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 | |||||||
AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0038others(11): Show | a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show |
73 | 430 | 0.1698 | 0 | c.39C others(2): Show |
p.Cys others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 106/4055 | 39/1224 | 13/407 | chr1 | TogoVar | |||
ABCB5_chr7_20610667_20762008 | 20626612 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(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 | |||||||
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 | |||
ALDH1L1_chr3_126098570_126185586 | 126155400 | A | T | splice_donor_variant others(1): Show |
HIGH | NA18995.hp1 | a0026 | a0026c0025 | a0026c0025t0001 | a0026c0025t0001g0151 | 1 | 336 | 0.0030 | 0 | c.630 others(5): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 5/22 | chr3 | 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 | |||||||
ALKBH3_chr11_43875831_43925274 | 43884007 | C | T | stop_gained | HIGH | NA18995.hp2 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0033 | 1 | 374 | 0.0027 | 0 | c.208 others(3): Show |
p.Arg others(3): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 4/10 | 627/1544 | 208/861 | 70/286 | chr11 | 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 | 36191797 | ACT | A | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(13): Show | a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0011 others(63): Show |
129 | 432 | 0.2986 | -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 | |||
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 | |||
ATG9B_chr7_151010151_151029494 | 151017125 | G | A | stop_gained | HIGH | NA18995.hp2 NA19010.hp2 |
a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0034 | 2 | 464 | 0.0043 | 0 | c.220 others(4): Show |
p.Arg others(4): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 9/14 | 2271/3423 | 2200/2775 | 734/924 | chr7 | TogoVar | |||
ATG9B_chr7_151010151_151029494 | 151018369 | G | C | stop_gained | HIGH | NA18995.hp1 NA19005.hp2 NA19074.hp2 |
a0012a0030 | a0012c0017a0030c0043 | a0012c0017t0001a0030c0043t0001 | a0012c0017t0001g0038 a0030c0043t0001g0091 |
3 | 464 | 0.0065 | 0 | c.179 others(4): Show |
p.Tyr others(4): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 7/14 | 1868/3423 | 1797/2775 | 599/924 | chr7 | TogoVar | |||
ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(155): Show |
159 | 299 | 0.5318 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | 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 | |||
BRD4_chr19_15230519_15337539 | 15244475 | C | CG | frameshift_variant | HIGH | HG00741.hp1 HG01109.hp1 HG01175.hp2 others(16): Show |
a0002a0005a0011 | a0002c0003a0002c0007a0002c0018others(7): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(14): Show | a0002c0003t0001g0048 a0002c0003t0002g0090 a0002c0003t0003g0193 others(16): Show |
19 | 206 | 0.0922 | 1 | c.233 others(5): Show |
p.Pro others(5): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 13/20 | 2620/7231 | 2336/4089 | 779/1362 | chr19 | 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 | |||||||
C17orf107_chr17_4894536_4907934 | 4900416 | G | A | stop_gained | HIGH | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show |
94 | 440 | 0.2136 | 0 | c.456 others(3): Show |
p.Trp others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 3/3 | 683/3201 | 456/573 | 152/190 | chr17 | TogoVar | |||
C3orf49_chr3_63814299_63853636 | 63831135 | C | CACACT | frameshift_variant | HIGH | HG00621.hp2 HG00673.hp2 HG02027.hp2 others(17): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0027 a0003c0003t0001g0043 others(11): Show |
20 | 386 | 0.0518 | 5 | c.597 others(12): Show |
p.Phe others(5): Show |
C3orf49 | ENSG00000163632.15 | transcript | ENST00000295896.13 | protein_coding | 4/7 | 775/1355 | 602/879 | 201/292 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
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 | ||||||
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 | |||||||
CD177_chr19_43348686_43368172 | 43362260 | G | A | stop_gained | HIGH | HG02015.hp1 NA18962.hp2 NA18995.hp2 others(2): Show |
a0011a0025 | a0011c0009a0025c0027 | a0011c0009t0003a0025c0027t0003 | a0011c0009t0003g0004 a0011c0009t0003g0067 a0025c0027t0003g0137 |
5 | 464 | 0.0108 | 0 | c.125 others(4): Show |
p.Trp others(4): Show |
CD177 | ENSG00000204936.10 | transcript | ENST00000618265.5 | protein_coding | 9/9 | 1283/2195 | 1254/1314 | 418/437 | chr19 | 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 | |||
CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(7): Show |
28 | 401 | 0.0698 | -32 | c.181 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071468 | G | GC | frameshift_variant | HIGH | HG01109.hp2 HG01169.hp2 HG01175.hp1 others(20): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
23 | 334 | 0.0689 | 1 | c.197 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | 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 | ||
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(31): Show |
85 | 406 | 0.2094 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
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 | ||||||
CNOT1_chr16_58514951_58634826 | 58586548 | T | A | stop_gained | HIGH | NA18995.hp1 | a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0173 | 1 | 306 | 0.0033 | 0 | c.634 others(3): Show |
p.Arg others(4): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/49 | 907/8411 | 634/7131 | 212/2376 | chr16 | TogoVar | |||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
134 | 368 | 0.3641 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | 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 | |||
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 | |||||||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 others(89): Show |
114 | 372 | 0.3065 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CYP4A22_chr1_47132441_47154727 | 47144549 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 438 | 0.0046 | 0 | c.898 others(5): Show |
CYP4A22 | ENSG00000162365.13 | transcript | ENST00000371891.8 | protein_coding | 7/11 | chr1 | TogoVar | |||||||
CYP4A22_chr1_47132441_47154727 | 47144551 | TG | T | frameshift_variant | HIGH | HG00280.hp1 HG00408.hp2 HG02080.hp1 others(12): Show |
a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0008 a0006c0007t0004g0010 |
15 | 438 | 0.0342 | -1 | c.901 others(4): Show |
p.Glu others(5): Show |
CYP4A22 | ENSG00000162365.13 | transcript | ENST00000371891.8 | protein_coding | 8/12 | 946/2535 | 901/1560 | 301/519 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
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 | |||
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 | |||
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 | ||||||
DNAJC28_chr21_33483055_33496716 | 33488442 | CAATTA | C | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0012 others(3): Show |
61 | 414 | 0.1473 | -5 | c.947 others(12): Show |
p.Leu others(5): Show |
DNAJC28 | ENSG00000177692.13 | transcript | ENST00000381947.4 | protein_coding | 2/2 | 1097/1485 | 947/1167 | 316/388 | chr21 | 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 | |||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 others(194): Show |
212 | 372 | 0.5699 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | 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 | ||
EGF_chr4_109907883_110018766 | 110011233 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0014a0017 | a0003c0003a0014c0015a0017c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002 a0003c0003t0005g0003 a0003c0003t0005g0019 others(43): Show |
47 | 386 | 0.1218 | 1 | c.340 others(5): Show |
p.Gln others(6): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 24/24 | 3860/6388 | 3407/3624 | 1136/1207 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(216): Show |
221 | 226 | 0.9779 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | TogoVar | |||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show |
126 | 448 | 0.2813 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | |||
FAM86B1_chr8_12177106_12199082 | 12189807 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp1 HG00558.hp2 others(51): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0011others(7): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 others(38): Show |
54 | 174 | 0.3103 | 0 | c.240 others(5): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
FAM90A19_chr8_7748682_7761692 | 7755067 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
a0001a0003a0005others(25): Show | a0001c0001a0001c0033a0003c0003others(26): Show | a0001c0001t0001a0001c0033t0001a0003c0003t0001others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(48): Show |
73 | 116 | 0.6293 | 0 | c.432 others(5): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 3/3 | chr8 | TogoVar |