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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP54_chr12_96484577_96880555 | 96674336 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01928.hp2 HG02486.hp1 others(7): Show |
a0007a0012a0019others(3): Show | a0007c0028a0007c0071a0007c0077others(5): Show | a0007c0028t0001a0007c0071t0001a0007c0077t0001others(5): Show | a0007c0028t0001g0181a0007c0028t0001g0182a0007c0071t0001g0180others(7): Show | 10 | 268 | 0.0373 | -7 | c.556 others(26): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96874620 | TATTTTTA | T | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG00741.hp1 others(15): Show |
a0002a0006a0009others(7): Show | a0002c0007a0006c0049a0009c0008others(8): Show | a0002c0007t0001a0006c0049t0001a0009c0008t0001others(8): Show | a0002c0007t0001g0137a0002c0007t0001g0154a0006c0049t0001g0043others(15): Show | 18 | 268 | 0.0672 | -7 | c.*15 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | chr12 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43186610 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(78): Show |
a0002a0003a0010others(4): Show | a0002c0006a0002c0019a0002c0028others(8): Show | a0002c0006t0001a0002c0019t0001a0002c0028t0001others(8): Show | a0002c0006t0001g0003a0002c0006t0001g0036a0002c0006t0001g0041others(78): Show | 81 | 308 | 0.2630 | -7 | c.970 others(20): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20118294 | TTTCTTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 HG02896.hp2 others(1): Show |
a0002a0006 | a0002c0009a0006c0011 | a0002c0009t0001a0002c0009t0002a0006c0011t0002 | a0002c0009t0001g0105a0002c0009t0002g0104a0002c0009t0002g0106others(1): Show | 4 | 236 | 0.0170 | -7 | c.859 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20338636 | CTTTAAAG | C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02486.hp1 others(9): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0006a0001c0026others(3): Show | a0001c0001t0003a0001c0006t0003a0001c0026t0001others(6): Show | a0001c0001t0003g0052a0001c0001t0003g0053a0001c0001t0003g0090others(9): Show | 12 | 236 | 0.0509 | -7 | c.342 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90264105 | ATATATAT | A | intron_variant | MODIFIER | HG00597.hp1 HG02615.hp1 HG02976.hp1 others(9): Show |
a0001 | a0001c0002a0001c0006a0001c0012 | a0001c0002t0002a0001c0006t0001a0001c0012t0002 | a0001c0002t0002g0024a0001c0002t0002g0117a0001c0002t0002g0123others(9): Show | 12 | 338 | 0.0355 | -7 | c.357 others(24): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73256902 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(70): Show |
a0002a0004a0006others(2): Show | a0002c0002a0002c0013a0004c0004others(3): Show | a0002c0002t0001a0002c0013t0001a0004c0004t0001others(3): Show | a0002c0002t0001g0022a0002c0002t0001g0024a0002c0002t0001g0026others(70): Show | 73 | 220 | 0.3318 | -7 | c.323 others(24): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 26/27 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1932073 | AAAAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(59): Show |
a0001a0004a0008others(8): Show | a0001c0001a0001c0006a0001c0020others(17): Show | a0001c0001t0001a0001c0006t0001a0001c0020t0001others(17): Show | a0001c0001t0001g0007a0001c0001t0001g0022a0001c0001t0001g0050others(59): Show | 62 | 278 | 0.2230 | -7 | c.301 others(26): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132446743 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(11): Show |
a0001a0004a0008 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0001t0001g0174a0001c0001t0001g0194a0001c0001t0001g0210others(11): Show | 14 | 322 | 0.0435 | -7 | c.195 others(26): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP90_chr5_7825378_7856133 | 7854351 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01261.hp1 HG02280.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0002c0002t0001a0004c0004t0005 | a0001c0001t0002g0102a0002c0002t0001g0006a0004c0004t0005g0022others(3): Show | 8 | 420 | 0.0191 | -7 | c.-33 others(18): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 3219 | chr5 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG02145.hp1 others(4): Show |
a0001a0007a0015others(1): Show | a0001c0001a0001c0002a0007c0011others(2): Show | a0001c0001t0001a0001c0002t0002a0007c0011t0009others(2): Show | a0001c0001t0001g0228a0001c0001t0001g0284a0001c0002t0002g0036others(4): Show | 7 | 386 | 0.0181 | -7 | c.146 others(24): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128918940 | ATTTTTTT | A | intron_variant | MODIFIER | HG02040.hp1 HG02055.hp2 HG02056.hp2 others(19): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0008a0002c0004t0002g0081a0002c0004t0002g0297others(18): Show | 22 | 342 | 0.0643 | -7 | c.275 others(26): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128924432 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(46): Show |
a0001a0008a0010 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(45): Show | 49 | 342 | 0.1433 | -7 | c.275 others(26): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128926246 | CGCCTGTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(190): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(186): Show | 193 | 342 | 0.5643 | -7 | c.275 others(26): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128979944 | AATAATAT | A | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp2 HG03209.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0317a0002c0004t0002g0318a0002c0004t0002g0319others(1): Show | 4 | 342 | 0.0117 | -7 | c.668 others(24): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185170983 | CAAAAAAA | C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0011 | a0001c0001t0003g0154a0001c0001t0003g0157a0001c0001t0003g0177others(2): Show | 6 | 350 | 0.0171 | -7 | c.132 others(26): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2432981 | CCCCCAGG | C | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp1 HG02486.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0005others(2): Show | a0001c0002t0001g0022a0001c0002t0001g0049a0001c0002t0001g0207others(10): Show | 14 | 350 | 0.0400 | -7 | c.112 others(24): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFDP1_chr16_75288710_75438503 | 75301536 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01109.hp2 others(40): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0127others(40): Show | 43 | 314 | 0.1369 | -7 | c.809 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75346582 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01433.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0105a0001c0001t0001g0114a0001c0001t0001g0191others(9): Show | 12 | 314 | 0.0382 | -7 | c.651 others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349731 | GATCTTGT | G | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0056a0001c0002t0001g0057a0001c0002t0001g0058others(1): Show | 4 | 314 | 0.0127 | -7 | c.651 others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75431911 | CTTTTTTT | C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(4): Show | 7 | 314 | 0.0223 | -7 | c.64+ others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864446 | GGCCCTGT | G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0034 | 3 | 287 | 0.0105 | -7 | c.*12 others(18): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 806 | chr19 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196996870 | AAGTAAGT | A | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0005 | a0002c0004t0001g0129a0002c0004t0001g0130a0002c0004t0001g0131others(1): Show | 5 | 356 | 0.0140 | -7 | c.970 others(22): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109753554 | TATAAATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(84): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0017others(83): Show | 87 | 354 | 0.2458 | -7 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753589 | AAATAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(84): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0017others(83): Show | 87 | 354 | 0.2458 | -7 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114039 | TATATATA | T | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03486.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0115 | a0001c0002t0011g0017a0001c0002t0115g0200 | 3 | 234 | 0.0128 | -7 | c.-25 others(18): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2124 | chr2 | TogoVar | ||||||
CGB7_chr19_49049274_49062749 | 49060036 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03831.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052a0001c0001t0002g0002 | 9 | 422 | 0.0213 | -7 | c.-39 others(18): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57378363 | GTTTTTTT | G | intron_variant | MODIFIER | HG01256.hp2 HG01993.hp2 HG02080.hp1 others(20): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0039a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0044a0001c0001t0001g0268a0001c0001t0001g0272others(20): Show | 23 | 294 | 0.0782 | -7 | 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 | 57405829 | TTTCTTTC | T | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01256.hp2 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0011a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0065a0001c0001t0001g0082a0001c0001t0002g0067others(24): Show | 27 | 294 | 0.0918 | -7 | c.-16 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57518141 | AAAAAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(69): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0059a0001c0001t0001g0073a0001c0001t0001g0102others(68): Show | 72 | 294 | 0.2449 | -7 | c.261 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27116916 | TCTCTCTC | T | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0050a0001c0002t0004g0013a0001c0002t0004g0147 | 4 | 352 | 0.0114 | -7 | c.-12 others(24): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHAC1_chr15_40948471_40961512 | 40951595 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0009 | 10 | 420 | 0.0238 | -7 | c.-19 others(18): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(42): Show |
a0002a0005a0011 | a0002c0002a0005c0006a0011c0017 | a0002c0002t0002a0005c0006t0002a0011c0017t0002 | a0002c0002t0002g0001a0002c0002t0002g0003a0002c0002t0002g0004others(37): Show | 45 | 384 | 0.1172 | -7 | c.104 others(22): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4427136 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01167.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0004t0002others(3): Show | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0131others(14): Show | 17 | 384 | 0.0443 | -7 | c.137 others(26): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36381110 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(85): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0001g0119others(81): Show | 88 | 346 | 0.2543 | -7 | c.-44 others(18): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 4281 | chr21 | TogoVar | ||||||
CHAMP1_chr13_114309503_114332322 | 114331396 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG01433.hp2 others(36): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0006others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(4): Show | a0001c0002t0001g0007a0001c0002t0001g0016a0001c0002t0001g0055others(21): Show | 39 | 414 | 0.0942 | -7 | c.*51 others(18): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 4075 | chr13 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49617170 | TCTTCCCC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0003t0021 | a0001c0001t0002g0296a0001c0001t0008g0297a0001c0001t0008g0299others(1): Show | 4 | 418 | 0.0096 | -7 | c.387 others(22): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126919305 | CTTTTCTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(77): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0083others(77): Show | 80 | 216 | 0.3704 | -7 | c.566 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147299000 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02129.hp1 HG02257.hp1 others(14): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003a0004c0005t0002g0060a0004c0005t0002g0061others(10): Show | 17 | 418 | 0.0407 | -7 | c.*34 others(18): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98851539 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01433.hp2 others(15): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0001c0003t0006a0001c0003t0028others(5): Show | a0001c0003t0002g0050a0001c0003t0002g0056a0001c0003t0002g0227others(14): Show | 18 | 334 | 0.0539 | -7 | c.*48 others(18): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2445 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98881252 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0052a0001c0003t0006g0053a0001c0003t0006g0054others(6): Show | 9 | 334 | 0.0270 | -7 | c.296 others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 21/35 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92916011 | ACTCTCTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(108): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0016others(105): Show | 111 | 306 | 0.3628 | -7 | c.63- others(22): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92999083 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01123.hp2 others(24): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0034a0001c0001t0001g0035others(23): Show | 27 | 306 | 0.0882 | -7 | c.400 others(24): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD5_chr1_6096787_6185321 | 6166708 | GGGGAAGT | G | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01070.hp2 others(94): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(27): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(66): Show | a0001c0001t0003g0282a0001c0001t0005g0251a0001c0001t0007g0258others(94): Show | 97 | 320 | 0.3031 | -7 | c.207 others(24): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 2/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAAAA | C | intron_variant | MODIFIER | HG00597.hp2 HG02004.hp1 HG02273.hp1 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0211a0001c0001t0001g0294a0001c0001t0001g0321others(11): Show | 14 | 324 | 0.0432 | -7 | c.612 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41504403 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(78): Show |
a0001a0012a0013others(2): Show | a0001c0001a0012c0019a0013c0022others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(78): Show | 81 | 324 | 0.2500 | -7 | c.853 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41609855 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01361.hp2 HG02055.hp1 others(16): Show |
a0001a0005a0012 | a0001c0001a0001c0003a0005c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0005c0007t0001others(1): Show | a0001c0001t0001g0144a0001c0001t0001g0210a0001c0001t0001g0211others(16): Show | 19 | 324 | 0.0586 | -7 | c.-24 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60678515 | TGCGGCCC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | 236 | 0.8220 | -7 | c.-74 others(16): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 224 | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60771671 | GGGGAGTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0006others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | 236 | 0.7627 | -7 | c.166 others(26): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60780897 | TGAGTATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(50): Show |
a0001a0004a0009others(3): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(50): Show | 53 | 236 | 0.2246 | -7 | c.166 others(23): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |