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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA10_chr17_69143007_69233824 | 69154010 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18963.hp2 NA19001.hp1 NA19078.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0127 |
3 | 346 | 0.0087 | 0 | c.378 others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/38 | chr17 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 90756446 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(41): Show |
a0001a0005a0014others(16): Show | a0001c0001a0001c0008a0005c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(20): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(41): Show |
44 | 156 | 0.2821 | 1 | c.115 others(8): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 55/89 | INFO_REALIGN_3_PRIME | chr5 | 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 | ||
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 | ||||||
APOBEC3G_chr22_39072275_39092743 | 39077363 | T | C | start_lost | HIGH | NA18963.hp1 | a0010 | a0010c0007 | a0010c0007t0001 | a0010c0007t0001g0001 | 1 | 422 | 0.0024 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
APOBEC3G | ENSG00000239713.9 | transcript | ENST00000407997.4 | protein_coding | 1/8 | 89/1564 | 2/1155 | 1/384 | chr22 | 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 | |||
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 | ||
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 | ||
ASMT_chrX_1610059_1648081 | 1633238 | GGCAAAGC others(16): Show |
G | frameshift_variant | HIGH | NA18963.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0108 | 1 | 220 | 0.0045 | -23 | c.737 others(30): Show |
p.Ala others(5): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/9 | 878/1330 | 737/1122 | 246/373 | INFO_REALIGN_3_PRIME | chrX | 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 | |||
AVPI1_chr10_97672424_97692241 | 97679916 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
101 | 444 | 0.2275 | 0 | c.-10 others(5): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/2 | chr10 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212697005 | T | A | stop_gained | HIGH | NA18963.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0205 | 1 | 460 | 0.0022 | 0 | c.151 others(3): Show |
p.Arg others(3): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/3 | 229/836 | 151/384 | 51/127 | chr1 | 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 | ||||||
CAPN15_chr16_522712_559636 | 536144 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0018 a0001c0001t0001g0359 a0001c0001t0001g0361 others(41): Show |
46 | 408 | 0.1127 | 0 | c.-23 others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44793589 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show |
a0002a0004a0009 | a0002c0002a0002c0007a0004c0004others(1): Show | a0002c0002t0001a0002c0007t0001a0004c0004t0001others(1): Show | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 others(41): Show |
47 | 342 | 0.1374 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 8/11 | 1298/1576 | 1256/1425 | 419/474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CBX8_chr17_79787132_79802077 | 79795262 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01261.hp2 HG02055.hp2 others(7): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0044 a0003c0003t0002g0045 a0003c0003t0003g0047 others(6): Show |
10 | 410 | 0.0244 | 1 | c.542 others(4): Show |
p.Thr others(5): Show |
CBX8 | ENSG00000141570.11 | transcript | ENST00000269385.9 | protein_coding | 5/5 | 621/3752 | 542/1170 | 181/389 | chr17 | TogoVar | |||
CCDC170_chr6_151489017_151626193 | 151573279 | G | T | stop_gained | HIGH | NA18963.hp2 NA18981.hp2 |
a0015 | a0015c0024 | a0015c0024t0003a0015c0024t0015 | a0015c0024t0003g0278 a0015c0024t0015g0277 |
2 | 318 | 0.0063 | 0 | c.880 others(3): Show |
p.Glu others(4): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 6/11 | 992/5306 | 880/2148 | 294/715 | chr6 | TogoVar | |||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show |
260 | 360 | 0.7222 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
186 | 454 | 0.4097 | 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 | |||
CD40_chr20_46113314_46134858 | 46128304 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show |
118 | 339 | 0.3481 | 2 | c.647 others(13): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
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 | |||
CLASRP_chr19_45034045_45075956 | 45064224 | C | CT | frameshift_variant others(1): Show |
HIGH | HG02886.hp2 HG02970.hp2 NA18963.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0023 a0003c0003t0001g0090 a0003c0003t0001g0108 others(3): Show |
6 | 362 | 0.0166 | 1 | c.111 others(10): Show |
p.Arg others(5): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 12/21 | 1212/2229 | 1119/2025 | 373/674 | chr19 | 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 | |||
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 | ||
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 | |||
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 | |||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(4): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0016a0001c0002t0001a0001c0002t0004others(31): Show | a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(76): Show |
79 | 93 | 0.8495 | 11 | c.623 others(23): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(28): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 NA18963.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0005a0001c0018t0030 | a0001c0001t0005g0221 a0001c0018t0030g0215 |
2 | 16 | 0.1250 | 35 | c.623 others(46): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0017others(2): Show | a0002c0002a0002c0005a0002c0024others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0024t0001others(7): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show |
132 | 433 | 0.3049 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
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 | 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 | 122601959 | TGTCAGCC others(8111): Show |
T | exon_loss_variant | HIGH | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0007a0002c0008others(2): Show | a0001c0001t0002a0002c0007t0003a0002c0007t0004others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0240 others(9): Show |
16 | 221 | 0.0724 | -8118 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | 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 | |||||||
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 | |||||||
ECHDC3_chr10_11737382_11769070 | 11755407 | G | C | splice_acceptor_variant others(1): Show |
HIGH | NA18963.hp2 | a0011 | a0011c0016 | a0011c0016t0002 | a0011c0016t0002g0186 | 1 | 418 | 0.0024 | 0 | c.391 others(5): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 3/4 | chr10 | 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 | |||||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0003a0004a0005others(9): Show | a0003c0002a0003c0042a0003c0043others(12): Show | a0003c0002t0002a0003c0002t0012a0003c0002t0019others(16): Show | a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(20): Show |
155 | 420 | 0.3690 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | |||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(345): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(165): Show |
348 | 364 | 0.9560 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | |||
FMO2_chr1_171180300_171217686 | 171209118 | C | CT | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show |
a0002a0004 | a0002c0002a0002c0019a0004c0009 | a0002c0002t0004a0002c0002t0005a0002c0002t0025others(2): Show | a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0009 others(34): Show |
81 | 364 | 0.2225 | 1 | c.158 others(5): Show |
p.Cys others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1655/5215 | 1589/1608 | 530/535 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
GEMIN7_chr19_45074260_45096518 | 45090407 | A | ATGTGGCC others(9): Show |
frameshift_variant | HIGH | NA18963.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 1 | 418 | 0.0024 | 16 | c.294 others(23): Show |
p.Val others(5): Show |
GEMIN7 | ENSG00000142252.11 | transcript | ENST00000270257.9 | protein_coding | 3/3 | 559/1653 | 310/396 | 104/131 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GP6_chr19_55008705_55043264 | 55014735 | G | GCAGA | frameshift_variant | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003 | a0003c0003a0003c0016a0003c0019others(1): Show | a0003c0003t0003a0003c0016t0003a0003c0019t0003others(1): Show | a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0009 others(48): Show |
58 | 440 | 0.1318 | 4 | c.120 others(13): Show |
p.Pro others(5): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1237/2268 | 1209/1863 | 403/620 | chr19 | TogoVar | |||
GPATCH1_chr19_33076181_33135542 | 33088112 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01928.hp2 NA18906.hp2 NA18956.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0004a0003c0023 | a0002c0002t0001a0003c0004t0001a0003c0004t0004others(1): Show | a0002c0002t0001g0183 a0002c0002t0001g0211 a0002c0002t0001g0212 others(3): Show |
6 | 195 | 0.0308 | 1 | c.74- others(5): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GSTM1_chr1_109682817_109698745 | 109682998 | TTCCAGTC others(15740): Show |
T | transcript_ablation | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 95 | 255 | 0.3725 | -15747 | c.-48 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
GTPBP3_chr19_17332553_17347731 | 17341646 | A | AG | frameshift_variant | HIGH | HG00423.hp1 HG00558.hp2 HG01099.hp2 others(46): Show |
a0004a0005a0006 | a0004c0004a0005c0005a0005c0020others(1): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0005others(7): Show | a0004c0004t0001g0006 a0004c0004t0001g0007 a0004c0004t0001g0019 others(19): Show |
49 | 405 | 0.1210 | 1 | c.142 others(5): Show |
p.Thr others(5): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 9/9 | 1487/2566 | 1428/1479 | 476/492 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0008 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show |
112 | 330 | 0.3394 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
H2BW2 | ENSG00000101812.15 | transcript | ENST00000675318.3 | protein_coding | 1/4 | 238/870 | 199/447 | 67/148 | chrX | TogoVar |