c0005a0001c0014a0001c0028others(2): Show | a0001c0005t0002a0001c0005t0007a0001c0005t0008others(5): Show | a0001c0005t0002g0327a0001c0005t0007g0308a0001c0005t0008g0305others(6): Show | 9 | 396 | 0.0227 | 10 | c.101 others(27): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41948870 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01099.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0008a0001c0001t0013a0001c0002t0002others(9): Show | a0001c0001t0008g0307a0001c0001t0013g0142a0001c0002t0002g0304others(10): Show | 13 | 396 | 0.0328 | 10 | c.279 others(27): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74063409 | A | ATGGATTC others(3): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 318 | 0.0031 | 10 | c.495 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 24/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74107322 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0016 | a0016c0021 | a0016c0021t0001 | a0016c0021t0001g0220 | 1 | 318 | 0.0031 | 10 | c.196 others(27): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 12/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117031 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03490.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0001t0001g0164 | 3 | 318 | 0.0094 | 10 | c.152 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117046 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0231 | 1 | 318 | 0.0031 | 10 | c.152 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117117 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03041.hp1 HG03516.hp2 others(1): Show |
a0012a0014 | a0012c0013a0014c0020 | a0012c0013t0001a0014c0020t0004 | a0012c0013t0001g0225a0012c0013t0001g0226a0014c0020t0004g0218others(1): Show | 4 | 318 | 0.0126 | 10 | c.152 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117131 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0231 | 1 | 318 | 0.0031 | 10 | c.152 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117145 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG03516.hp1 others(1): Show |
a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0232a0006c0012t0001g0233a0006c0012t0001g0234others(1): Show | 4 | 318 | 0.0126 | 10 | c.152 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117159 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03516.hp1 NA20300.hp1 |
a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0232a0006c0012t0001g0234a0006c0012t0001g0235 | 3 | 318 | 0.0094 | 10 | c.152 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117361 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01074.hp1 others(18): Show |
a0002a0005a0008others(1): Show | a0002c0003a0002c0005a0005c0006others(3): Show | a0002c0003t0001a0002c0005t0001a0005c0006t0001others(3): Show | a0002c0003t0001g0051a0002c0003t0001g0059a0002c0003t0001g0065others(18): Show | 21 | 318 | 0.0660 | 10 | c.152 others(27): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74146711 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG03516.hp1 others(1): Show |
a0006a0007 | a0006c0012a0007c0026 | a0006c0012t0001a0007c0026t0001 | a0006c0012t0001g0231a0006c0012t0001g0232a0006c0012t0001g0234others(1): Show | 4 | 318 | 0.0126 | 10 | c.484 others(27): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74146747 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG03239.hp2 others(3): Show |
a0002a0005a0007 | a0002c0003a0005c0006a0007c0017 | a0002c0003t0001a0005c0006t0001a0007c0017t0001 | a0002c0003t0001g0065a0005c0006t0001g0006a0005c0006t0001g0007others(3): Show | 6 | 318 | 0.0189 | 10 | c.484 others(27): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74147052 | A | AAAAATAA others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18963.hp2 NA20300.hp2 |
a0003a0033 | a0003c0002a0003c0016a0033c0022 | a0003c0002t0001a0003c0016t0001a0033c0022t0001 | a0003c0002t0001g0246a0003c0016t0001g0242a0033c0022t0001g0295 | 3 | 318 | 0.0094 | 10 | c.484 others(27): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74153210 | A | AAAAACAA others(3): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01255.hp1 others(13): Show |
a0002a0005a0032 | a0002c0003a0005c0006a0032c0024 | a0002c0003t0001a0005c0006t0001a0032c0024t0001 | a0002c0003t0001g0050a0002c0003t0001g0055a0002c0003t0001g0056others(13): Show | 16 | 318 | 0.0503 | 10 | c.483 others(27): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD4A_chr15_62061977_62075917 | 62075798 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 410 | 0.0024 | 10 | c.*70 others(21): Show |
C2CD4A | ENSG00000198535.5 | transcript | ENST00000355522.5 | protein_coding | 4882 | chr15 | TogoVar | ||||||
C2CD4D_chr1_151832818_151844820 | 151843703 | C | CACGTTTC others(3): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 442 | 0.0023 | 10 | c.-42 others(21): Show |
C2CD4D | ENSG00000225556.2 | transcript | ENST00000694868.1 | protein_coding | 3884 | chr1 | TogoVar | ||||||
C2CD5_chr12_22443583_22549542 | 22530076 | C | CTATATAT others(3): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 200 | 0.0050 | 10 | c.178 others(27): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | TogoVar | ||||||
C2CD5_chr12_22443583_22549542 | 22530111 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0130 | 1 | 200 | 0.0050 | 10 | c.178 others(27): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 3/26 | chr12 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201515201 | A | ATAGTTTT others(3): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0110 | 2 | 270 | 0.0074 | 10 | c.150 others(31): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201521457 | G | GAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02129.hp1 HG02135.hp1 others(9): Show |
a0001a0002a0026others(1): Show | a0001c0001a0002c0002a0026c0024others(1): Show | a0001c0001t0001a0002c0002t0001a0026c0024t0001others(1): Show | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0093others(9): Show | 12 | 270 | 0.0444 | 10 | c.150 others(31): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201530961 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 270 | 0.0037 | 10 | c.150 others(29): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201541531 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02572.hp2 HG02630.hp2 others(2): Show |
a0002a0004a0008 | a0002c0002a0002c0007a0004c0004others(1): Show | a0002c0002t0001a0002c0007t0001a0004c0004t0001others(1): Show | a0002c0002t0001g0160a0002c0002t0001g0243a0002c0007t0001g0058others(2): Show | 5 | 270 | 0.0185 | 10 | c.116 others(29): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 11/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201581477 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02647.hp1 HG02895.hp2 others(3): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0003c0003t0001a0004c0005t0001others(1): Show | a0002c0002t0001g0210a0002c0002t0001g0212a0003c0003t0001g0036others(3): Show | 6 | 270 | 0.0222 | 10 | c.639 others(25): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 5/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201601273 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 270 | 0.0037 | 10 | c.516 others(25): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 4/15 | chr2 | TogoVar | ||||||
C2_chr6_31922717_31950672 | 31941814 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01074.hp2 others(20): Show |
a0001a0003a0005others(1): Show | a0001c0002a0003c0006a0005c0015others(1): Show | a0001c0002t0001a0003c0006t0001a0005c0015t0001others(1): Show | a0001c0002t0001g0011a0001c0002t0001g0030a0001c0002t0001g0043others(14): Show | 23 | 395 | 0.0582 | 10 | c.122 others(29): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C2orf15_chr2_99136707_99156669 | 99136798 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00735.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0132 | 3 | 414 | 0.0073 | 10 | c.-54 others(21): Show |
C2orf15 | ENSG00000273045.7 | transcript | ENST00000650052.2 | protein_coding | 4908 | chr2 | TogoVar | ||||||
C2orf15_chr2_99136707_99156669 | 99144649 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00642.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0021others(18): Show | 36 | 414 | 0.0870 | 10 | c.-16 others(29): Show |
C2orf15 | ENSG00000273045.7 | transcript | ENST00000650052.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf15_chr2_99136707_99156669 | 99154452 | A | AGAGAGGG others(3): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0115 | 1 | 414 | 0.0024 | 10 | c.*36 others(21): Show |
C2orf15 | ENSG00000273045.7 | transcript | ENST00000650052.2 | protein_coding | 2784 | chr2 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27539749 | A | ACCCCCCC others(3): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03516.hp2 NA18961.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(3): Show | 6 | 326 | 0.0184 | 10 | c.144 others(27): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27539761 | C | CCCCCCCC others(3): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 326 | 0.0031 | 10 | c.144 others(27): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27540193 | T | TGACCCCC others(3): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0042 | a0042c0034 | a0042c0034t0001 | a0042c0034t0001g0288 | 1 | 326 | 0.0031 | 10 | c.144 others(27): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27554571 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(217): Show |
a0001a0002a0004others(31): Show | a0001c0001a0001c0050a0001c0051others(37): Show | a0001c0001t0001a0001c0050t0001a0001c0051t0001others(38): Show | a0001c0001t0001g0001a0001c0001t0001g0031a0001c0001t0001g0034others(215): Show | 220 | 326 | 0.6749 | 10 | c.145 others(29): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf42_chr2_70144885_70196019 | 70169247 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03471.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0275 | 3 | 346 | 0.0087 | 10 | c.114 others(27): Show |
C2orf42 | ENSG00000115998.8 | transcript | ENST00000264434.7 | protein_coding | 6/9 | chr2 | TogoVar | ||||||
C2orf50_chr2_11128128_11156317 | 11132997 | T | TCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001a0001c0001t0006g0112 | 2 | 380 | 0.0053 | 10 | c.-33 others(19): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 130 | chr2 | TogoVar | ||||||
C2orf50_chr2_11128128_11156317 | 11133310 | G | GCACACAC others(3): Show |
5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01175.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0019others(12): Show | a0001c0001t0003g0004a0001c0001t0003g0010a0001c0001t0003g0039others(28): Show | 41 | 380 | 0.1079 | 10 | c.-17 others(16): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/3 | 7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
C2orf50_chr2_11128128_11156317 | 11144821 | C | CTCTCTTT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0211 | 1 | 380 | 0.0026 | 10 | c.*71 others(19): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 3/3 | 712 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
C2orf50_chr2_11128128_11156317 | 11148732 | C | CTTTTTTT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01243.hp2 others(41): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0019others(13): Show | a0001c0001t0003g0004a0001c0001t0003g0010a0001c0001t0003g0039others(30): Show | 44 | 380 | 0.1158 | 10 | c.*46 others(21): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 3/3 | 4642 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
C2orf68_chr2_85600254_85617066 | 85614979 | A | AGTGTGGT others(3): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG01433.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0010others(14): Show | 24 | 376 | 0.0638 | 10 | c.-30 others(21): Show |
C2orf68 | ENSG00000168887.11 | transcript | ENST00000306336.6 | protein_coding | 2914 | chr2 | TogoVar |