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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGAP3_chr7_151081475_151149434 | 151086813 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 0.9718 | 1 | c.73d others(3): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AGAP3_chr7_151081475_151149434 | 151086821 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.81d others(3): Show |
p.Gln others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AGAP3_chr7_151081475_151149434 | 151086831 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.91d others(3): Show |
p.Val others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | chr7 | 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 | a0004c0005t0001g0004a0004c0005t0001g0020a0004c0005t0001g0047others(12): Show | 17 | 448 | 0.0380 | 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 | |
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 | ||||||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 209 | 394 | 0.5305 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0004a0008others(9): Show | a0002c0004a0002c0007a0002c0013others(14): Show | a0002c0004t0001a0002c0007t0001a0002c0013t0001others(14): Show | a0002c0004t0001g0003a0002c0004t0001g0019a0002c0004t0001g0021others(96): Show | 101 | 298 | 0.3389 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | 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 |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0002c0001t0010a0004c0007t0001 | a0002c0001t0001g0001a0002c0001t0001g0009a0002c0001t0001g0015others(58): Show | 64 | 408 | 0.1569 | 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 | 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 | ||||||
ARL9_chr4_56500791_56529453 | 56505976 | TAAAC | T | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0004a0003c0007t0001 | a0003c0003t0001g0008a0003c0003t0001g0010a0003c0003t0001g0015others(41): Show | 61 | 416 | 0.1466 | -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 | |
ARMCX4_chrX_101480456_101500807 | 101492378 | AG | A | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0063 | a0021c0063t0001 | a0021c0063t0001g0002 | 1 | 326 | 0.0031 | -1 | c.379 others(5): Show |
p.Ser others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 4303/7729 | 3792/6873 | 1264/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101492715 | GC | G | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0063 | a0021c0063t0001 | a0021c0063t0001g0002 | 1 | 326 | 0.0031 | -1 | c.412 others(5): Show |
p.Trp others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 4639/7729 | 4128/6873 | 1376/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101493095 | TG | T | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0063 | a0021c0063t0001 | a0021c0063t0001g0002 | 1 | 326 | 0.0031 | -1 | c.451 others(5): Show |
p.Asp others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5021/7729 | 4510/6873 | 1504/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101493127 | GC | G | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0063 | a0021c0063t0001 | a0021c0063t0001g0002 | 1 | 326 | 0.0031 | -1 | c.454 others(5): Show |
p.Pro others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5052/7729 | 4541/6873 | 1514/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(418): Show |
frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0063 | a0021c0063t0001 | a0021c0063t0001g0002 | 1 | 326 | 0.0031 | 425 | c.546 others(434): Show |
p.Ala others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494112 | TG | T | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0063 | a0021c0063t0001 | a0021c0063t0001g0002 | 1 | 326 | 0.0031 | -1 | c.552 others(5): Show |
p.Pro others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6037/7729 | 5526/6873 | 1842/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494190 | TG | T | frameshift_variant | HIGH | NA18976.hp2 NA19089.hp1 |
a0021a0031 | a0021c0063a0031c0052 | a0021c0063t0001a0031c0052t0001 | a0021c0063t0001g0002a0031c0052t0001g0002 | 2 | 326 | 0.0061 | -1 | c.560 others(5): Show |
p.Glu others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6116/7729 | 5605/6873 | 1869/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARX_chrX_24998694_25020965 | 25013440 | C | CG | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0031 | 1 | 300 | 0.0033 | 1 | c.554 others(4): Show |
p.Pro others(5): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2/5 | 782/2893 | 554/1689 | 185/562 | chrX | TogoVar | ||
ARX_chrX_24998694_25020965 | 25013542 | C | CA | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0031 | 1 | 300 | 0.0033 | 1 | c.452 others(8): Show |
p.Ala others(5): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2/5 | 680/2893 | 452/1689 | 151/562 | chrX | TogoVar | ||
ARX_chrX_24998694_25020965 | 25013654 | GC | G | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0031 | 1 | 300 | 0.0033 | -1 | c.340 others(4): Show |
p.Ala others(5): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2/5 | 568/2893 | 340/1689 | 114/562 | chrX | TogoVar | ||
ARX_chrX_24998694_25020965 | 25013745 | T | TG | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0031 | 1 | 300 | 0.0033 | 1 | c.249 others(4): Show |
p.Lys others(4): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2/5 | 477/2893 | 249/1689 | 83/562 | chrX | TogoVar | ||
ARX_chrX_24998694_25020965 | 25015695 | CG | C | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0031 | 1 | 300 | 0.0033 | -1 | c.42d others(3): Show |
p.Glu others(4): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1/5 | 270/2893 | 42/1689 | 14/562 | chrX | TogoVar | ||
ARX_chrX_24998694_25020965 | 25015711 | GC | G | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0031 | 1 | 300 | 0.0033 | -1 | c.26d others(3): Show |
p.Gly others(3): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1/5 | 254/2893 | 26/1689 | 9/562 | chrX | 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 | ||
CACNA1F_chrX_49200063_49238340 | 49218463 | C | CA | frameshift_variant | HIGH | NA19089.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0078 | 1 | 290 | 0.0035 | 1 | c.291 others(10): Show |
p.Gly others(5): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 24/48 | 2950/6006 | 2919/5901 | 973/1966 | chrX | 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 | ||||||
CCDC78_chr16_717582_731443 | 722979 | GTGGCCCG others(10): Show |
G | frameshift_variant | HIGH | NA19089.hp2 | a0015 | a0015c0021 | a0015c0021t0001 | a0015c0021t0001g0034 | 1 | 390 | 0.0026 | -17 | c.122 others(26): Show |
p.Gln others(5): Show |
CCDC78 | ENSG00000162004.19 | transcript | ENST00000345165.10 | protein_coding | 13/14 | 1319/1585 | 1227/1413 | 409/470 | chr16 | 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 | ||
CCNL2_chr1_1380711_1404335 | 1398672 | CTAGAG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0002g0042others(35): Show | 52 | 370 | 0.1405 | -5 | c.289 others(16): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CDK16_chrX_47213681_47234997 | 47226996 | AC | A | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0070 | 1 | 312 | 0.0032 | -1 | c.114 others(5): Show |
p.Pro others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 12/16 | 1573/3151 | 1142/1491 | 381/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDK16_chrX_47213681_47234997 | 47227389 | GA | G | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0070 | 1 | 312 | 0.0032 | -1 | c.129 others(5): Show |
p.Asn others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 14/16 | 1729/3151 | 1298/1491 | 433/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDK16_chrX_47213681_47234997 | 47227417 | GA | G | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0070 | 1 | 312 | 0.0032 | -1 | c.132 others(5): Show |
p.Lys others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 14/16 | 1757/3151 | 1326/1491 | 442/496 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CDK16_chrX_47213681_47234997 | 47227462 | TC | T | frameshift_variant | HIGH | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0070 | 1 | 312 | 0.0032 | -1 | c.137 others(5): Show |
p.Pro others(5): Show |
CDK16 | ENSG00000102225.17 | transcript | ENST00000357227.9 | protein_coding | 14/16 | 1801/3151 | 1370/1491 | 457/496 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
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 | ||
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 | ||
CHM_chrX_85856180_86052558 | 85963837 | TC | T | frameshift_variant | HIGH | NA19089.hp2 | a0007 | a0007c0007 | a0007c0007t0023 | a0007c0007t0023g0162 | 1 | 245 | 0.0041 | -1 | c.529 others(4): Show |
p.Glu others(5): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 5/15 | 555/5438 | 529/1962 | 177/653 | chrX | TogoVar | ||
CLIC2_chrX_155271211_155339614 | 155277957 | A | AG | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0107 | 1 | 258 | 0.0039 | 1 | c.689 others(4): Show |
p.Glu others(5): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 6/6 | 876/2623 | 689/744 | 230/247 | chrX | TogoVar | ||
CLIC2_chrX_155271211_155339614 | 155277988 | T | TC | frameshift_variant others(1): Show |
HIGH | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0107 | 1 | 258 | 0.0039 | 1 | c.658 others(8): Show |
p.Tyr others(5): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 6/6 | 845/2623 | 658/744 | 220/247 | chrX | 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 | |||||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0003a0008a0009others(1): Show | a0003c0005a0003c0008a0003c0028others(3): Show | a0003c0005t0001a0003c0008t0001a0003c0028t0001others(3): Show | a0003c0005t0001g0004a0003c0005t0001g0045a0003c0005t0001g0046others(19): Show | 41 | 438 | 0.0936 | 0 | c.976 others(3): Show |
p.Gln others(4): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 19/32 | 1065/2852 | 976/2070 | 326/689 | chr1 | TogoVar | ||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show |
a0002a0005a0010others(4): Show | a0002c0002a0002c0011a0002c0014others(7): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(17): Show | a0002c0002t0003g0002a0002c0002t0003g0004a0002c0002t0003g0006others(62): Show | 136 | 440 | 0.3091 | 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 | ||
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 | ||||||
CYP2C18_chr10_94678729_94741190 | 94687805 | T | A | stop_gained | HIGH | HG01884.hp1 HG02258.hp2 HG02630.hp2 others(21): Show |
a0003 | a0003c0003a0003c0007a0003c0010 | a0003c0003t0001a0003c0003t0006a0003c0007t0001others(1): Show | a0003c0003t0001g0048a0003c0003t0001g0236a0003c0003t0006g0014others(13): Show | 24 | 378 | 0.0635 | 0 | c.204 others(3): Show |
p.Tyr others(3): Show |
CYP2C18 | ENSG00000108242.13 | transcript | ENST00000285979.11 | protein_coding | 2/9 | 295/2310 | 204/1473 | 68/490 | chr10 | TogoVar | ||
CYP2C19_chr10_94757681_94860547 | 94780653 | G | A | stop_gained | HIGH | HG03490.hp1 HG03492.hp1 HG03831.hp2 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0002a0003c0004t0006g0003a0003c0004t0006g0030others(10): Show | 17 | 364 | 0.0467 | 0 | c.636 others(3): Show |
p.Trp others(4): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 4/9 | 661/4131 | 636/1473 | 212/490 | chr10 | TogoVar | ||
DAZ3_chrY_24758069_24818393 | 24785607 | CAAAAAAA others(9504): Show |
C | exon_loss_variant | HIGH | NA19089.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0024 | 1 | 45 | 0.0222 | -9511 | c.786 others(16): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 14/19 | chrY | TogoVar | ||||||
DCAF8L2_chrX_27585344_27754942 | 27747280 | GA | G | frameshift_variant | HIGH | NA19089.hp1 | a0024 | a0024c0031 | a0024c0031t0001 | a0024c0031t0001g0178 | 1 | 262 | 0.0038 | -1 | c.387 others(4): Show |
p.Glu others(5): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 5/5 | 825/3485 | 387/1896 | 129/631 | INFO_REALIGN_3_PRIME | chrX | 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 |