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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(11): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(26): Show | 73 | 432 | 0.1690 | 0 | c.39C others(2): Show |
p.Cys others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 106/4055 | 39/1224 | 13/407 | chr1 | TogoVar | ||
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 | ||||||
ACAD11_chr3_132553141_132664809 | 132618633 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0293a0001c0001t0001g0294others(13): Show | 19 | 316 | 0.0601 | 0 | c.141 others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 11/19 | chr3 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134859306 | C | T | stop_gained | HIGH | NA18962.hp2 NA19070.hp1 NA19084.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0006a0003c0003t0001g0274 | 3 | 382 | 0.0079 | 0 | c.148 others(3): Show |
p.Arg others(3): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/10 | 215/1252 | 148/1011 | 50/336 | chr2 | 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 | ||
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 | ||||||
ANKRD27_chr19_32592006_32680180 | 32643571 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18950.hp1 NA19070.hp1 |
a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0106a0002c0012t0001g0107 | 2 | 348 | 0.0058 | 0 | c.585 others(5): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 6/28 | chr19 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97113741 | T | A | start_lost | HIGH | HG00597.hp2 HG02071.hp1 HG02083.hp2 others(13): Show |
a0008a0013a0023others(1): Show | a0008c0006a0013c0013a0013c0025others(2): Show | a0008c0006t0003a0013c0013t0003a0013c0025t0003others(2): Show | a0008c0006t0003g0184a0008c0006t0003g0190a0008c0006t0003g0191others(13): Show | 16 | 212 | 0.0755 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 1/76 | 589/6534 | 2/5748 | 1/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97224796 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show |
a0000a0001a0002others(32): Show | a0000c0016a0001c0001a0001c0036others(40): Show | a0000c0016t0006a0001c0001t0001a0001c0001t0002others(46): Show | a0000c0016t0006g0018a0000c0016t0006g0076a0000c0016t0006g0108others(144): Show | 147 | 212 | 0.6934 | 1 | c.387 others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 66/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97264169 | TAGCATTG others(84): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0046a0002c0002others(20): Show | a0001c0001t0002a0001c0046t0002a0002c0002t0002others(22): Show | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022others(64): Show | 67 | 212 | 0.3160 | -91 | c.*7- others(100): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 76/76 | 14097 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
API5_chr11_43306996_43349529 | 43335212 | C | CCCTCACC others(96): Show |
frameshift_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 384 | 0.0026 | 103 | c.127 others(115): Show |
p.Thr others(5): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 12/14 | 1449/3726 | 1317/1575 | 439/524 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0019others(42): Show | 114 | 404 | 0.2822 | 0 | c.-98 others(6): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(163): Show | 173 | 362 | 0.4779 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | 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 | ||
ASB16_chr17_44165704_44184084 | 44178274 | C | T | stop_gained | HIGH | NA19070.hp2 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0006 | 1 | 362 | 0.0028 | 0 | c.124 others(4): Show |
p.Arg others(4): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 5/5 | 1332/2142 | 1246/1362 | 416/453 | chr17 | TogoVar | ||
ATP6V0D2_chr8_86093910_86159225 | 86151541 | G | T | splice_donor_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 360 | 0.0028 | 0 | c.891 others(5): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 7/7 | chr8 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show |
a0002a0004a0005others(4): Show | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280others(144): Show | 152 | 440 | 0.3455 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32394744 | C | A | stop_gained others(1): Show |
HIGH | HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0001a0004c0003t0003g0015a0004c0003t0003g0042others(10): Show | 45 | 453 | 0.0993 | 0 | c.136 others(4): Show |
p.Glu others(4): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1418/1564 | 1360/1449 | 454/482 | chr6 | TogoVar | ||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | ||||||
C2orf50_chr2_11128128_11156317 | 11133332 | A | AC | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(32): Show | a0001c0001t0003g0004a0001c0001t0003g0010a0001c0001t0003g0039others(59): Show | 77 | 380 | 0.2026 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/3 | 208/7902 | 1/489 | 1/162 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
C3orf49_chr3_63814299_63853636 | 63831135 | C | CACACT | frameshift_variant | HIGH | HG00621.hp2 HG00673.hp2 HG02027.hp2 others(17): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004a0003c0003t0001g0027a0003c0003t0001g0052others(14): Show | 20 | 388 | 0.0516 | 5 | c.597 others(12): Show |
p.Phe others(5): Show |
C3orf49 | ENSG00000163632.15 | transcript | ENST00000295896.13 | protein_coding | 4/7 | 775/1355 | 602/879 | 201/292 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(7): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00609.hp2 HG00738.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0032a0001c0001t0001g0143a0001c0001t0001g0190others(21): Show | 24 | 200 | 0.1200 | 14 | c.121 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CALHM6_chr6_116456375_116468771 | 116462154 | G | A | stop_gained | HIGH | NA18945.hp2 NA18975.hp2 NA19005.hp2 others(1): Show |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0001 | 4 | 440 | 0.0091 | 0 | c.225 others(3): Show |
p.Trp others(3): Show |
CALHM6 | ENSG00000188820.13 | transcript | ENST00000368605.3 | protein_coding | 2/3 | 338/1127 | 225/948 | 75/315 | chr6 | TogoVar | ||
CARD8_chr19_48203086_48260912 | 48231760 | C | CTT | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show |
a0003 | a0003c0006a0003c0009a0003c0019 | a0003c0006t0003a0003c0006t0006a0003c0006t0016others(3): Show | a0003c0006t0003g0041a0003c0006t0003g0045a0003c0006t0003g0162others(16): Show | 19 | 362 | 0.0525 | 2 | c.440 others(9): Show |
p.Val others(5): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 8/14 | 813/5610 | 441/1614 | 147/537 | chr19 | 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 | |||||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(67): Show | 187 | 455 | 0.4110 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | ||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | 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 | ||
CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20284): Show |
frameshift_variant others(1): Show |
HIGH | NA19070.hp2 | a0024 | a0024c0151 | a0024c0151t0001 | a0024c0151t0001g0001 | 1 | 416 | 0.0024 | 20291 | c.193 others(20300): Show |
p.Pro others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show |
a0001a0002a0004others(26): Show | a0001c0019a0001c0020a0001c0054others(112): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(112): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(140): Show | 182 | 416 | 0.4375 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEP152_chr15_48732938_48816069 | 48741600 | C | A | splice_donor_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 342 | 0.0029 | 0 | c.409 others(6): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 26/26 | chr15 | TogoVar | ||||||
CFAP90_chr5_7825378_7856133 | 7835432 | G | A | stop_gained | HIGH | HG02132.hp2 NA18939.hp2 NA18946.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003a0003c0003t0001g0083a0003c0003t0001g0091 | 16 | 420 | 0.0381 | 0 | c.214 others(3): Show |
p.Arg others(3): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 2/3 | 326/2028 | 214/444 | 72/147 | chr5 | 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 | |||||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
a0001a0004a0006others(18): Show | a0001c0001a0001c0014a0001c0040others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(98): Show | 104 | 292 | 0.3562 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||||
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 | ||
CT47A4_chrX_120962886_120976208 | 120970417 | GC | G | frameshift_variant | HIGH | NA19070.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0025 | 1 | 164 | 0.0061 | -1 | c.532 others(4): Show |
p.Ala others(5): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 791/1298 | 532/867 | 178/288 | chrX | TogoVar | ||
CT47A4_chrX_120962886_120976208 | 120970770 | G | GC | frameshift_variant | HIGH | NA19070.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0025 | 1 | 164 | 0.0061 | 1 | c.179 others(4): Show |
p.Leu others(4): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 438/1298 | 179/867 | 60/288 | chrX | 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 | ||||||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002a0013 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0063a0002c0002t0002g0002a0002c0002t0002g0003others(101): Show | 114 | 374 | 0.3048 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CYP4A22_chr1_47132441_47154727 | 47144551 | TG | T | frameshift_variant | HIGH | HG00280.hp1 HG00408.hp2 HG02080.hp1 others(12): Show |
a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0008a0006c0007t0004g0010 | 15 | 440 | 0.0341 | -1 | c.901 others(4): Show |
p.Glu others(5): Show |
CYP4A22 | ENSG00000162365.13 | transcript | ENST00000371891.8 | protein_coding | 8/12 | 946/2535 | 901/1560 | 301/519 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
DAZ4_chrY_24828919_24912040 | 24861624 | GTGAAGTA others(4773): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(25): Show | 28 | 41 | 0.6829 | -4780 | c.121 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24868531 | CTCTAATT others(7126): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0004a0005c0005others(5): Show | a0002c0002t0001a0003c0004t0001a0005c0005t0001others(5): Show | a0002c0002t0001g0009a0002c0002t0001g0012a0002c0002t0001g0025others(19): Show | 22 | 41 | 0.5366 | -7133 | c.142 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | ||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show |
a0000a0002 | a0000c0002a0000c0004a0002c0003others(2): Show | a0000c0002t0001a0000c0004t0001a0002c0003t0001others(2): Show | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0003others(16): Show | 233 | 460 | 0.5065 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
DHDH_chr19_48928699_48949969 | 48942517 | C | T | stop_gained | HIGH | HG00621.hp2 HG00738.hp2 HG01261.hp1 others(26): Show |
a0004a0011a0015others(1): Show | a0004c0004a0011c0020a0015c0024others(1): Show | a0004c0004t0001a0011c0020t0001a0015c0024t0001others(1): Show | a0004c0004t0001g0008a0004c0004t0001g0011a0004c0004t0001g0020others(13): Show | 29 | 436 | 0.0665 | 0 | c.697 others(3): Show |
p.Gln others(4): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 5/7 | 720/1064 | 697/1005 | 233/334 | chr19 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0002a0016a0049others(3): Show | a0002c0002a0002c0095a0002c0099others(5): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(5): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(21): Show | 27 | 282 | 0.0957 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |