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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB5_chr7_20610667_20762008 | 20626612 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(68): Show |
a0002a0003a0005others(11): Show | a0002c0003a0003c0002a0003c0010others(14): Show | a0002c0003t0001a0003c0002t0001a0003c0002t0002others(20): Show | a0002c0003t0001g0349a0003c0002t0001g0117a0003c0002t0001g0137others(68): Show | 71 | 360 | 0.1972 | 0 | c.108 others(5): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | chr7 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | ||
AKR1C8_chr10_5148920_5190150 | 5159943 | GTGATTGA others(229): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005a0003c0004t0002g0008a0003c0004t0002g0009others(27): Show | 43 | 408 | 0.1054 | -236 | c.457 others(11): Show |
p.Ala others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/9 | 564/1247 | 457/981 | 153/326 | chr10 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 373 | 390 | 0.9564 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(122): Show | 142 | 372 | 0.3817 | 0 | c.143 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 13/14 | 1621/2575 | 1439/1587 | 480/528 | chr5 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89806360 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01255.hp2 HG02145.hp2 others(4): Show |
a0008 | a0008c0015a0008c0021a0008c0022others(2): Show | a0008c0015t0001a0008c0015t0002a0008c0021t0001others(3): Show | a0008c0015t0001g0039a0008c0015t0001g0065a0008c0015t0002g0087others(4): Show | 7 | 404 | 0.0173 | 1 | c.223 others(4): Show |
p.Arg others(4): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 2/21 | 527/3662 | 223/2904 | 75/967 | chr15 | TogoVar | ||
APOL4_chr22_36184128_36206809 | 36191797 | ACT | A | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(13): Show | a0002c0002t0002g0007a0002c0002t0002g0009a0002c0002t0002g0011others(74): Show | 129 | 434 | 0.2972 | -2 | c.323 others(9): Show |
p.Glu others(5): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 4/4 | 399/3069 | 323/1047 | 108/348 | chr22 | TogoVar | ||
APOL4_chr22_36184128_36206809 | 36201698 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0028a0002c0002t0002others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0031others(30): Show | 58 | 434 | 0.1336 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
ARMS2_chr10_122449653_122462352 | 122454839 | C | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003a0003c0003t0001g0016a0003c0003t0001g0018others(4): Show | 61 | 424 | 0.1439 | 0 | c.112 others(3): Show |
p.Arg others(3): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 1/2 | 187/818 | 112/324 | 38/107 | chr10 | TogoVar | ||
ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | ||
ASMT_chrX_1610059_1648081 | 1623195 | GC | G | frameshift_variant | HIGH | NA18988.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0060 | 1 | 223 | 0.0045 | -1 | c.130 others(4): Show |
p.Leu others(4): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2/9 | 271/1330 | 130/1122 | 44/373 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 546693 | CCAAATTT others(4): Show |
C | frameshift_variant | HIGH | NA18988.hp2 | a0025 | a0025c0029 | a0025c0029t0003 | a0025c0029t0003g0370 | 1 | 394 | 0.0025 | -11 | c.688 others(18): Show |
p.Gln others(5): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 7/20 | 1126/5493 | 688/2997 | 230/998 | chr12 | TogoVar | ||
BRIX1_chr5_34910711_34930996 | 34925207 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(26): Show | 80 | 440 | 0.1818 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BTNL2_chr6_32388339_32412181 | 32403192 | TG | T | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show |
a0003a0006a0009others(1): Show | a0003c0004a0003c0008a0003c0021others(3): Show | a0003c0004t0002a0003c0008t0001a0003c0021t0002others(3): Show | a0003c0004t0002g0044a0003c0004t0002g0070a0003c0004t0002g0071others(35): Show | 69 | 453 | 0.1523 | -1 | c.451 others(4): Show |
p.His others(5): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 3/8 | 509/1564 | 451/1449 | 151/482 | chr6 | TogoVar | ||
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44793589 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show |
a0000 | a0000c0002a0000c0004a0000c0007others(1): Show | a0000c0002t0001a0000c0004t0001a0000c0007t0001others(1): Show | a0000c0002t0001g0012a0000c0002t0001g0013a0000c0002t0001g0032others(41): Show | 47 | 344 | 0.1366 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 8/11 | 1298/1576 | 1256/1425 | 419/474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CBLL2_chrX_22267913_22279461 | 22273977 | TA | T | frameshift_variant | HIGH | NA18988.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0000 | 1 | 346 | 0.0029 | -1 | c.989 others(4): Show |
p.Lys others(5): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1/1 | 1068/1549 | 989/1278 | 330/425 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CBLL2_chrX_22267913_22279461 | 22274128 | TA | T | frameshift_variant | HIGH | NA18988.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0000 | 1 | 346 | 0.0029 | -1 | c.113 others(5): Show |
p.Thr others(5): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1/1 | 1217/1549 | 1138/1278 | 380/425 | chrX | TogoVar | ||
CCDC138_chr2_108781771_108881578 | 108788018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(75): Show | 79 | 220 | 0.3591 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CD40LG_chrX_136643158_136665390 | 136654402 | GA | G | frameshift_variant | HIGH | NA18988.hp1 | a0004 | a0004c0008 | a0004c0008t0018 | a0004c0008t0018g0051 | 1 | 287 | 0.0035 | -1 | c.321 others(4): Show |
p.Glu others(5): Show |
CD40LG | ENSG00000102245.9 | transcript | ENST00000370629.7 | protein_coding | 3/5 | 412/1852 | 321/786 | 107/261 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0004others(5): Show | a0002c0002t0002a0002c0003t0001a0002c0003t0002others(6): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0018others(115): Show | 211 | 406 | 0.5197 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | ||
CEP295NL_chr17_78885579_78908201 | 78891576 | G | A | stop_gained | HIGH | NA18957.hp2 NA18971.hp2 NA18980.hp1 others(4): Show |
a0007 | a0007c0007a0007c0024 | a0007c0007t0002a0007c0024t0002 | a0007c0007t0002g0016a0007c0007t0002g0049a0007c0024t0002g0209 | 7 | 430 | 0.0163 | 0 | c.928 others(3): Show |
p.Gln others(4): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 3/3 | 1094/2091 | 928/1866 | 310/621 | chr17 | TogoVar | ||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | ||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(17): Show | a0001c0001t0001g0035a0001c0001t0001g0114a0001c0001t0001g0155others(80): Show | 100 | 372 | 0.2688 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0036a0001c0001t0001g0114a0001c0002t0001g0322others(80): Show | 97 | 364 | 0.2665 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CPNE1_chr20_35621044_35669900 | 35627312 | C | CA | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0079others(41): Show | 46 | 272 | 0.1691 | 1 | c.120 others(5): Show |
p.Ala others(5): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 14/16 | 1344/1952 | 1203/1614 | 401/537 | chr20 | TogoVar | ||
CPT1B_chr22_50563861_50583427 | 50574491 | A | C | splice_donor_variant others(1): Show |
HIGH | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 414 | 0.0024 | 0 | c.885 others(5): Show |
CPT1B | ENSG00000205560.13 | transcript | ENST00000312108.12 | protein_coding | 8/19 | chr22 | TogoVar | ||||||
CPT1B_chr22_50563861_50583427 | 50574492 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 414 | 0.0024 | 0 | c.885 others(5): Show |
CPT1B | ENSG00000205560.13 | transcript | ENST00000312108.12 | protein_coding | 8/19 | chr22 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207544734 | TTGCTACA others(18549): Show |
T | exon_loss_variant | HIGH | HG00735.hp1 HG02004.hp1 NA18974.hp1 others(1): Show |
a0003a0008a0048 | a0003c0003a0008c0017a0008c0036others(1): Show | a0003c0003t0001a0008c0017t0001a0008c0036t0001others(1): Show | a0003c0003t0001g0267a0008c0017t0001g0043a0008c0036t0001g0145others(1): Show | 4 | 360 | 0.0111 | -18556 | c.234 others(9): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 15/47 | 2451/9937 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CRLF2_chrX_1185490_1217649 | 1212558 | G | GC | frameshift_variant | HIGH | NA18988.hp1 | a0020 | a0020c0035 | a0020c0035t0001 | a0020c0035t0001g0135 | 1 | 167 | 0.0060 | 1 | c.76d others(3): Show |
p.Ala others(4): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/8 | 91/1538 | 76/1116 | 26/371 | chrX | TogoVar | ||
CSF1_chr1_109905849_109935992 | 109923714 | A | AC | frameshift_variant | HIGH | HG00673.hp1 HG01106.hp1 HG01123.hp1 others(27): Show |
a0004a0005a0008others(2): Show | a0004c0007a0004c0010a0004c0013others(6): Show | a0004c0007t0001a0004c0007t0002a0004c0007t0004others(12): Show | a0004c0007t0001g0015a0004c0007t0002g0002a0004c0007t0002g0005others(25): Show | 30 | 434 | 0.0691 | 1 | c.109 others(5): Show |
p.Ala others(5): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 6/9 | 1271/3994 | 1096/1665 | 366/554 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0049others(237): Show | 243 | 386 | 0.6295 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | ||
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0103others(37): Show | 69 | 400 | 0.1725 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78272831 | G | GA | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.915 others(8): Show |
p.Leu others(5): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 1336/2700 | 915/1014 | 305/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78272888 | TG | T | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | -1 | c.858 others(4): Show |
p.Asn others(5): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 1279/2700 | 858/1014 | 286/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78272973 | A | AT | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.773 others(4): Show |
p.His others(5): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 1194/2700 | 773/1014 | 258/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273121 | T | TA | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.625 others(4): Show |
p.Tyr others(5): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 1046/2700 | 625/1014 | 209/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273240 | A | AT | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.506 others(4): Show |
p.Asn others(5): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 927/2700 | 506/1014 | 169/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273260 | G | GT | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.486 others(4): Show |
p.Pro others(5): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 907/2700 | 486/1014 | 162/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273374 | T | TG | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.372 others(8): Show |
p.Ile others(5): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 793/2700 | 372/1014 | 124/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273462 | C | CA | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.284 others(4): Show |
p.Leu others(4): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 705/2700 | 284/1014 | 95/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273516 | A | AG | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.230 others(4): Show |
p.Leu others(4): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 651/2700 | 230/1014 | 77/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273549 | T | TA | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.197 others(8): Show |
p.Val others(4): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 618/2700 | 197/1014 | 66/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273661 | A | AT | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.85_ others(6): Show |
p.Leu others(4): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 506/2700 | 85/1014 | 29/337 | chrX | TogoVar | ||
CYSLTR1_chrX_78266468_78332611 | 78273665 | T | TG | frameshift_variant | HIGH | NA18988.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0123 | 1 | 240 | 0.0042 | 1 | c.81d others(3): Show |
p.Thr others(4): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 3/3 | 502/2700 | 81/1014 | 27/337 | chrX | TogoVar |