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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD16B_chr20_63856498_63867988 | 63862607 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show |
a0003a0005 | a0003c0003a0003c0016a0005c0007 | a0003c0003t0001a0003c0016t0001a0005c0007t0001 | a0003c0003t0001g0000 a0003c0016t0001g0000 a0005c0007t0001g0000 |
18 | 396 | 0.0455 | 1 | c.107 others(5): Show |
p.Val others(5): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1115/1491 | 1072/1410 | 358/469 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134537643 | C | CA | frameshift_variant | HIGH | HG01261.hp2 HG01978.hp1 HG02055.hp2 others(14): Show |
a0004a0006 | a0004c0005a0004c0006a0004c0015others(1): Show | a0004c0005t0001a0004c0006t0001a0004c0006t0002others(4): Show | a0004c0005t0001g0004 a0004c0005t0001g0021 a0004c0005t0001g0023 others(12): Show |
17 | 446 | 0.0381 | 1 | c.730 others(4): Show |
p.Thr others(5): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 7/10 | 1076/1619 | 731/951 | 244/316 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ANKRD35_chr1_145861564_145890866 | 145872539 | G | A | stop_gained | HIGH | NA18972.hp1 | a0020 | a0020c0025 | a0020c0025t0001 | a0020c0025t0001g0199 | 1 | 398 | 0.0025 | 0 | c.223 others(4): Show |
p.Gln others(4): Show |
ANKRD35 | ENSG00000198483.13 | transcript | ENST00000355594.9 | protein_coding | 10/14 | 2338/3359 | 2230/3006 | 744/1001 | chr1 | TogoVar | |||
ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0007a0014others(3): Show | a0002c0004a0002c0005a0002c0007others(13): Show | a0002c0004t0001a0002c0005t0001a0002c0007t0001others(13): Show | a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 others(95): Show |
101 | 296 | 0.3412 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97188507 | GGTGAGAG others(1883): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show |
a0002a0007a0013others(4): Show | a0002c0002a0007c0007a0007c0027others(5): Show | a0002c0002t0001a0007c0007t0001a0007c0007t0006others(6): Show | a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0133 others(44): Show |
47 | 209 | 0.2249 | -1890 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | 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 | ||||||
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 | ||||||
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 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0055 others(27): Show |
58 | 432 | 0.1343 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | 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 | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114597738 | G | T | stop_gained | HIGH | NA18972.hp2 NA18984.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 a0003c0003t0002g0046 |
2 | 418 | 0.0048 | 0 | c.352 others(3): Show |
p.Gly others(4): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 3/3 | 422/1563 | 352/357 | 118/118 | chr9 | TogoVar | |||
AZGP1_chr7_99961730_99981031 | 99971947 | C | CG | frameshift_variant | HIGH | HG00673.hp1 HG01261.hp2 NA18972.hp2 others(4): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0020 a0002c0003t0001g0052 a0002c0003t0001g0059 others(1): Show |
7 | 430 | 0.0163 | 1 | c.135 others(4): Show |
p.Ala others(4): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/4 | 146/1181 | 135/897 | 45/298 | chr7 | TogoVar | |||
BOC_chr3_113206557_113292459 | 113216267 | TAGA | T | splice_donor_variant others(2): Show |
HIGH | HG01081.hp1 HG01256.hp2 HG01358.hp1 others(9): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0013a0001c0002t0020a0001c0002t0040others(4): Show | a0001c0001t0013g0367 a0001c0001t0013g0368 a0001c0001t0013g0369 others(9): Show |
12 | 384 | 0.0313 | -3 | c.-83 others(12): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/20 | 33528 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BRD4_chr19_15230519_15337539 | 15238833 | T | TG | frameshift_variant | HIGH | HG01175.hp2 HG01496.hp1 HG01952.hp2 others(9): Show |
a0002a0003a0009 | a0002c0007a0003c0006a0003c0011others(2): Show | a0002c0007t0003a0002c0007t0033a0003c0006t0001others(6): Show | a0002c0007t0003g0145 a0002c0007t0003g0168 a0002c0007t0033g0006 others(9): Show |
12 | 206 | 0.0583 | 1 | c.392 others(5): Show |
p.Gln others(6): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 19/20 | 4213/7231 | 3929/4089 | 1310/1362 | chr19 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(21): Show |
80 | 428 | 0.1869 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | 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 | 32394744 | C | A | stop_gained others(1): Show |
HIGH | HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0001 a0004c0003t0003g0017 a0004c0003t0003g0041 others(7): Show |
45 | 451 | 0.0998 | 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(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 | 5057216 | AACAGAGT others(4189): Show |
A | exon_loss_variant | HIGH | HG01255.hp1 NA18612.hp2 NA18945.hp2 others(7): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0001 | a0003c0004t0001g0033 a0003c0004t0001g0125 a0003c0004t0001g0131 others(6): Show |
10 | 429 | 0.0233 | -4196 | c.359 others(16): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 4/8 | chr16 | TogoVar | |||||||
C17orf107_chr17_4894536_4907934 | 4900042 | AACCGAAG | A | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp2 HG02071.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0008 | a0003c0003t0001g0001 a0003c0003t0008g0001 |
14 | 440 | 0.0318 | -7 | c.175 others(14): Show |
p.Pro others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 2/3 | 402/3201 | 175/573 | 59/190 | INFO_REALIGN_3_PRIME | chr17 | 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 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(32): Show | a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show |
77 | 378 | 0.2037 | 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 | ||
CARD19_chr9_93091217_93118283 | 93111869 | TTGTTTCC others(19): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18972.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0054 | 1 | 356 | 0.0028 | -26 | c.305 others(35): Show |
p.Gln others(5): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 4/6 | 305/552 | 102/183 | chr9 | TogoVar | ||||
CARD8_chr19_48203086_48260912 | 48231760 | C | CTT | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show |
a0003 | a0003c0006a0003c0009a0003c0019 | a0003c0006t0003a0003c0006t0007a0003c0006t0016others(3): Show | a0003c0006t0003g0051 a0003c0006t0003g0055 a0003c0006t0003g0152 others(16): Show |
19 | 360 | 0.0528 | 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 | |||
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 | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show |
176 | 390 | 0.4513 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
CCDC62_chr12_122769572_122832528 | 122798066 | TTGTCAAT others(16): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18972.hp1 | a0010 | a0010c0012 | a0010c0012t0004 | a0010c0012t0004g0021 | 1 | 296 | 0.0034 | -23 | c.862 others(33): Show |
p.Ile others(5): Show |
CCDC62 | ENSG00000130783.14 | transcript | ENST00000253079.11 | protein_coding | 8/13 | 862/2055 | 288/684 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||
CCT6A_chr7_56046765_56068989 | 56061810 | TCAGAATC others(25): Show |
T | frameshift_variant | HIGH | NA18972.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0120 | 1 | 426 | 0.0023 | -32 | c.141 others(41): Show |
p.Ser others(5): Show |
CCT6A | ENSG00000146731.11 | transcript | ENST00000275603.9 | protein_coding | 12/14 | 1496/2584 | 1412/1596 | 471/531 | chr7 | TogoVar | |||
CD40_chr20_46113314_46134858 | 46128304 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG02145.hp1 HG03927.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 others(6): Show |
15 | 236 | 0.0636 | 3 | c.647 others(14): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -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 | |||
CFHR2_chr1_196938738_196964622 | 196950930 | AAATT | A | frameshift_variant | HIGH | HG02523.hp1 NA18945.hp1 NA18969.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0012 a0002c0004t0001g0050 a0002c0004t0001g0051 |
6 | 368 | 0.0163 | -4 | c.334 others(11): Show |
p.Ile others(5): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 3/5 | 477/1498 | 334/813 | 112/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CHRDL2_chr11_74691429_74736426 | 74713457 | C | CG | frameshift_variant | HIGH | HG00558.hp2 HG02027.hp2 NA18972.hp2 others(6): Show |
a0002 | a0002c0010a0002c0011a0002c0012others(3): Show | a0002c0010t0001a0002c0010t0002a0002c0011t0001others(5): Show | a0002c0010t0001g0072 a0002c0010t0002g0331 a0002c0011t0001g0130 others(6): Show |
9 | 389 | 0.0231 | 1 | c.217 others(4): Show |
p.Arg others(4): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 3/11 | 755/1908 | 217/1290 | 73/429 | chr11 | TogoVar | |||
CHST10_chr2_100386860_100422668 | 100415112 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18972.hp2 NA18980.hp1 NA19003.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020 | a0001c0002t0001g0026 a0001c0002t0001g0121 a0001c0002t0020g0053 |
5 | 362 | 0.0138 | 0 | c.-10 others(6): Show |
CHST10 | ENSG00000115526.11 | transcript | ENST00000264249.8 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99866380 | C | T | stop_gained | HIGH | HG01978.hp1 NA18972.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0022 a0005c0006t0001g0108 |
2 | 216 | 0.0093 | 0 | c.775 others(3): Show |
p.Arg others(4): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 6/9 | 781/1181 | 775/1023 | 259/340 | chr13 | TogoVar | |||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001a0004a0006others(17): Show | a0001c0001a0001c0014a0001c0025others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(97): Show |
103 | 290 | 0.3552 | -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 | ||
COX7B2_chr4_46729827_46914245 | 46734988 | G | GGGATAGG others(9): Show |
frameshift_variant | HIGH | NA18972.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0232 | 1 | 298 | 0.0034 | 16 | c.189 others(23): Show |
p.Pro others(4): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 3/3 | 394/556 | 204/246 | 68/81 | chr4 | TogoVar | |||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001a0004a0010others(4): Show | a0001c0002a0001c0011a0001c0014others(7): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(17): Show | a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 others(55): Show |
135 | 438 | 0.3082 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | |||
CPNE1_chr20_35621044_35669900 | 35627312 | C | CA | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 others(40): Show |
46 | 270 | 0.1704 | 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 | |||
CR1_chr1_207491157_207646765 | 207538109 | TATATATA others(18532): Show |
T | exon_loss_variant | HIGH | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0165 | 1 | 358 | 0.0028 | -18539 | c.175 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||||||
CXorf51B_chrX_146804771_146815411 | 146809812 | GCCACAGA others(3365): Show |
G | exon_loss_variant | HIGH | HG00323.hp1 HG00323.hp2 HG01099.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 8 | 272 | 0.0294 | -3372 | c.22_ others(8): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 2/2 | 43/451 | chrX | 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 | |||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show |
268 | 454 | 0.5903 | 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 | |||
DCLRE1B_chr1_113900326_113919086 | 113908017 | C | T | stop_gained | HIGH | NA18972.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0084 | 1 | 444 | 0.0023 | 0 | c.364 others(3): Show |
p.Arg others(4): Show |
DCLRE1B | ENSG00000118655.8 | transcript | ENST00000650450.2 | protein_coding | 3/4 | 625/3755 | 364/1599 | 122/532 | chr1 | 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 | 48942517 | C | T | stop_gained | HIGH | HG00621.hp2 HG00738.hp2 HG01261.hp1 others(26): Show |
a0004a0013a0014 | a0004c0004a0013c0018a0014c0022 | a0004c0004t0001a0013c0018t0001a0014c0022t0001 | a0004c0004t0001g0004 a0004c0004t0001g0022 a0004c0004t0001g0053 others(10): Show |
29 | 434 | 0.0668 | 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 | |||
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 | |||
DYNLT5_chr1_66747459_66784047 | 66776404 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010a0003c0003t0021 | a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 others(29): Show |
55 | 400 | 0.1375 | 0 | c.336 others(5): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005 | a0002c0002a0002c0007a0002c0009others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show |
114 | 426 | 0.2676 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
FAM228B_chr2_24118469_24174638 | 24164308 | GC | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(17): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0002 | a0003c0004t0001g0091 a0003c0004t0001g0093 a0003c0004t0001g0094 others(17): Show |
20 | 288 | 0.0694 | -1 | c.907 others(4): Show |
p.Gln others(5): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/11 | 1004/1369 | 907/975 | 303/324 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show |
278 | 365 | 0.7616 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |