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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP70_chr10_73248762_73363864 | 73351071 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02486.hp2 others(6): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0002a0004c0004t0001 | a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0009 others(6): Show |
9 | 165 | 0.0545 | -18 | c.250 others(35): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 3/27 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1955018 | AGGAAGTG others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(129): Show |
a0001a0002a0003others(25): Show | a0001c0003a0001c0010a0001c0013others(55): Show | a0001c0003t0001a0001c0010t0001a0001c0010t0007others(58): Show | a0001c0003t0001g0053 a0001c0003t0001g0088 a0001c0003t0001g0091 others(129): Show |
132 | 219 | 0.6027 | -18 | c.217 others(35): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 2005910 | CTCTCTCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02135.hp2 HG02145.hp1 NA18612.hp1 others(4): Show |
a0002a0006a0008others(2): Show | a0002c0006a0002c0020a0006c0026others(3): Show | a0002c0006t0001a0002c0020t0001a0006c0026t0002others(3): Show | a0002c0006t0001g0020 a0002c0006t0001g0080 a0002c0020t0001g0131 others(4): Show |
7 | 276 | 0.0254 | -18 | c.-22 others(29): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 2125 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 2007872 | GGTGGTGG others(11): Show |
G | upstream_gene_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0246 | 1 | 276 | 0.0036 | -18 | c.-42 others(29): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 4087 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132561645 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02723.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0190 a0001c0004t0001g0270 a0001c0004t0002g0201 |
3 | 320 | 0.0094 | -18 | c.733 others(37): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119730601 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA18906.hp2 NA20300.hp2 |
a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0009 a0001c0009t0005g0105 |
3 | 40 | 0.0750 | -18 | c.101 others(35): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02129.hp2 NA19007.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0128 a0001c0001t0001g0151 |
4 | 16 | 0.2500 | -18 | c.146 others(35): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128953600 | CCCCTCTC others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0332 a0001c0001t0005g0333 |
2 | 329 | 0.0061 | -18 | c.135 others(37): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69843554 | CCTCCTTC others(11): Show |
C | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 320 | 0.0031 | -18 | c.153 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843557 | CCTTCTTC others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0124 a0001c0001t0001g0203 others(1): Show |
5 | 236 | 0.0212 | -18 | c.153 others(33): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2446368 | GTTATTAT others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(233): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0026 others(216): Show |
236 | 279 | 0.8459 | -18 | c.642 others(35): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFB_chr6_31941095_31957084 | 31948097 | CCCTGAAC others(11): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 430 | 0.0023 | -18 | c.897 others(31): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 6/17 | chr6 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75297145 | CTTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 203 | 0.0049 | -18 | c.810 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349650 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(3): Show |
6 | 297 | 0.0202 | -18 | c.651 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75384852 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0139 a0001c0002t0001g0031 a0001c0002t0001g0038 others(1): Show |
4 | 38 | 0.1053 | -18 | c.650 others(37): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75393737 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02135.hp2 HG02698.hp2 HG03098.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0032 others(7): Show |
10 | 14 | 0.7143 | -18 | c.650 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75410055 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02523.hp2 HG04204.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 |
3 | 13 | 0.2308 | -18 | c.530 others(35): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 862217 | AAGAAGGG others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 286 | 0.0035 | -18 | c.615 others(33): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196823095 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show |
a0003a0006 | a0003c0005a0006c0008 | a0003c0005t0001a0006c0008t0001 | a0003c0005t0001g0008 a0006c0008t0001g0008 |
5 | 274 | 0.0182 | -18 | c.59- others(33): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196773675 | TATATATA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 NA18947.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0003 | a0002c0001t0002g0009 a0002c0001t0003g0085 |
2 | 260 | 0.0077 | -18 | c.-12 others(29): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 1164 | chr1 | TogoVar | |||||||
CFHR5_chr1_196972556_197014678 | 196999724 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0194 |
2 | 353 | 0.0057 | -18 | c.114 others(37): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196674872 | AAAAATAA others(11): Show |
A | intron_variant | MODIFIER | NA18946.hp2 NA18970.hp1 NA18980.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0211 a0001c0001t0001g0223 others(1): Show |
4 | 306 | 0.0131 | -18 | c.350 others(33): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714660 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0110 | 1 | 285 | 0.0035 | -18 | c.151 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714662 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02148.hp2 HG04184.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 a0002c0002t0001g0064 a0002c0002t0001g0084 others(1): Show |
4 | 272 | 0.0147 | -18 | c.151 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714664 | TATATAGA others(11): Show |
T | intron_variant | MODIFIER | HG02074.hp2 HG02165.hp2 HG02300.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0189 others(1): Show |
4 | 246 | 0.0163 | -18 | c.151 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714666 | TATAGAGA others(11): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0168 | 1 | 230 | 0.0043 | -18 | c.151 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | TAGAGAGA others(11): Show |
T | intron_variant | MODIFIER | HG01952.hp2 NA18971.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 a0002c0002t0001g0035 |
2 | 137 | 0.0146 | -18 | c.151 others(35): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114036 | ATATATAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0133 | a0001c0001t0133g0062 | 1 | 232 | 0.0043 | -18 | c.-25 others(29): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2127 | chr2 | TogoVar | |||||||
CFTR_chr7_117475025_117673665 | 117612036 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(1): Show |
a0001a0012 | a0001c0005a0001c0006a0012c0024 | a0001c0005t0003a0001c0006t0003a0012c0024t0003 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0006t0003g0015 others(1): Show |
4 | 200 | 0.0200 | -18 | c.336 others(35): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612050 | TATACATA others(11): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 200 | 0.0050 | -18 | c.336 others(35): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | TogoVar | |||||||
CGB1_chr19_49030569_49041895 | 49032686 | GCCGGGGC others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 374 | 0.0027 | -18 | c.*29 others(29): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 2882 | chr19 | TogoVar | |||||||
CGB2_chr19_49026890_49038238 | 49032686 | GCCGGGGC others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | -18 | c.177 others(31): Show |
CGB2 | ENSG00000104818.15 | transcript | ENST00000359342.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57374538 | TTGTGTGT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02965.hp1 NA20300.hp2 |
a0002a0021 | a0002c0002a0021c0035 | a0002c0002t0007a0002c0002t0042a0021c0035t0012 | a0002c0002t0007g0259 a0002c0002t0042g0005 a0021c0035t0012g0284 |
3 | 34 | 0.0882 | -18 | c.-20 others(29): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1966 | chr15 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57475492 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(67): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0102 others(67): Show |
70 | 75 | 0.9333 | -18 | c.240 others(39): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57513278 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01952.hp1 HG01993.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0042 a0001c0001t0002g0225 a0003c0003t0002g0177 |
3 | 292 | 0.0103 | -18 | c.240 others(37): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57529559 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0192 | 1 | 16 | 0.0625 | -18 | c.320 others(35): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGN_chr1_151506387_151543692 | 151511435 | TGCCCGAG others(11): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0211 | 1 | 30 | 0.0333 | -18 | c.-64 others(25): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 1/21 | 7037 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151528162 | TGTTTCAC others(11): Show |
T | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 380 | 0.0026 | -18 | c.189 others(37): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116871 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp1 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0136 a0001c0001t0001g0150 others(6): Show |
10 | 166 | 0.0602 | -18 | c.-12 others(35): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHADL_chr22_41224513_41245931 | 41242143 | CATATATA others(11): Show |
C | upstream_gene_variant | MODIFIER | NA18977.hp1 NA18983.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0093 |
3 | 82 | 0.0366 | -18 | c.-12 others(29): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | |||||||
CHAT_chr10_49609037_49672942 | 49666237 | CCCAGCCC others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02976.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0028 | a0001c0001t0016g0026 a0001c0001t0016g0218 a0001c0001t0028g0341 |
4 | 416 | 0.0096 | -18 | c.*12 others(29): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 15/15 | 1233 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD3_chr7_132779870_133087090 | 132799007 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0150 a0001c0001t0001g0212 a0001c0001t0001g0309 others(1): Show |
4 | 48 | 0.0833 | -18 | c.525 others(35): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 21 | 0.0476 | -18 | c.525 others(37): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132882461 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(103): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(103): Show |
106 | 112 | 0.9464 | -18 | c.453 others(35): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132914123 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | NA18980.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0086 |
2 | 82 | 0.0244 | -18 | c.370 others(37): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 133050340 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 102 | 0.0098 | -18 | c.169 others(37): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126715716 | CTTGCTAT others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0136 a0002c0002t0001g0002 a0002c0002t0001g0003 others(83): Show |
86 | 214 | 0.4019 | -18 | c.87+ others(35): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126755865 | TGTGTAGA others(11): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0091 |
2 | 214 | 0.0093 | -18 | c.411 others(37): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | chr3 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126856304 | CATGGATT others(11): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 214 | 0.0047 | -18 | c.495 others(35): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862225 | TCCTCCTC others(11): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0212 |
2 | 202 | 0.0099 | -18 | c.495 others(35): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |