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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP77_chr9_132405211_132578319 | 132478109 | ATCCCCAC others(4): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 | 1 | 322 | 0.0031 | -11 | c.196 others(30): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132550519 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01256.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0017a0001c0002t0002g0272 | 3 | 322 | 0.0093 | -11 | c.732 others(28): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132569728 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 HG01952.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0007a0001c0001t0002g0105a0001c0001t0002g0265others(1): Show | 4 | 322 | 0.0124 | -11 | c.733 others(28): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119714365 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 | 1 | 386 | 0.0026 | -11 | c.501 others(28): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03139.hp1 HG03225.hp1 others(3): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0006a0008c0012others(1): Show | a0001c0001t0001a0004c0006t0001a0008c0012t0010others(1): Show | a0001c0001t0001g0255a0004c0006t0001g0215a0008c0012t0010g0311others(3): Show | 6 | 386 | 0.0155 | -11 | c.146 others(28): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128948377 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02976.hp1 NA18946.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0002 | a0001c0001t0001g0231a0001c0001t0001g0232a0001c0001t0001g0233others(5): Show | 8 | 342 | 0.0234 | -11 | c.135 others(30): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128953743 | GTGCCTGC others(4): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02970.hp1 others(3): Show |
a0003a0007 | a0003c0006a0007c0028 | a0003c0006t0002a0007c0028t0002 | a0003c0006t0002g0180a0003c0006t0002g0181a0003c0006t0002g0182others(3): Show | 6 | 342 | 0.0175 | -11 | c.135 others(30): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843506 | CCTCCTCC others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01975.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0128a0001c0001t0001g0194a0001c0001t0001g0234others(2): Show | 5 | 380 | 0.0132 | -11 | c.153 others(27): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185206660 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG03225.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0069a0001c0005t0005g0075 | 2 | 350 | 0.0057 | -11 | c.-27 others(22): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 2661 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2446285 | CCTGCCTA others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG03579.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0086a0001c0004t0001g0305a0001c0004t0001g0311 | 3 | 350 | 0.0086 | -11 | c.642 others(26): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75346582 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0125a0001c0001t0001g0126others(17): Show | 20 | 314 | 0.0637 | -11 | c.651 others(30): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75353748 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 314 | 0.0032 | -11 | c.650 others(30): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75364879 | TTTGAGAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(129): Show | 132 | 314 | 0.4204 | -11 | c.650 others(30): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75393737 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(91): Show | 94 | 314 | 0.2994 | -11 | c.650 others(28): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75426035 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 314 | 0.0032 | -11 | c.64+ others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75431454 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 314 | 0.0032 | -11 | c.64+ others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 856724 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG03710.hp1 NA18986.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0013a0002c0002t0001 | a0001c0001t0003g0004a0001c0001t0013g0004a0002c0002t0001g0001 | 3 | 287 | 0.0105 | -11 | c.-29 others(22): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2939 | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 868321 | GGCTCAGG others(4): Show |
G | downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 287 | 0.0035 | -11 | c.*50 others(22): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 4681 | chr19 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196915458 | AACCCTGT others(4): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0170 | 1 | 350 | 0.0029 | -11 | c.154 others(28): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109752951 | ATACATAT others(4): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01123.hp2 others(33): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0085a0001c0001t0001g0099a0001c0001t0001g0100others(33): Show | 36 | 354 | 0.1017 | -11 | c.905 others(26): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109752994 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 354 | 0.0028 | -11 | c.905 others(26): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753206 | TATATATT others(4): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02280.hp2 HG03540.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0054a0001c0002t0001g0136a0003c0004t0001g0150 | 3 | 354 | 0.0085 | -11 | c.905 others(26): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753468 | TATTAATA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(108): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(106): Show | 111 | 354 | 0.3136 | -11 | c.905 others(26): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753530 | TAAATATT others(4): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0006a0001c0008 | a0001c0006t0005a0001c0008t0001a0001c0008t0002 | a0001c0006t0005g0041a0001c0006t0005g0042a0001c0008t0001g0293others(1): Show | 4 | 354 | 0.0113 | -11 | c.905 others(28): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114044 | ATATTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0043 | 1 | 234 | 0.0043 | -11 | c.-25 others(22): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2119 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201161738 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0098a0001c0001t0028g0109 | 2 | 234 | 0.0086 | -11 | c.130 others(28): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CGB3_chr19_49017869_49029333 | 49027240 | AAAAATAA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01891.hp1 others(29): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0002a0001c0001t0003g0003a0001c0001t0007g0011others(10): Show | 32 | 391 | 0.0818 | -11 | c.-32 others(22): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 2908 | chr19 | TogoVar | ||||||
CGB5_chr19_49038848_49050311 | 49050294 | CCTGGGCA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -11 | c.*50 others(22): Show |
CGB5 | ENSG00000189052.7 | transcript | ENST00000301408.7 | protein_coding | 4984 | chr19 | TogoVar | ||||||
CGB8_chr19_49042638_49054111 | 49050294 | CCTGGGCA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 394 | 0.0025 | -11 | c.-15 others(22): Show |
CGB8 | ENSG00000213030.6 | transcript | ENST00000448456.4 | protein_coding | 1184 | chr19 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | ATATTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 358 | 0.0028 | -11 | c.*51 others(22): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88050346 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 358 | 0.0028 | -11 | c.*51 others(22): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1603 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57374537 | TTTGTGTG others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0119 | 1 | 294 | 0.0034 | -11 | c.-20 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1967 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57379282 | AGCACATT others(4): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 294 | 0.0034 | -11 | c.-16 others(28): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57405753 | TCTTTTTC others(4): Show |
T | intron_variant | MODIFIER | HG02273.hp2 HG02886.hp1 NA18992.hp2 |
a0001a0002 | a0001c0005a0002c0002a0002c0008 | a0001c0005t0002a0002c0002t0008a0002c0008t0003 | a0001c0005t0002g0201a0002c0002t0008g0039a0002c0008t0003g0020 | 3 | 294 | 0.0102 | -11 | c.-16 others(30): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57405826 | CTTTTTCT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00642.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0025others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0059a0001c0001t0001g0108a0001c0001t0001g0131others(12): Show | 15 | 294 | 0.0510 | -11 | c.-16 others(30): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57437619 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 294 | 0.0034 | -11 | c.-15 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57473896 | CTTCTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0011 | a0011c0012 | a0011c0012t0043 | a0011c0012t0043g0010 | 1 | 294 | 0.0034 | -11 | c.240 others(32): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27116912 | TCTCTCTC others(4): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01496.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049a0001c0002t0002g0089 | 2 | 352 | 0.0057 | -11 | c.-12 others(28): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHAC1_chr15_40948471_40961512 | 40951595 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02004.hp2 HG02056.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(9): Show | 28 | 420 | 0.0667 | -11 | c.-19 others(22): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | ||||||
CHAD_chr17_50459496_50473880 | 50465873 | GGGGAGCA others(4): Show |
G | splice_region_variant others(1): Show |
LOW | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 386 | 0.0026 | -11 | c.775 others(23): Show |
CHAD | ENSG00000136457.10 | transcript | ENST00000508540.6 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG02074.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0023a0003c0004 | a0001c0001t0001a0002c0023t0002a0003c0004t0002 | a0001c0001t0001g0007a0001c0001t0001g0144a0001c0001t0001g0145others(9): Show | 13 | 384 | 0.0339 | -11 | c.104 others(26): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4418409 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(129): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0002c0011others(8): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0002others(10): Show | a0001c0001t0003g0323a0001c0001t0003g0324a0001c0001t0003g0326others(123): Show | 132 | 384 | 0.3438 | -11 | c.101 others(28): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4427136 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 384 | 0.0026 | -11 | c.137 others(30): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36396991 | TTCTCAGC others(4): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0042 | 1 | 346 | 0.0029 | -11 | c.482 others(26): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36397719 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01943.hp1 HG02148.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0022others(2): Show | a0001c0001t0003g0049a0001c0001t0008g0043a0001c0001t0008g0044others(7): Show | 10 | 346 | 0.0289 | -11 | c.578 others(26): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49649866 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0010a0001c0017a0001c0028 | a0001c0010t0003a0001c0010t0008a0001c0017t0003others(1): Show | a0001c0010t0003g0044a0001c0010t0003g0045a0001c0010t0003g0223others(8): Show | 11 | 418 | 0.0263 | -11 | c.151 others(28): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49656283 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01516.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0017others(4): Show | a0001c0001t0004a0001c0001t0007a0001c0005t0009others(5): Show | a0001c0001t0004g0005a0001c0001t0004g0261a0001c0001t0004g0288others(11): Show | 15 | 418 | 0.0359 | -11 | c.183 others(28): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD10_chr22_23760834_23772972 | 23771374 | ACTGAAGG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 431 | 0.0046 | -11 | c.-35 others(22): Show |
CHCHD10 | ENSG00000250479.9 | transcript | ENST00000484558.3 | protein_coding | 3403 | chr22 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132821747 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 310 | 0.0032 | -11 | c.524 others(30): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132919100 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 310 | 0.0032 | -11 | c.370 others(30): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar |