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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP97D2_chr13_114174257_114228085 | 114214912 | CTTAAT | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0044others(82): Show | 98 | 400 | 0.2450 | -5 | c.291 others(22): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185179366 | AAGTAG | A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01081.hp2 others(22): Show |
a0001 | a0001c0003a0001c0005a0001c0016 | a0001c0003t0004a0001c0005t0005a0001c0016t0005 | a0001c0003t0004g0032a0001c0003t0004g0033a0001c0003t0004g0034others(21): Show | 25 | 350 | 0.0714 | -5 | c.105 others(24): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2426309 | AGGCCC | A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00738.hp2 others(49): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0001c0006others(8): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(8): Show | a0001c0002t0001g0004a0001c0002t0001g0033a0001c0002t0001g0134others(48): Show | 52 | 350 | 0.1486 | -5 | c.-17 others(20): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFB_chr6_31941095_31957084 | 31955769 | CTTGTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp2 others(44): Show |
a0001a0005a0008 | a0001c0001a0005c0007a0008c0010 | a0001c0001t0001a0005c0007t0001a0008c0010t0001 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0015others(3): Show | 47 | 431 | 0.1091 | -5 | c.*37 others(16): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 3686 | chr6 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75310458 | TTTTTC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(1): Show | 4 | 314 | 0.0127 | -5 | c.651 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75356907 | CTTTCT | C | intron_variant | MODIFIER | HG01257.hp2 HG01433.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0190a0001c0001t0001g0191others(7): Show | 10 | 314 | 0.0319 | -5 | c.650 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75358139 | AATAAT | A | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01433.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(11): Show | 14 | 314 | 0.0446 | -5 | c.650 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75400285 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011others(132): Show | 135 | 314 | 0.4299 | -5 | c.531 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75402913 | ATATAT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0133others(13): Show | 16 | 314 | 0.0510 | -5 | c.531 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75410055 | CAAAAA | C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0192a0001c0001t0001g0193others(3): Show | 6 | 314 | 0.0191 | -5 | c.530 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196830403 | GATATT | G | intron_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show |
a0003a0008 | a0003c0005a0008c0008 | a0003c0005t0001a0008c0008t0001 | a0003c0005t0001g0008a0008c0008t0001g0008 | 5 | 275 | 0.0182 | -5 | c.608 others(18): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196964262 | ATTGTT | A | downstream_gene_variant | MODIFIER | HG02004.hp1 HG02165.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 3 | 370 | 0.0081 | -5 | c.*51 others(16): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 4641 | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196885545 | TATATC | T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02647.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025a0002c0002t0001g0026a0002c0002t0001g0051others(4): Show | 9 | 350 | 0.0257 | -5 | c.-26 others(16): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2506 | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196973802 | TTATTA | T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(32): Show |
a0001a0007a0009 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0007t0003others(3): Show | a0001c0001t0003g0029a0001c0001t0003g0030a0001c0001t0003g0031others(28): Show | 35 | 356 | 0.0983 | -5 | c.-38 others(16): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 3753 | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196702535 | AAAAAC | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01099.hp1 others(39): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0039others(39): Show | 42 | 308 | 0.1364 | -5 | c.133 others(26): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109753593 | AAATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(101): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0012 | a0001c0001t0001a0001c0002t0001a0008c0012t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(99): Show | 104 | 354 | 0.2938 | -5 | c.905 others(22): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201115041 | CTGGAG | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0042a0001c0002t0045a0001c0002t0046 | a0001c0002t0042g0045a0001c0002t0045g0043a0001c0002t0046g0018 | 3 | 234 | 0.0128 | -5 | c.-15 others(16): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 1122 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201124322 | GTGTTT | G | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp2 HG06807.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0041a0001c0007t0061a0001c0007t0062 | a0001c0002t0041g0042a0001c0007t0061g0004a0001c0007t0062g0004 | 3 | 234 | 0.0128 | -5 | c.-13 others(24): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201134640 | TTAAAA | T | intron_variant | MODIFIER | HG00621.hp2 HG02055.hp1 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0005a0001c0001t0034a0001c0002t0114others(6): Show | a0001c0001t0005g0162a0001c0001t0034g0064a0001c0002t0114g0205others(6): Show | 9 | 234 | 0.0385 | -5 | c.388 others(22): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117584930 | GTTTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(106): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(105): Show | 109 | 202 | 0.5396 | -5 | c.158 others(24): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73426281 | CAAAAT | C | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0013 | a0001c0002t0008g0005a0001c0002t0008g0118a0001c0002t0013g0035 | 5 | 410 | 0.0122 | -5 | c.121 others(22): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88054916 | TTAAGG | T | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01081.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0005g0008a0001c0001t0006g0009a0001c0001t0007g0011others(5): Show | 32 | 358 | 0.0894 | -5 | c.*55 others(14): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 4/4 | 552 | chr3 | TogoVar | |||||
CGGBP1_chr3_88046950_88064005 | 88056729 | TACTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(229): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0019others(31): Show | 232 | 358 | 0.6480 | -5 | c.-24 others(20): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57378363 | GTTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00741.hp1 others(30): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(17): Show | a0001c0001t0001g0102a0001c0001t0001g0104a0001c0001t0001g0107others(30): Show | 33 | 294 | 0.1122 | -5 | c.-16 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57383595 | CCTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(96): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0185a0001c0001t0001g0188a0001c0001t0001g0189others(95): Show | 99 | 294 | 0.3367 | -5 | c.-16 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57393929 | CTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(9): Show | a0001c0001t0001g0165a0001c0001t0001g0190a0001c0001t0004g0021others(18): Show | 21 | 294 | 0.0714 | -5 | c.-16 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57464670 | TTTTCC | T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(49): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0102a0001c0001t0001g0107a0001c0001t0001g0118others(49): Show | 52 | 294 | 0.1769 | -5 | c.240 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57468234 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00735.hp1 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(13): Show | a0001c0001t0001g0065a0001c0001t0001g0078a0001c0001t0001g0109others(26): Show | 29 | 294 | 0.0986 | -5 | c.240 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57473899 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp2 others(36): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0039others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0044a0001c0001t0001g0126a0001c0001t0001g0127others(36): Show | 39 | 294 | 0.1327 | -5 | c.240 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57510133 | CGATTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02717.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0004a0002c0002t0014a0006c0007t0009 | a0001c0001t0004g0047a0001c0001t0004g0146a0001c0001t0004g0163others(3): Show | 6 | 294 | 0.0204 | -5 | c.240 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57543222 | CCACTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(42): Show |
a0002a0005a0007others(2): Show | a0002c0002a0002c0008a0002c0026others(5): Show | a0002c0002t0003a0002c0002t0018a0002c0008t0003others(9): Show | a0002c0002t0003g0031a0002c0002t0003g0041a0002c0002t0003g0068others(42): Show | 45 | 294 | 0.1531 | -5 | c.329 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27116919 | CTCTCT | C | intron_variant | MODIFIER | HG01106.hp2 HG02071.hp2 NA19086.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0262a0001c0002t0001g0161a0003c0005t0001g0261 | 3 | 352 | 0.0085 | -5 | c.-12 others(22): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54504964 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01243.hp1 others(36): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008a0002c0002t0002g0012a0002c0002t0002g0013others(24): Show | 39 | 338 | 0.1154 | -5 | c.-49 others(16): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4941 | chr14 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54513566 | TTTATG | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(127): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010others(72): Show | 130 | 338 | 0.3846 | -5 | c.104 others(22): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4419029 | ATTTTT | A | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01891.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0003a0001c0001t0004a0007c0010t0006 | a0001c0001t0003g0323a0001c0001t0003g0324a0001c0001t0003g0326others(8): Show | 11 | 384 | 0.0287 | -5 | c.101 others(22): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4427136 | CTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01070.hp1 others(11): Show |
a0002a0005 | a0002c0002a0002c0011a0005c0006 | a0002c0002t0002a0002c0002t0011a0002c0011t0002others(1): Show | a0002c0002t0002g0018a0002c0002t0002g0030a0002c0002t0002g0032others(11): Show | 14 | 384 | 0.0365 | -5 | c.137 others(24): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36383467 | CTGAGT | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0041a0001c0001t0001g0090a0001c0001t0014g0065others(1): Show | 4 | 346 | 0.0116 | -5 | c.-20 others(16): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 1924 | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36405042 | CGCCCA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(181): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | 184 | 346 | 0.5318 | -5 | c.757 others(22): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAMP1_chr13_114309503_114332322 | 114312771 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004a0001c0003t0001g0012a0001c0003t0001g0064 | 6 | 414 | 0.0145 | -5 | c.-20 others(16): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1731 | chr13 | TogoVar | ||||||
CHAMP1_chr13_114309503_114332322 | 114318857 | CTTTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG01433.hp2 others(31): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0006 | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(2): Show | a0001c0002t0001g0007a0001c0002t0001g0016a0001c0002t0001g0055others(15): Show | 34 | 414 | 0.0821 | -5 | c.-17 others(24): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CHAMP1_chr13_114309503_114332322 | 114318882 | TTTTTA | T | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0028a0001c0003t0001g0058others(2): Show | 9 | 414 | 0.0217 | -5 | c.-17 others(24): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49630155 | TCAGTA | T | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0254a0001c0001t0003g0031a0001c0001t0003g0032 | 3 | 418 | 0.0072 | -5 | c.111 others(24): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49644660 | CAGAGT | C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01943.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0318a0001c0001t0003g0353a0001c0001t0004g0109others(8): Show | 12 | 418 | 0.0287 | -5 | c.111 others(24): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD3_chr7_132779870_133087090 | 132822820 | AAAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(9): Show | 12 | 310 | 0.0387 | -5 | c.524 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132849976 | CTATTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0048a0001c0001t0001g0050a0001c0001t0001g0051others(44): Show | 47 | 310 | 0.1516 | -5 | c.454 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133012786 | AGAGGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(210): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(210): Show | 213 | 310 | 0.6871 | -5 | c.251 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD5_chr2_112579609_112594040 | 112580082 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(16): Show | 114 | 444 | 0.2568 | -5 | c.-45 others(16): Show |
CHCHD5 | ENSG00000125611.16 | transcript | ENST00000324913.10 | protein_coding | 4526 | chr2 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126808454 | CATGTT | C | intron_variant | MODIFIER | NA18612.hp1 NA19009.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057a0002c0002t0001g0061 | 2 | 216 | 0.0093 | -5 | c.412 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126892953 | GTTGTT | G | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01167.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(3): Show | 6 | 216 | 0.0278 | -5 | c.496 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126913207 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(47): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0087others(47): Show | 50 | 216 | 0.2315 | -5 | c.496 others(22): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |