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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CGRRF1_chr14_54504906_54544292 | 54507734 | T | TTTTTTC | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01243.hp1 others(37): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008a0002c0002t0002g0012a0002c0002t0002g0013others(25): Show | 40 | 338 | 0.1183 | 6 | c.-22 others(17): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 2171 | chr14 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54514438 | C | CTGTTGT | intron_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01243.hp1 others(38): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008a0002c0002t0002g0012a0002c0002t0002g0013others(26): Show | 41 | 338 | 0.1213 | 6 | c.104 others(23): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CGRRF1_chr14_54504906_54544292 | 54535359 | T | TCACACA | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18948.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0023a0002c0002t0002g0198a0002c0002t0002g0200 | 4 | 338 | 0.0118 | 6 | c.571 others(23): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CH25H_chr10_89200629_89212317 | 89201056 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG02145.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0002g0000 | 4 | 384 | 0.0104 | 6 | c.*54 others(17): Show |
CH25H | ENSG00000138135.7 | transcript | ENST00000371852.4 | protein_coding | 4572 | chr10 | TogoVar | ||||||
CHAC1_chr15_40948471_40961512 | 40951595 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG03579.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(2): Show | 7 | 420 | 0.0167 | 6 | c.-19 others(17): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41234364 | C | CATTATT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(162): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0011a0001c0016others(4): Show | a0001c0001t0001a0001c0011t0001a0001c0016t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(81): Show | 165 | 414 | 0.3986 | 6 | c.226 others(23): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CHAD_chr17_50459496_50473880 | 50461927 | G | GGTGTGT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00642.hp2 others(40): Show |
a0001a0004 | a0001c0001a0001c0008a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0040a0001c0001t0002g0002a0001c0001t0002g0058others(7): Show | 43 | 386 | 0.1114 | 6 | c.*31 others(17): Show |
CHAD | ENSG00000136457.10 | transcript | ENST00000508540.6 | protein_coding | 2568 | chr17 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4399319 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00621.hp2 others(38): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0003others(6): Show | a0001c0001t0003g0324a0001c0001t0003g0326a0001c0001t0003g0328others(36): Show | 41 | 384 | 0.1068 | 6 | c.-34 others(17): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3320 | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp2 HG01261.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0026a0001c0001t0001g0160a0002c0002t0002g0054others(7): Show | 10 | 384 | 0.0260 | 6 | c.104 others(21): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36387219 | G | GTTTTTT | intron_variant | MODIFIER | HG01361.hp2 HG01943.hp1 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043a0001c0001t0008g0044a0001c0001t0008g0045others(3): Show | 6 | 346 | 0.0173 | 6 | c.127 others(21): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36389759 | A | ATGTGTG | intron_variant | MODIFIER | HG01175.hp1 NA18956.hp2 NA19005.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0010 | a0001c0001t0001g0183a0001c0001t0001g0199a0002c0002t0010g0078 | 3 | 346 | 0.0087 | 6 | c.260 others(23): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGCGC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00673.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0252a0001c0001t0001g0265a0001c0001t0002g0002others(31): Show | 39 | 346 | 0.1127 | 6 | c.260 others(23): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36390333 | C | CAAAAGA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0252a0001c0001t0001g0265a0001c0001t0001g0285others(76): Show | 85 | 346 | 0.2457 | 6 | c.260 others(23): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36396358 | C | CAAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0318a0001c0001t0001g0325others(5): Show | 9 | 346 | 0.0260 | 6 | c.482 others(23): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49648726 | T | TACACAC | intron_variant | MODIFIER | HG02165.hp1 HG02976.hp1 HG03225.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0016a0001c0003t0034a0003c0004t0001others(1): Show | a0001c0001t0016g0219a0001c0003t0034g0368a0003c0004t0001g0046others(2): Show | 5 | 418 | 0.0120 | 6 | c.138 others(23): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49669029 | T | TGAGAGA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01433.hp1 NA18997.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0008a0003c0007t0006 | a0001c0001t0008g0201a0001c0001t0008g0266a0003c0007t0006g0114 | 3 | 418 | 0.0072 | 6 | c.*39 others(17): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 1088 | chr10 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132799007 | C | CTGTGTG | intron_variant | MODIFIER | HG01169.hp2 HG04115.hp1 NA18942.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0240a0001c0001t0001g0250others(5): Show | 8 | 310 | 0.0258 | 6 | c.525 others(23): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | A | AATATAT | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02683.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0124a0001c0001t0001g0132others(6): Show | 9 | 310 | 0.0290 | 6 | c.525 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132824314 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0034others(58): Show | 61 | 310 | 0.1968 | 6 | c.524 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132879716 | T | TAAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG01516.hp1 HG01517.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0257a0001c0001t0001g0260others(6): Show | 9 | 310 | 0.0290 | 6 | c.453 others(23): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132882461 | C | CTATATA | intron_variant | MODIFIER | HG00639.hp1 HG02258.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0228a0001c0001t0001g0229 | 3 | 310 | 0.0097 | 6 | c.453 others(23): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132914123 | C | CGTGTGT | intron_variant | MODIFIER | HG00609.hp2 HG01070.hp1 HG02109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0051a0001c0001t0001g0128others(11): Show | 14 | 310 | 0.0452 | 6 | c.370 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132921628 | C | CACAACA | intron_variant | MODIFIER | HG01261.hp1 HG02622.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0147a0001c0001t0001g0148others(1): Show | 4 | 310 | 0.0129 | 6 | c.370 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGTGTGT | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01123.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0035a0001c0001t0001g0052others(21): Show | 24 | 310 | 0.0774 | 6 | c.369 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132963694 | T | TACACAC | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01070.hp1 others(45): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(45): Show | 48 | 310 | 0.1548 | 6 | c.369 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132965059 | A | ATGTGTG | intron_variant | MODIFIER | HG00597.hp1 HG01255.hp2 HG01361.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0047a0001c0001t0001g0076a0001c0001t0001g0083others(14): Show | 17 | 310 | 0.0548 | 6 | c.369 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132990951 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0015others(29): Show | 32 | 310 | 0.1032 | 6 | c.252 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126737390 | G | GTATATA | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0122a0001c0001t0001g0134a0001c0001t0001g0215others(5): Show | 8 | 216 | 0.0370 | 6 | c.411 others(23): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126739344 | T | TTTGTTG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(82): Show |
a0002a0003a0006others(1): Show | a0002c0002a0003c0004a0006c0008others(1): Show | a0002c0002t0001a0002c0002t0002a0003c0004t0001others(2): Show | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(82): Show | 85 | 216 | 0.3935 | 6 | c.411 others(23): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126755838 | A | ATGTGTG | intron_variant | MODIFIER | HG01070.hp1 HG02055.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188a0001c0001t0001g0191a0001c0001t0001g0192others(2): Show | 5 | 216 | 0.0232 | 6 | c.411 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126764200 | C | CATATAT | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02055.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0089a0001c0001t0001g0191a0001c0001t0001g0193others(5): Show | 8 | 216 | 0.0370 | 6 | c.411 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126823880 | T | TACAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01069.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(20): Show | 23 | 216 | 0.1065 | 6 | c.412 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01123.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(27): Show | 30 | 216 | 0.1389 | 6 | c.412 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862588 | A | ACCACCT | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0115a0001c0001t0001g0190others(7): Show | 10 | 216 | 0.0463 | 6 | c.495 others(23): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862755 | C | CTCCTCT | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0115a0001c0001t0001g0190others(7): Show | 10 | 216 | 0.0463 | 6 | c.495 others(25): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126912966 | T | TCTGCCC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0083others(206): Show | 209 | 216 | 0.9676 | 6 | c.496 others(23): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126956600 | C | CGAGAGA | intron_variant | MODIFIER | HG02451.hp2 HG04204.hp1 |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0001a0006c0008t0002 | a0002c0002t0001g0050a0006c0008t0002g0098 | 2 | 216 | 0.0093 | 6 | c.567 others(21): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD7_chr8_56206789_56223809 | 56211300 | T | TGCCGCC | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02083.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0012 | 4 | 384 | 0.0104 | 6 | c.-55 others(15): Show |
CHCHD7 | ENSG00000170791.18 | transcript | ENST00000355315.8 | protein_coding | 488 | chr8 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147249404 | A | ATTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG03239.hp1 others(7): Show |
a0001a0003 | a0001c0007a0001c0009a0003c0003 | a0001c0007t0001a0001c0009t0003a0003c0003t0001others(1): Show | a0001c0007t0001g0151a0001c0007t0001g0152a0001c0009t0003g0187others(7): Show | 10 | 418 | 0.0239 | 6 | c.128 others(23): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147261401 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp1 others(51): Show |
a0003a0007a0013 | a0003c0003a0003c0012a0007c0015others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0012t0002others(2): Show | a0003c0003t0001g0013a0003c0003t0001g0163a0003c0003t0001g0182others(39): Show | 54 | 418 | 0.1292 | 6 | c.576 others(23): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147275782 | T | TAAAAAA | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0029a0001c0007t0001g0146a0001c0007t0001g0147others(2): Show | 6 | 418 | 0.0144 | 6 | c.138 others(23): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147278222 | G | GTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01258.hp1 HG01934.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0211a0001c0001t0003g0213a0001c0001t0003g0215others(11): Show | 14 | 418 | 0.0335 | 6 | c.154 others(25): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147288322 | C | CATAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG02109.hp1 others(22): Show |
a0001a0003a0016 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0045a0001c0001t0001g0197others(19): Show | 25 | 418 | 0.0598 | 6 | c.232 others(23): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147300073 | T | TACGTAA | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02129.hp1 HG02257.hp1 others(14): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003a0004c0005t0002g0060a0004c0005t0002g0061others(10): Show | 17 | 418 | 0.0407 | 6 | c.*45 others(17): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 4312 | chr1 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147300073 | T | TAGGTAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(52): Show |
a0003a0007a0013 | a0003c0003a0003c0012a0007c0015others(1): Show | a0003c0003t0002a0003c0012t0002a0007c0015t0002others(1): Show | a0003c0003t0002g0004a0003c0003t0002g0006a0003c0003t0002g0012others(40): Show | 55 | 418 | 0.1316 | 6 | c.*45 others(17): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 4312 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98867558 | A | ATGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006 | a0001c0003t0002g0048a0001c0003t0002g0049a0001c0003t0002g0050others(9): Show | 12 | 334 | 0.0359 | 6 | c.424 others(23): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 31/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98869618 | G | GCACACA | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 HG02965.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074a0002c0002t0002g0077a0002c0002t0002g0079others(5): Show | 8 | 334 | 0.0240 | 6 | c.410 others(23): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 30/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883826 | A | AATATAT | intron_variant | MODIFIER | HG02970.hp1 NA18956.hp2 NA19088.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0166a0001c0001t0001g0280a0001c0008t0001g0276 | 3 | 334 | 0.0090 | 6 | c.256 others(23): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92909939 | C | CGTGTGT | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00642.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0006a0001c0002t0001a0001c0002t0009others(2): Show | a0001c0001t0006g0248a0001c0002t0001g0233a0001c0002t0001g0234others(21): Show | 24 | 306 | 0.0784 | 6 | c.62+ others(21): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92926987 | G | GTATGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(264): Show | 271 | 306 | 0.8856 | 6 | c.295 others(21): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |