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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CKMT1B_chr15_43589027_43604406 | 43598711 | GAAAAAA | G | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01243.hp2 others(31): Show |
a0001a0004 | a0001c0002a0001c0006a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0006t0005others(2): Show | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0007others(5): Show | 34 | 348 | 0.0977 | -6 | c.101 others(23): Show |
CKMT1B | ENSG00000237289.10 | transcript | ENST00000441322.6 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
CKMT2_chr5_81228322_81271398 | 81234017 | TAATTAA | T | intron_variant | MODIFIER | HG00609.hp2 HG01123.hp2 HG01256.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0015a0001c0001t0002g0035others(10): Show | 19 | 356 | 0.0534 | -6 | c.-21 others(21): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CKMT2_chr5_81228322_81271398 | 81250940 | AACACAC | A | intron_variant | MODIFIER | HG02300.hp1 NA18943.hp2 NA18985.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0184a0001c0001t0001g0187others(1): Show | 5 | 356 | 0.0140 | -6 | c.-20 others(21): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CKMT2_chr5_81228322_81271398 | 81257141 | AGTGTGT | A | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01175.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0106a0001c0001t0001g0154a0001c0001t0001g0155others(10): Show | 14 | 356 | 0.0393 | -6 | c.755 others(21): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CLASP1_chr2_121332776_121654462 | 121339131 | CCACACA | C | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01243.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0018a0001c0001t0034a0001c0001t0081others(2): Show | a0001c0001t0018g0042a0001c0001t0034g0118a0001c0001t0034g0125others(8): Show | 11 | 214 | 0.0514 | -6 | c.*17 others(17): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 41/41 | 1724 | chr2 | TogoVar | |||||
CLASP1_chr2_121332776_121654462 | 121360601 | GAAAAAA | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(89): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0037a0001c0001t0044a0001c0002t0005others(39): Show | a0001c0001t0037g0002a0001c0001t0044g0005a0001c0002t0005g0145others(89): Show | 92 | 214 | 0.4299 | -6 | c.426 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 38/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121473884 | AAAACTC | A | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0019a0001c0002t0043 | a0001c0002t0011g0172a0001c0002t0011g0176a0001c0002t0019g0174others(2): Show | 5 | 214 | 0.0234 | -6 | c.713 others(23): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121479016 | CCACACA | C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008a0001c0002t0009others(6): Show | a0001c0002t0005g0146a0001c0002t0008g0195a0001c0002t0008g0196others(15): Show | 18 | 214 | 0.0841 | -6 | c.713 others(23): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121479029 | CACCCCA | C | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01074.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0034a0001c0001t0035others(2): Show | a0001c0001t0002g0106a0001c0001t0002g0111a0001c0001t0002g0112others(7): Show | 10 | 214 | 0.0467 | -6 | c.713 others(23): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121500372 | GAAAGAA | G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0015a0001c0002t0017others(5): Show | a0001c0002t0011g0138a0001c0002t0015g0143a0001c0002t0015g0144others(10): Show | 13 | 214 | 0.0608 | -6 | c.712 others(23): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121630381 | AACACAC | A | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(3): Show | a0001c0001t0001g0089a0001c0001t0001g0214a0001c0001t0004g0045others(9): Show | 12 | 214 | 0.0561 | -6 | c.-28 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33505263 | CAACAAA | C | intron_variant | MODIFIER | HG02165.hp2 HG03471.hp2 NA18612.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0002a0001c0001t0003a0003c0009t0003 | a0001c0001t0002g0232a0001c0001t0003g0211a0003c0009t0003g0047others(1): Show | 4 | 278 | 0.0144 | -6 | c.431 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 37/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33520820 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01361.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0081a0001c0001t0001g0101a0001c0001t0001g0126others(17): Show | 20 | 278 | 0.0719 | -6 | c.378 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 34/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33620997 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01106.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0116a0001c0001t0001g0133a0001c0001t0001g0151others(19): Show | 22 | 278 | 0.0791 | -6 | c.118 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 11/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33627170 | ATTAAGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(83): Show |
a0001a0003a0005 | a0001c0001a0001c0012a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0002g0008others(83): Show | 86 | 278 | 0.3094 | -6 | c.943 others(19): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 9/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33645929 | TACACAC | T | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG01891.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0104a0001c0001t0001g0155a0001c0001t0002g0058others(11): Show | 14 | 278 | 0.0504 | -6 | c.716 others(23): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 7/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33713012 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(74): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0012a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0002g0008others(74): Show | 77 | 278 | 0.2770 | -6 | c.195 others(23): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | ||||||
CLCA1_chr1_86463927_86505259 | 86489719 | TACACAG | T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02559.hp1 others(2): Show |
a0002a0016a0022 | a0002c0005a0016c0028a0022c0026 | a0002c0005t0001a0016c0028t0001a0022c0026t0001 | a0002c0005t0001g0016a0002c0005t0001g0257a0016c0028t0001g0364others(1): Show | 5 | 440 | 0.0114 | -6 | c.135 others(23): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCA4_chr1_86542078_86585754 | 86580213 | TCCTACA | T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(191): Show |
a0001a0007a0008others(2): Show | a0001c0001a0001c0006a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(112): Show | 194 | 334 | 0.5808 | -6 | c.263 others(15): Show |
p.Pro others(13): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 14/14 | 2676/3211 | 2634/2760 | 878/919 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CLCA4_chr1_86542078_86585754 | 86580219 | ACCTACT | A | conservative_inframe_deletion | MODERATE | HG01167.hp2 HG01169.hp2 HG01891.hp2 others(27): Show |
a0001a0004a0005 | a0001c0008a0004c0004a0004c0011others(3): Show | a0001c0008t0001a0004c0004t0001a0004c0011t0001others(3): Show | a0001c0008t0001g0101a0001c0008t0001g0116a0001c0008t0001g0174others(18): Show | 30 | 334 | 0.0898 | -6 | c.265 others(15): Show |
p.Thr others(13): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 14/14 | 2698/3211 | 2656/2760 | 886/919 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CLCA4_chr1_86542078_86585754 | 86585717 | GTCTCTC | G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0035a0003c0003t0001g0155a0003c0003t0001g0158others(1): Show | 5 | 334 | 0.0150 | -6 | c.*53 others(17): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 4964 | chr1 | TogoVar | ||||||
CLCA4_chr1_86542078_86585754 | 86585734 | TCTCTCA | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(41): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001a0003c0003t0001g0022a0003c0003t0001g0036others(15): Show | 44 | 334 | 0.1317 | -6 | c.*53 others(17): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 4981 | chr1 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108939257 | TATATAA | T | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02572.hp2 others(9): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0027a0002c0003t0039 | a0002c0003t0003g0016a0002c0003t0003g0140a0002c0003t0003g0201others(7): Show | 12 | 394 | 0.0305 | -6 | c.104 others(23): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 10/12 | chr1 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108966767 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00738.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0034a0001c0001t0001g0110others(13): Show | 19 | 394 | 0.0482 | -6 | c.-35 others(17): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 3284 | chr1 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108966807 | CACACAT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0003 | a0001c0001t0001g0250a0001c0001t0001g0292a0001c0002t0001g0276others(3): Show | 6 | 394 | 0.0152 | -6 | c.-36 others(17): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 3324 | chr1 | TogoVar | ||||||
CLCF1_chr11_67359168_67378598 | 67369358 | AGAGTAG | A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01070.hp2 others(53): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(15): Show | 56 | 308 | 0.1818 | -6 | c.17- others(21): Show |
CLCF1 | ENSG00000175505.11 | transcript | ENST00000312438.8 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
CLCF1_chr11_67359168_67378598 | 67372616 | CGGCGGG | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0027others(10): Show | 64 | 308 | 0.2078 | -6 | c.16+ others(19): Show |
CLCF1 | ENSG00000175505.11 | transcript | ENST00000312438.8 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
CLCN1_chr7_143311111_143357083 | 143337807 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(61): Show |
a0001a0003a0010 | a0001c0001a0001c0004a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(59): Show | 64 | 414 | 0.1546 | -6 | c.140 others(25): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN1_chr7_143311111_143357083 | 143347620 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(68): Show |
a0001a0002a0008others(2): Show | a0001c0006a0002c0002a0002c0005others(4): Show | a0001c0006t0001a0002c0002t0001a0002c0005t0001others(4): Show | a0001c0006t0001g0063a0002c0002t0001g0001a0002c0002t0001g0005others(57): Show | 71 | 414 | 0.1715 | -6 | c.240 others(23): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169658224 | ATATAAT | A | intron_variant | MODIFIER | HG02976.hp2 NA18522.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0034 | a0001c0001t0025g0002a0001c0001t0034g0241 | 3 | 288 | 0.0104 | -6 | c.161 others(25): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169663311 | TTTTTTG | T | intron_variant | MODIFIER | HG03579.hp2 HG03831.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0033a0001c0001t0045 | a0001c0001t0024g0218a0001c0001t0033g0279a0001c0001t0045g0280 | 3 | 288 | 0.0104 | -6 | c.161 others(25): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169663314 | TTTGTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(33): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(193): Show | 200 | 288 | 0.6944 | -6 | c.161 others(25): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10153138 | TACACAC | T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002 | a0001c0001t0002g0021a0001c0001t0002g0043a0001c0001t0002g0044others(4): Show | 7 | 264 | 0.0265 | -6 | c.-42 others(17): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3836 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10161124 | GCTCTCT | G | intron_variant | MODIFIER | HG02723.hp1 NA18970.hp1 NA18981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0030 | a0001c0001t0001g0253a0001c0001t0001g0254a0001c0001t0002g0146others(1): Show | 4 | 264 | 0.0152 | -6 | c.-12 others(23): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10175970 | CTGTGTG | C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0047 | 1 | 264 | 0.0038 | -6 | c.-11 others(23): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10180767 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(13): Show | 16 | 264 | 0.0606 | -6 | c.-11 others(23): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10191692 | ATTTTTT | A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0079 | 1 | 264 | 0.0038 | -6 | c.245 others(23): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10202638 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02735.hp1 HG06807.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0199a0001c0001t0001g0215others(7): Show | 10 | 264 | 0.0379 | -6 | c.556 others(23): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10205485 | AAAAAAG | A | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(3): Show | a0001c0001t0002g0130a0001c0001t0004g0051a0001c0001t0017g0057others(4): Show | 7 | 264 | 0.0265 | -6 | c.556 others(21): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10205516 | ATGTTCT | A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 | 1 | 264 | 0.0038 | -6 | c.556 others(21): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10224293 | CGTGTGT | C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0013a0001c0001t0032others(1): Show | a0001c0001t0009g0061a0001c0001t0013g0077a0001c0001t0032g0067others(1): Show | 4 | 264 | 0.0152 | -6 | c.219 others(25): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10239513 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01167.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0022others(5): Show | a0001c0001t0002g0010a0001c0001t0002g0066a0001c0001t0002g0076others(24): Show | 27 | 264 | 0.1023 | -6 | c.*59 others(17): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 1854 | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 49972112 | GGTGTGT | G | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01243.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0048a0001c0001t0001g0050others(9): Show | 12 | 175 | 0.0686 | -6 | c.16+ others(23): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50002639 | CTCTCTG | C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 175 | 0.0057 | -6 | c.17- others(23): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50002679 | CTCTGTG | C | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(9): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0002t0009a0001c0002t0024others(1): Show | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(9): Show | 12 | 175 | 0.0686 | -6 | c.17- others(23): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50002681 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0142a0001c0002t0002g0013 | 2 | 175 | 0.0114 | -6 | c.17- others(23): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50007397 | TTCTCTC | T | intron_variant | MODIFIER | HG01258.hp1 HG01928.hp1 HG01934.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(13): Show | 16 | 175 | 0.0914 | -6 | c.17- others(23): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50007469 | CACACAG | C | intron_variant | MODIFIER | HG01255.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0020 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | 175 | 0.0114 | -6 | c.17- others(23): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50066733 | AGGTTGG | A | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 175 | 0.0057 | -6 | c.164 others(23): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50077594 | AAGAGAG | A | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0004a0001c0003t0003 | a0001c0002t0002g0011a0001c0002t0002g0128a0001c0002t0004g0003others(3): Show | 6 | 175 | 0.0343 | -6 | c.603 others(23): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar |