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 | 132459420 | G | GGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01109.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0009others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0001t0001g0024others(9): Show | 12 | 322 | 0.0373 | 6 | c.196 others(25): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132469838 | A | ATTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp2 HG02258.hp1 others(35): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0118others(35): Show | 38 | 322 | 0.1180 | 6 | c.196 others(25): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132485985 | C | CATATAT | intron_variant | MODIFIER | HG01934.hp1 HG02080.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0321a0001c0001t0002g0073a0001c0001t0002g0309 | 3 | 322 | 0.0093 | 6 | c.196 others(25): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132516590 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp1 others(28): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(28): Show | 31 | 322 | 0.0963 | 6 | c.524 others(25): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132559346 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01891.hp1 HG02145.hp1 others(3): Show |
a0001a0004a0008 | a0001c0001a0001c0004a0004c0009others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0001t0001g0144a0001c0004t0001g0167a0001c0004t0001g0270others(3): Show | 6 | 322 | 0.0186 | 6 | c.733 others(25): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132577646 | A | AAAAAAC | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02895.hp1 HG03688.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0218a0001c0002t0001g0150others(3): Show | 6 | 322 | 0.0186 | 6 | c.*51 others(17): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 4328 | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119722177 | T | TAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02559.hp2 others(3): Show |
a0001a0002a0017 | a0001c0001a0002c0004a0017c0020 | a0001c0001t0004a0002c0004t0004a0017c0020t0026 | a0001c0001t0004g0012a0001c0001t0004g0160a0002c0004t0004g0026others(1): Show | 6 | 386 | 0.0155 | 6 | c.683 others(23): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119730601 | A | AGTGTGT | intron_variant | MODIFIER | HG02055.hp2 HG02155.hp1 HG02486.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0018a0002c0004t0001others(1): Show | a0001c0001t0001g0201a0001c0001t0001g0213a0001c0003t0018g0334others(3): Show | 6 | 386 | 0.0155 | 6 | c.101 others(23): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01243.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0006a0001c0003t0004others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0019others(26): Show | 33 | 386 | 0.0855 | 6 | c.146 others(23): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119740835 | T | TTGTGTG | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG02109.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0130a0001c0002t0002g0040a0001c0002t0002g0100others(9): Show | 14 | 386 | 0.0363 | 6 | c.168 others(23): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128953567 | G | GTCTCCC | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01109.hp1 others(12): Show |
a0001a0017 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0004others(1): Show | a0001c0001t0001g0163a0001c0001t0001g0255a0001c0001t0001g0283others(12): Show | 15 | 342 | 0.0439 | 6 | c.135 others(25): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128953625 | C | CTCTCCG | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02148.hp1 others(3): Show |
a0001a0017 | a0001c0001a0001c0002a0017c0014 | a0001c0001t0001a0001c0002t0001a0017c0014t0001 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0151others(3): Show | 6 | 342 | 0.0175 | 6 | c.135 others(25): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128956977 | C | CAAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG02109.hp1 HG02257.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(4): Show | a0001c0001t0003a0001c0003t0001a0001c0021t0001others(4): Show | a0001c0001t0003g0145a0001c0001t0003g0148a0001c0003t0001g0004others(16): Show | 20 | 342 | 0.0585 | 6 | c.135 others(25): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128979947 | A | AATATAT | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01081.hp1 others(15): Show |
a0001a0010a0011 | a0001c0001a0001c0002a0010c0022others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0067a0001c0001t0001g0126a0001c0001t0001g0275others(15): Show | 18 | 342 | 0.0526 | 6 | c.668 others(23): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69820432 | G | GACACAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(47): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0134a0001c0001t0001g0149others(46): Show | 50 | 380 | 0.1316 | 6 | c.-44 others(15): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 384 | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTATATA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0136a0001c0001t0001g0189a0001c0001t0001g0190others(11): Show | 14 | 380 | 0.0368 | 6 | c.153 others(23): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843554 | C | CCTTCTT | intron_variant | MODIFIER | NA18945.hp1 NA18992.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0001g0323 | 3 | 380 | 0.0079 | 6 | c.153 others(21): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843557 | C | CCTTCTT | intron_variant | MODIFIER | HG01943.hp2 HG04204.hp1 NA18944.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0145a0001c0001t0001g0269others(1): Show | 4 | 380 | 0.0105 | 6 | c.153 others(21): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895335 | G | GTCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0089a0001c0001t0001g0100others(33): Show | 37 | 380 | 0.0974 | 6 | c.507 others(23): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895361 | C | CTGTGTG | intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0359a0001c0001t0001g0362others(3): Show | 6 | 380 | 0.0158 | 6 | c.507 others(23): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895363 | C | CTGTGTG | intron_variant | MODIFIER | HG02056.hp1 HG02717.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0363a0001c0002t0001g0294a0001c0002t0001g0331others(1): Show | 4 | 380 | 0.0105 | 6 | c.507 others(23): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895365 | C | CTGTGTG | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0026a0001c0001t0001g0046a0001c0001t0001g0079others(4): Show | 7 | 380 | 0.0184 | 6 | c.507 others(23): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69895369 | C | CTCTCTG | intron_variant | MODIFIER | NA18965.hp2 NA18989.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209a0001c0001t0001g0212a0001c0001t0001g0345 | 3 | 380 | 0.0079 | 6 | c.507 others(23): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D1_chr17_43775435_43792620 | 43786618 | T | TAACCAC | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG02559.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0016a0001c0002t0021others(4): Show | a0001c0002t0012g0005a0001c0002t0016g0005a0001c0002t0021g0005others(4): Show | 15 | 402 | 0.0373 | 6 | c.*22 others(17): Show |
CFAP97D1 | ENSG00000231256.8 | transcript | ENST00000449302.8 | protein_coding | 6/6 | 2733 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
CFAP97D2_chr13_114174257_114228085 | 114210855 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00621.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0044others(37): Show | 45 | 400 | 0.1125 | 6 | c.290 others(25): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185176109 | C | CTTTTTT | intron_variant | MODIFIER | HG01934.hp2 HG02145.hp2 HG03209.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0049a0001c0001t0002g0065a0001c0001t0002g0097others(5): Show | 8 | 350 | 0.0229 | 6 | c.105 others(21): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2415451 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(51): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0002t0001g0011a0001c0002t0001g0051a0001c0002t0001g0053others(47): Show | 54 | 350 | 0.1543 | 6 | c.-36 others(17): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 3503 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2417845 | G | GGGGGCA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0016 | a0001c0003a0001c0004a0001c0006others(2): Show | a0001c0003t0002a0001c0004t0002a0001c0006t0002others(2): Show | a0001c0003t0002g0039a0001c0004t0002g0043a0001c0004t0002g0044others(9): Show | 12 | 350 | 0.0343 | 6 | c.-12 others(17): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 1109 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2446368 | G | GTTATTA | intron_variant | MODIFIER | HG02257.hp2 NA18948.hp1 NA18952.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0001a0001c0003t0001a0001c0006t0002 | a0001c0002t0001g0055a0001c0002t0001g0057a0001c0002t0001g0076others(5): Show | 8 | 350 | 0.0229 | 6 | c.642 others(23): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75297145 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG02055.hp1 HG02293.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0201a0001c0001t0001g0234others(6): Show | 9 | 314 | 0.0287 | 6 | c.810 others(23): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75301536 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0101a0001c0001t0001g0107a0001c0001t0001g0113others(4): Show | 7 | 314 | 0.0223 | 6 | c.809 others(23): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75334199 | C | CACCCTA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(48): Show | 51 | 314 | 0.1624 | 6 | c.651 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75346582 | C | CAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01257.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0061a0001c0002t0001g0009a0001c0002t0001g0028others(20): Show | 23 | 314 | 0.0733 | 6 | c.651 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75347359 | A | AAAAAAG | intron_variant | MODIFIER | HG01981.hp2 HG02257.hp2 HG02717.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0100a0001c0001t0001g0120a0001c0001t0001g0121others(12): Show | 15 | 314 | 0.0478 | 6 | c.651 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75363942 | A | AACACAC | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01255.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(32): Show | 35 | 314 | 0.1115 | 6 | c.650 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75384852 | C | CTATATA | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0009 | a0001c0001t0001g0113a0001c0002t0001g0030a0001c0002t0001g0050others(13): Show | 16 | 314 | 0.0510 | 6 | c.650 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75394658 | C | CTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0193a0001c0001t0001g0207a0001c0001t0001g0230others(3): Show | 6 | 314 | 0.0191 | 6 | c.650 others(21): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75416851 | T | TAAAGCC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011others(132): Show | 135 | 314 | 0.4299 | 6 | c.65- others(21): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00673.hp1 others(32): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0003a0001c0002t0002g0007a0001c0002t0002g0022others(7): Show | 35 | 275 | 0.1273 | 6 | c.59- others(19): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR2_chr1_196938738_196964622 | 196943183 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(83): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(31): Show | 86 | 370 | 0.2324 | 6 | c.-69 others(15): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 554 | chr1 | TogoVar | ||||||
CFHR2_chr1_196938738_196964622 | 196945777 | A | AGTGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00738.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0034a0001c0001t0001g0035others(8): Show | 35 | 370 | 0.0946 | 6 | c.58+ others(21): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR3_chr1_196769840_196800407 | 196772636 | A | ACTCTCT | upstream_gene_variant | MODIFIER | HG02148.hp2 HG03130.hp2 HG03453.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(2): Show | a0001c0002t0001g0097a0001c0002t0004g0001a0001c0002t0004g0006others(5): Show | 13 | 261 | 0.0498 | 6 | c.-22 others(17): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2203 | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196772659 | C | CTCTATA | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03471.hp2 NA19240.hp2 |
a0002a0005 | a0002c0001a0005c0007 | a0002c0001t0003a0005c0007t0007 | a0002c0001t0003g0026a0002c0001t0003g0087a0005c0007t0007g0032 | 3 | 261 | 0.0115 | 6 | c.-22 others(17): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2180 | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196772659 | C | CTCTCTA | upstream_gene_variant | MODIFIER | HG01884.hp2 NA19030.hp1 NA19043.hp1 |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0018a0002c0001t0003g0088a0002c0001t0003g0089 | 3 | 261 | 0.0115 | 6 | c.-22 others(17): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2180 | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196885618 | A | AGAGAGG | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02630.hp1 HG02809.hp1 others(2): Show |
a0002a0005a0008 | a0002c0002a0005c0005a0008c0009 | a0002c0002t0001a0005c0005t0001a0008c0009t0001 | a0002c0002t0001g0032a0005c0005t0001g0017a0008c0009t0001g0050 | 5 | 350 | 0.0143 | 6 | c.-25 others(17): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2433 | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196979256 | C | CTGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG01952.hp2 HG02129.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0227others(11): Show | 16 | 356 | 0.0449 | 6 | c.58+ others(21): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999683 | G | GTATATA | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100a0001c0001t0003g0105a0001c0001t0003g0110 | 3 | 356 | 0.0084 | 6 | c.114 others(25): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999722 | T | TATATAC | intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 NA19030.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0085a0001c0001t0001g0219a0004c0008t0001g0133 | 3 | 356 | 0.0084 | 6 | c.114 others(25): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196671585 | A | AACACAC | intron_variant | MODIFIER | NA18947.hp2 NA18972.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0255a0001c0001t0001g0259 | 3 | 308 | 0.0097 | 6 | c.59- others(21): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196671587 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00639.hp2 others(66): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0039a0001c0001t0001g0041a0001c0001t0001g0043others(66): Show | 69 | 308 | 0.2240 | 6 | c.59- others(21): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |