view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0013a0014others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(55): Show |
150 | 398 | 0.3769 | 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 | |||
ADAM33_chr20_3662975_3687010 | 3668985 | ATCTGGAC others(1): Show |
A | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show |
a0003a0005a0015others(3): Show | a0003c0003a0003c0039a0003c0042others(9): Show | a0003c0003t0007a0003c0003t0008a0003c0003t0032others(14): Show | a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 others(36): Show |
46 | 460 | 0.1000 | -8 | c.241 others(17): Show |
p.Gln others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 22/22 | 2425/3436 | 2412/2442 | 804/813 | chr20 | TogoVar | |||
AKNAD1_chr1_108810901_108862094 | 108825266 | AAGATGAT others(4064): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0025 | a0004c0004a0004c0008a0004c0036others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0004t0001g0020 a0004c0004t0001g0031 a0004c0004t0001g0034 others(23): Show |
32 | 396 | 0.0808 | -4071 | c.183 others(19): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/16 | chr1 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show |
372 | 388 | 0.9588 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ANKRD30A_chr10_37120598_37237567 | 37177714 | GCGCATCA others(11794): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18983.hp2 | a0031 | a0031c0018 | a0031c0018t0001 | a0031c0018t0001g0095 | 1 | 198 | 0.0051 | -11801 | c.242 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97113741 | T | A | start_lost | HIGH | HG00597.hp2 HG02071.hp1 HG02083.hp2 others(13): Show |
a0004 | a0004c0004a0004c0009a0004c0017 | a0004c0004t0002a0004c0009t0002a0004c0017t0002 | a0004c0004t0002g0005 a0004c0004t0002g0180 a0004c0004t0002g0186 others(12): Show |
16 | 210 | 0.0762 | 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(143): Show |
a0001a0003a0004others(21): Show | a0001c0001a0001c0029a0001c0032others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0029t0001others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(139): Show |
146 | 210 | 0.6952 | 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 |
a0001a0003a0004others(11): Show | a0001c0001a0001c0034a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0034t0001others(18): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 others(62): Show |
67 | 210 | 0.3190 | -91 | c.*7- others(100): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 76/76 | 14097 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0010a0004c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(55): Show |
64 | 396 | 0.1616 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARL9_chr4_56500791_56529453 | 56505976 | TAAAC | T | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0004a0003c0007t0001 | a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0015 others(39): Show |
61 | 414 | 0.1473 | -4 | c.118 others(11): Show |
p.Gln others(4): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 190/1447 | 118/798 | 40/265 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show |
113 | 402 | 0.2811 | 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(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show |
173 | 352 | 0.4915 | -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(343): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show |
346 | 412 | 0.8398 | 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 | |||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show |
a0002 | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show |
151 | 438 | 0.3447 | 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 | |||
BTN3A2_chr6_26360198_26383312 | 26368051 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 others(6): Show |
35 | 380 | 0.0921 | 0 | c.-6+ others(4): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32403192 | TG | T | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show |
a0003a0006 | a0003c0004a0003c0008a0003c0012others(3): Show | a0003c0004t0002a0003c0008t0001a0003c0012t0002others(3): Show | a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 others(35): Show |
69 | 452 | 0.1527 | -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 | |||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show |
405 | 412 | 0.9830 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | |||||||
C16orf89_chr16_5039122_5070956 | 5060404 | T | A | stop_gained | HIGH | NA18983.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0061 | 1 | 430 | 0.0023 | 0 | c.391 others(3): Show |
p.Lys others(4): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 3/8 | 439/1360 | 391/1086 | 131/361 | chr16 | TogoVar | |||
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(153): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show |
156 | 370 | 0.4216 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(5): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00741.hp1 HG01074.hp1 HG01496.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 others(7): Show |
10 | 94 | 0.1064 | 12 | c.121 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44793589 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show |
a0002a0004a0009 | a0002c0002a0002c0007a0004c0004others(1): Show | a0002c0002t0001a0002c0007t0001a0004c0004t0001others(1): Show | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 others(41): Show |
47 | 342 | 0.1374 | 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 | ||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show |
260 | 360 | 0.7222 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
CCDC7_chr10_32441140_32887864 | 32518506 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show |
a0001a0019 | a0001c0002a0019c0017 | a0001c0002t0001a0019c0017t0001 | a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 others(44): Show |
47 | 366 | 0.1284 | 0 | c.993 others(5): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 12/43 | chr10 | TogoVar | |||||||
CCHCR1_chr6_31137439_31162802 | 31157480 | C | A | stop_gained | HIGH | HG00423.hp1 HG00733.hp1 HG00741.hp1 others(20): Show |
a0001 | a0001c0013a0001c0016a0001c0018others(4): Show | a0001c0013t0003a0001c0013t0007a0001c0016t0003others(5): Show | a0001c0013t0003g0017 a0001c0013t0003g0107 a0001c0013t0003g0110 others(10): Show |
23 | 454 | 0.0507 | 0 | c.121 others(3): Show |
p.Glu others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 1/18 | 323/2971 | 121/2616 | 41/871 | chr6 | TogoVar | |||
CCNL2_chr1_1380711_1404335 | 1398672 | CTAGAG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0042 others(34): Show |
52 | 368 | 0.1413 | -5 | c.289 others(16): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CD40_chr20_46113314_46134858 | 46128304 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show |
118 | 339 | 0.3481 | 2 | c.647 others(13): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG01243.hp1 HG04115.hp2 HG04228.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(3): Show |
8 | 409 | 0.0196 | -32 | c.194 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071535 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0020 | a0001c0001t0001a0001c0002t0001a0008c0020t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(11): Show |
42 | 414 | 0.1014 | -32 | c.204 others(41): 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 | ||
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 |
a0001a0009a0014others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show |
175 | 482 | 0.3631 | 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 | |||
CHRFAM7A_chr15_30355566_30398540 | 30373077 | TCA | T | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(50): Show |
a0001 | a0001c0001a0001c0007a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(49): Show |
53 | 132 | 0.4015 | -2 | c.227 others(9): Show |
p.Leu others(4): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 6/10 | 673/3411 | 227/1239 | 76/412 | chr15 | TogoVar | |||
CLEC17A_chr19_14578084_14617035 | 14594551 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG01993.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 |
3 | 362 | 0.0083 | 0 | c.310 others(5): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 5/13 | chr19 | TogoVar | |||||||
CLHC1_chr2_55167547_55237293 | 55206377 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | NA18947.hp2 NA18983.hp1 NA19074.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0213 |
3 | 402 | 0.0075 | 1 | c.900 others(6): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(24436): Show |
frameshift_variant others(1): Show |
HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 393 | 0.0025 | 24443 | c.236 others(24450): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show |
354 | 422 | 0.8389 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0016a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show |
275 | 343 | 0.8017 | -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(239): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show |
242 | 384 | 0.6302 | 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(408): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show |
411 | 446 | 0.9215 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | |||||||
CYP4A11_chr1_46924188_46946476 | 46938134 | G | A | stop_gained | HIGH | NA18983.hp1 | a0006 | a0006c0020 | a0006c0020t0014 | a0006c0020t0014g0036 | 1 | 426 | 0.0023 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
CYP4A11 | ENSG00000187048.14 | transcript | ENST00000310638.9 | protein_coding | 2/12 | 242/2530 | 199/1560 | 67/519 | chr1 | TogoVar | |||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 others(36): Show |
68 | 398 | 0.1709 | -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 | |||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0006t0001others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show |
232 | 458 | 0.5066 | -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 | ||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(21): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00621.hp1 HG02155.hp1 HG02922.hp1 others(8): Show |
a0001a0010 | a0001c0001a0001c0008a0010c0021 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0131 a0001c0001t0003g0066 a0001c0001t0003g0087 others(8): Show |
11 | 25 | 0.4400 | 28 | c.623 others(39): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0017others(2): Show | a0002c0002a0002c0005a0002c0024others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0024t0001others(7): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show |
132 | 433 | 0.3049 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
DHDH_chr19_48928699_48949969 | 48944491 | GGA | G | frameshift_variant | HIGH | HG00140.hp1 HG00642.hp1 HG01106.hp2 others(17): Show |
a0002a0006 | a0002c0005a0006c0019 | a0002c0005t0001a0006c0019t0001 | a0002c0005t0001g0002 a0002c0005t0001g0009 a0002c0005t0001g0015 others(9): Show |
20 | 434 | 0.0461 | -2 | c.881 others(9): Show |
p.Glu others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 6/7 | 904/1064 | 881/1005 | 294/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show |
111 | 384 | 0.2891 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23967497 | GGGAGAAG others(6775): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(11): Show |
16 | 155 | 0.1032 | -6782 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show |
56 | 139 | 0.4029 | 1 | c.733 others(6): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(12170): Show |
T | exon_loss_variant | HIGH | NA18956.hp2 NA18981.hp1 NA18983.hp2 |
a0002a0044 | a0002c0008a0044c0034 | a0002c0008t0002a0044c0034t0002 | a0002c0008t0002g0143 a0002c0008t0002g0237 a0044c0034t0002g0048 |
3 | 208 | 0.0144 | -12177 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122613317 | CGTGGGAG others(4053): Show |
C | exon_loss_variant | HIGH | NA18955.hp1 NA18957.hp2 NA18964.hp2 others(2): Show |
a0012 | a0012c0014a0012c0047 | a0012c0014t0002a0012c0047t0001 | a0012c0014t0002g0189 a0012c0014t0002g0190 a0012c0014t0002g0191 others(2): Show |
5 | 280 | 0.0179 | -4060 | c.450 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 38/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0174 others(104): Show |
112 | 394 | 0.2843 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show |
163 | 402 | 0.4055 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar |