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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9093580 | CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0013a0014 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show |
50 | 330 | 0.1515 | -5 | c.212 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69149049 | TGA | T | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show |
42 | 346 | 0.1214 | -2 | c.451 others(11): Show |
p.Gln others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 38/39 | 5072/6008 | 4515/4632 | 1505/1543 | chr17 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69153832 | G | A | stop_gained others(1): Show |
HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show |
42 | 346 | 0.1214 | 0 | c.396 others(4): Show |
p.Arg others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 32/39 | 4520/6008 | 3964/4632 | 1322/1543 | chr17 | TogoVar | |||
ABCA10_chr17_69143007_69233824 | 69194395 | AACAG | A | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show |
42 | 346 | 0.1214 | -4 | c.133 others(13): Show |
p.Ser others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 12/39 | 1890/6008 | 1331/4632 | 444/1543 | chr17 | TogoVar | |||
ABCB5_chr7_20610667_20762008 | 20626612 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(67): Show |
a0002a0003a0005others(10): Show | a0002c0003a0003c0002a0003c0010others(13): Show | a0002c0003t0001a0003c0002t0001a0003c0002t0002others(19): Show | a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 others(67): Show |
70 | 358 | 0.1955 | 0 | c.108 others(5): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ACSL6_chr5_131944973_132016658 | 131990123 | AAGGCTGC others(16): Show |
A | frameshift_variant | HIGH | NA18974.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0208 | 1 | 324 | 0.0031 | -23 | c.404 others(30): Show |
p.Gly others(5): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 4/21 | 531/6535 | 404/2169 | 135/722 | chr5 | TogoVar | |||
ACSM2A_chr16_20446521_20492669 | 20465682 | C | T | stop_gained | HIGH | HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show |
a0006 | a0006c0006a0006c0016 | a0006c0006t0002a0006c0006t0003a0006c0006t0009others(2): Show | a0006c0006t0002g0015 a0006c0006t0002g0040 a0006c0006t0002g0256 others(27): Show |
34 | 434 | 0.0783 | 0 | c.343 others(3): Show |
p.Arg others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 512/2894 | 343/1734 | 115/577 | chr16 | TogoVar | |||
ACSM4_chr12_7299072_7333719 | 7322485 | C | T | stop_gained | HIGH | HG01168.hp1 HG01243.hp1 HG02572.hp1 others(10): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0001 | a0003c0004t0001g0013 a0003c0004t0001g0017 a0003c0004t0001g0050 others(2): Show |
13 | 428 | 0.0304 | 0 | c.106 others(4): Show |
p.Gln others(4): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 7/13 | 1329/2349 | 1069/1743 | 357/580 | chr12 | TogoVar | |||
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 | |||
AKR1C8_chr10_5148920_5190150 | 5159943 | GTGATTGA others(229): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005 a0003c0004t0002g0009 a0003c0004t0002g0010 others(27): Show |
43 | 406 | 0.1059 | -236 | c.457 others(11): Show |
p.Ala others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/9 | 564/1247 | 457/981 | 153/326 | chr10 | TogoVar | |||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(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 | |||||||
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 | |||||||
AQP12B_chr2_240671418_240687885 | 240682382 | GC | G | frameshift_variant | HIGH | HG02622.hp1 NA18906.hp2 NA18974.hp2 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0025 a0006c0006t0002g0075 a0006c0006t0002g0076 |
4 | 178 | 0.0225 | -1 | c.455 others(4): Show |
p.Ser others(5): Show |
AQP12B | ENSG00000185176.13 | transcript | ENST00000407834.4 | protein_coding | 1/3 | 503/1099 | 455/924 | 152/307 | chr2 | TogoVar | |||
ARHGEF10_chr8_1818926_1963641 | 1864360 | TCTTTCCC others(5): Show |
T | splice_acceptor_variant others(2): Show |
HIGH | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 362 | 0.0028 | -12 | c.482 others(24): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 4/28 | chr8 | TogoVar | |||||||
ARL6IP4_chr12_122975681_122987909 | 122981819 | C | CTGCCGGG others(16): Show |
frameshift_variant | HIGH | NA18974.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 1 | 354 | 0.0028 | 23 | c.412 others(30): Show |
p.Trp others(5): Show |
ARL6IP4 | ENSG00000182196.14 | transcript | ENST00000315580.10 | protein_coding | 3/6 | 511/1023 | 435/714 | 145/237 | INFO_REALIGN_3_PRIME | chr12 | 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 | ||
ASB15_chr7_123596821_123644481 | 123627256 | C | T | stop_gained | HIGH | HG01070.hp2 HG01071.hp2 NA18971.hp2 others(4): Show |
a0005 | a0005c0007 | a0005c0007t0003a0005c0007t0004a0005c0007t0010others(1): Show | a0005c0007t0003g0003 a0005c0007t0003g0041 a0005c0007t0003g0042 others(4): Show |
7 | 378 | 0.0185 | 0 | c.844 others(3): Show |
p.Arg others(4): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 9/12 | 1182/4605 | 844/1767 | 282/588 | chr7 | TogoVar | |||
BLTP1_chr4_122147331_122367752 | 122250531 | CCCTTCCT others(4): Show |
C | frameshift_variant | HIGH | NA18974.hp2 | a0017 | a0017c0028 | a0017c0028t0001 | a0017c0028t0001g0058 | 1 | 334 | 0.0030 | -11 | c.588 others(20): Show |
p.Pro others(6): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 37/88 | 6257/16162 | 5882/15282 | 1961/5093 | INFO_REALIGN_3_PRIME | chr4 | 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 | ||||||
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 | |||||||
C1QTNF9_chr13_24304580_24327531 | 24318877 | C | T | stop_gained | HIGH | NA18974.hp1 NA18985.hp2 NA18989.hp1 others(2): Show |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0002 a0009c0009t0001g0034 a0009c0009t0001g0184 |
5 | 464 | 0.0108 | 0 | c.226 others(3): Show |
p.Arg others(3): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 3/4 | 285/1824 | 226/1002 | 76/333 | chr13 | TogoVar | |||
CBARP_chr19_1223287_1243005 | 1229582 | C | CG | frameshift_variant | HIGH | HG02055.hp1 HG03669.hp1 HG03831.hp1 others(11): Show |
a0004a0015a0016others(1): Show | a0004c0006a0004c0015a0004c0026others(3): Show | a0004c0006t0001a0004c0006t0004a0004c0006t0010others(7): Show | a0004c0006t0001g0067 a0004c0006t0001g0084 a0004c0006t0001g0120 others(11): Show |
14 | 406 | 0.0345 | 1 | c.171 others(5): Show |
p.Arg others(5): Show |
CBARP | ENSG00000099625.14 | transcript | ENST00000650044.2 | protein_coding | 10/10 | 1985/3281 | 1714/2118 | 572/705 | chr19 | TogoVar | |||
CBX6_chr22_38856422_38877216 | 38866655 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG01358.hp1 HG02055.hp1 others(9): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0076 a0002c0002t0002g0130 a0002c0002t0003g0068 others(8): Show |
12 | 404 | 0.0297 | 1 | c.792 others(4): Show |
p.Ala others(5): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 5/5 | 818/6052 | 792/1239 | 264/412 | chr22 | 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 | a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show |
79 | 217 | 0.3641 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC28B_chr1_32195595_32210387 | 32205217 | A | AGAGGGTC others(4): Show |
frameshift_variant | HIGH | NA18974.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0028 | 1 | 414 | 0.0024 | 11 | c.572 others(18): Show |
p.Asn others(5): Show |
CCDC28B | ENSG00000160050.16 | transcript | ENST00000373602.10 | protein_coding | 6/6 | 711/880 | 573/603 | 191/200 | chr1 | 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 | ||||||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show |
163 | 392 | 0.4158 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show |
181 | 409 | 0.4425 | 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 | ||
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 | |||
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 | ||||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show |
137 | 215 | 0.6372 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | 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 | ||||||
CR1_chr1_207491157_207646765 | 207544734 | TTGCTACA others(18549): Show |
T | exon_loss_variant | HIGH | HG00735.hp1 HG02004.hp1 NA18974.hp1 others(1): Show |
a0003a0004a0019 | a0003c0003a0004c0009a0019c0031 | a0003c0003t0001a0004c0009t0001a0019c0031t0001 | a0003c0003t0001g0266 a0004c0009t0001g0045 a0004c0009t0001g0146 others(1): Show |
4 | 358 | 0.0112 | -18556 | c.234 others(9): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 15/47 | 2451/9937 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CSF1_chr1_109905849_109935992 | 109923714 | A | AC | frameshift_variant | HIGH | HG00673.hp1 HG01106.hp1 HG01123.hp1 others(27): Show |
a0004a0005a0008others(1): Show | a0004c0007a0004c0010a0004c0013others(6): Show | a0004c0007t0001a0004c0007t0002a0004c0007t0004others(12): Show | a0004c0007t0001g0015 a0004c0007t0002g0002 a0004c0007t0002g0006 others(25): Show |
30 | 429 | 0.0699 | 1 | c.109 others(5): Show |
p.Ala others(5): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 6/9 | 1271/3994 | 1096/1665 | 366/554 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(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 | |||||||
CYP2D6_chr22_42121499_42135810 | 42123231 | GCCTCTGC others(12145): Show |
G | transcript_ablation | HIGH | HG00621.hp2 HG01069.hp1 HG01192.hp2 others(11): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 14 | 414 | 0.0338 | -12152 | c.-45 others(11): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | 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 | |||
DAZ2_chrY_23214533_23296356 | 23236892 | A | AT | frameshift_variant | HIGH | NA18974.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 52 | 0.0192 | 1 | c.781 others(4): Show |
p.Tyr others(5): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 10/28 | 990/4065 | 782/1965 | 261/654 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
DAZ2_chrY_23214533_23296356 | 23237719 | TAGACTTC others(4753): Show |
T | exon_loss_variant | HIGH | NA18974.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 52 | 0.0192 | -4760 | c.786 others(15): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23244054 | AT | A | frameshift_variant | HIGH | NA18974.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 52 | 0.0192 | -1 | c.997 others(4): Show |
p.Tyr others(5): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 13/28 | 1205/4065 | 997/1965 | 333/654 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
DAZ2_chrY_23214533_23296356 | 23244142 | CTGGTCAT others(7148): Show |
C | exon_loss_variant | HIGH | HG01074.hp1 NA18974.hp1 NA19091.hp1 |
a0003a0007 | a0003c0003a0007c0010 | a0003c0003t0001a0007c0010t0001 | a0003c0003t0001g0028 a0003c0003t0001g0038 a0007c0010t0001g0048 |
3 | 44 | 0.0682 | -7155 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23271699 | TTAAATAA others(7146): Show |
T | exon_loss_variant | HIGH | NA18974.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0048 | 1 | 51 | 0.0196 | -7153 | c.157 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chrY | 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 | ||
DFFA_chr1_10451522_10477529 | 10472433 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
a0002 | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(57): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show |
195 | 436 | 0.4472 | 1 | c.25d others(3): Show |
p.Val others(3): Show |
DFFA | ENSG00000160049.12 | transcript | ENST00000377038.8 | protein_coding | 1/6 | 96/6035 | 25/996 | 9/331 | 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 | ||
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 | ||||||
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(36): Show |
a0002a0003a0007others(4): Show | a0002c0007a0002c0008a0003c0003others(7): Show | a0002c0007t0003a0002c0007t0004a0002c0008t0002others(9): Show | a0002c0007t0003g0234 a0002c0007t0004g0233 a0002c0008t0002g0008 others(30): Show |
39 | 217 | 0.1797 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0002a0003a0006others(21): Show | a0002c0007a0003c0003a0003c0054others(26): Show | a0002c0007t0001a0002c0007t0004a0003c0003t0001others(32): Show | a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 others(86): Show |
99 | 269 | 0.3680 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0046others(11): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(14): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0125 others(40): Show |
45 | 252 | 0.1786 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |