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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
DCLK2_chr4_150073445_150262438 | 150256193 | T | TC | frameshift_variant | HIGH | HG00544.hp1 HG01255.hp1 HG01255.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(1): Show | a0003c0004t0001g0049 a0003c0004t0001g0090 a0003c0004t0002g0010 others(3): Show |
6 | 114 | 0.0526 | 1 | c.225 others(5): Show |
p.Ala others(5): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 16/16 | 2834/4075 | 2251/2301 | 751/766 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DDX51_chr12_132131594_132149319 | 132144070 | A | AC | frameshift_variant | HIGH | HG01255.hp1 HG01981.hp2 HG02809.hp1 others(3): Show |
a0007 | a0007c0011a0007c0014a0007c0023 | a0007c0011t0001a0007c0014t0002a0007c0014t0004others(1): Show | a0007c0011t0001g0016 a0007c0014t0002g0037 a0007c0014t0004g0038 others(1): Show |
6 | 332 | 0.0181 | 1 | c.226 others(4): Show |
p.Val others(4): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1/15 | 249/4702 | 226/2001 | 76/666 | chr12 | 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 | |||
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0006a0007a0011others(81): Show | a0006c0214a0006c0262a0006c0266others(98): Show | a0006c0214t0006a0006c0262t0001a0006c0266t0005others(99): Show | a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 others(104): Show |
107 | 296 | 0.3615 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 1/82 | 307/14343 | 100/13551 | 34/4516 | chr7 | TogoVar | |||
DNAH8_chr6_38710311_39035792 | 38770561 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01255.hp2 HG01891.hp1 HG02559.hp1 others(6): Show |
a0009a0012a0015others(4): Show | a0009c0127a0012c0126a0015c0044others(5): Show | a0009c0127t0001a0012c0126t0001a0015c0044t0001others(5): Show | a0009c0127t0001g0146 a0012c0126t0001g0222 a0015c0044t0001g0021 others(6): Show |
9 | 284 | 0.0317 | 0 | c.176 others(6): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | chr6 | TogoVar | |||||||
DNAJB7_chr22_40854549_40867113 | 40861830 | T | TA | frameshift_variant | HIGH | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 16 | 408 | 0.0392 | 1 | c.164 others(4): Show |
p.Leu others(4): Show |
DNAJB7 | ENSG00000172404.5 | transcript | ENST00000307221.5 | protein_coding | 1/1 | 283/2565 | 164/930 | 55/309 | chr22 | TogoVar | |||
DTNBP1_chr6_15517807_15668028 | 15533238 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01255.hp1 HG02055.hp2 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0003g0291 a0002c0002t0001g0258 a0002c0002t0001g0259 others(8): Show |
11 | 312 | 0.0353 | 0 | c.667 others(5): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 8/9 | chr6 | 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 | |||||||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show |
114 | 288 | 0.3958 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32943738 | C | T | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(28): Show |
a0004a0005a0008others(5): Show | a0004c0004a0005c0037a0008c0007others(5): Show | a0004c0004t0001a0004c0004t0003a0005c0037t0004others(8): Show | a0004c0004t0001g0091 a0004c0004t0003g0060 a0004c0004t0003g0061 others(28): Show |
31 | 282 | 0.1099 | 0 | c.289 others(4): Show |
p.Gln others(4): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 23/27 | 2987/4197 | 2893/3867 | 965/1288 | chr20 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143860089 | GCACGCCC others(3): Show |
G | frameshift_variant | HIGH | HG01255.hp1 | a0073 | a0073c0102 | a0073c0102t0002 | a0073c0102t0002g0211 | 1 | 422 | 0.0024 | -10 | c.131 others(21): Show |
p.Trp others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13239/16005 | 13155/15267 | 4385/5088 | chr8 | TogoVar | |||
FAM81B_chr5_95386366_95455441 | 95414083 | C | T | stop_gained | HIGH | HG00735.hp2 HG01255.hp1 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002 | a0004c0004t0001g0063 a0004c0004t0002g0064 |
2 | 346 | 0.0058 | 0 | c.430 others(3): Show |
p.Gln others(4): Show |
FAM81B | ENSG00000153347.10 | transcript | ENST00000283357.10 | protein_coding | 4/10 | 454/1542 | 430/1359 | 144/452 | chr5 | TogoVar | |||
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0004a0010others(2): Show | a0003c0002a0004c0004a0010c0014others(2): Show | a0003c0002t0001a0004c0004t0001a0010c0014t0001others(2): Show | a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 others(37): Show |
43 | 235 | 0.1830 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 others(107): Show |
114 | 236 | 0.4831 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show |
278 | 365 | 0.7616 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
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 | |||
FLG_chr1_152297165_152330239 | 152307198 | C | T | stop_gained | HIGH | HG01255.hp2 | a0057 | a0057c0143 | a0057c0143t0001 | a0057c0143t0001g0074 | 1 | 424 | 0.0024 | 0 | c.768 others(4): Show |
p.Trp others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 7760/12793 | 7688/12186 | 2563/4061 | chr1 | TogoVar | |||
FMNL2_chr2_152330174_152654826 | 152619552 | G | GCCAC | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show |
a0002a0003a0007 | a0002c0002a0002c0004a0002c0007others(13): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0002 a0002c0002t0001g0021 a0002c0002t0001g0033 others(72): Show |
75 | 76 | 0.9868 | 4 | c.167 others(13): Show |
p.Pro others(5): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 15/26 | 2104/5630 | 1674/3279 | 558/1092 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0002a0007a0009 | a0002c0002a0002c0005a0002c0010others(3): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(5): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(5): Show |
99 | 324 | 0.3056 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0002a0006a0007others(1): Show | a0002c0002a0002c0005a0002c0010others(4): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(6): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(6): Show |
101 | 324 | 0.3117 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | TogoVar | |||
FTMT_chr5_121846882_121857833 | 121852489 | GAATTGCA others(42): Show |
G | frameshift_variant | HIGH | HG01255.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 410 | 0.0024 | -49 | c.527 others(56): Show |
p.Glu others(5): Show |
FTMT | ENSG00000181867.3 | transcript | ENST00000321339.3 | protein_coding | 1/1 | 609/952 | 527/729 | 176/242 | chr5 | TogoVar | |||
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show |
91 | 392 | 0.2321 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | TogoVar | |||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show |
147 | 428 | 0.3435 | 0 | c.487 others(3): Show |
p.Gly others(4): Show |
GAB4 | ENSG00000215568.9 | transcript | ENST00000400588.5 | protein_coding | 3/10 | 595/2630 | 487/1725 | 163/574 | chr22 | TogoVar | |||
GAPVD1_chr9_125256826_125372207 | 125301963 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00621.hp1 HG01081.hp2 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0038 | a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0144 others(27): Show |
30 | 313 | 0.0958 | 2 | c.186 others(13): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0011a0014 | a0002c0002a0011c0011a0014c0017 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0008 a0002c0002t0003g0014 a0002c0002t0003g0015 others(52): Show |
82 | 434 | 0.1889 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show |
84 | 348 | 0.2414 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | |||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0002g0002 others(1): Show |
101 | 443 | 0.2280 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show |
a0001a0006a0015others(8): Show | a0001c0001a0001c0014a0001c0023others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show |
215 | 306 | 0.7026 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0003a0006others(19): Show | a0001c0001a0001c0005a0001c0010others(44): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show |
286 | 393 | 0.7277 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0010others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(82): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show |
390 | 394 | 0.9898 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | |||
GOLGA6L4_chr15_84230773_84250358 | 84240654 | G | T | stop_gained | HIGH | HG01109.hp1 HG01255.hp1 HG01261.hp1 others(9): Show |
a0006a0024a0031others(2): Show | a0006c0014a0006c0024a0006c0025others(4): Show | a0006c0014t0013a0006c0014t0043a0006c0024t0011others(6): Show | a0006c0014t0013g0011 a0006c0014t0043g0011 a0006c0024t0011g0013 others(6): Show |
12 | 250 | 0.0480 | 0 | c.130 others(4): Show |
p.Glu others(4): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1362/4553 | 1300/1725 | 434/574 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535014 | C | A | stop_gained | HIGH | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show |
a0001a0007a0010others(10): Show | a0001c0001a0001c0010a0001c0031others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(47): Show |
94 | 212 | 0.4434 | 0 | c.142 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1511/4013 | 1420/2175 | 474/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535092 | C | A | stop_gained | HIGH | HG01071.hp2 HG01255.hp1 HG01257.hp2 others(7): Show |
a0010a0011a0019 | a0010c0014a0010c0015a0011c0012others(2): Show | a0010c0014t0007a0010c0015t0009a0011c0012t0007others(2): Show | a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 others(3): Show |
10 | 212 | 0.0472 | 0 | c.134 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1433/4013 | 1342/2175 | 448/724 | chr15 | TogoVar | |||
GP6_chr19_55008705_55043264 | 55027621 | G | T | stop_gained | HIGH | HG01255.hp1 | a0015 | a0015c0022 | a0015c0022t0002 | a0015c0022t0002g0399 | 1 | 440 | 0.0023 | 0 | c.567 others(3): Show |
p.Tyr others(4): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/8 | 595/2268 | 567/1863 | 189/620 | chr19 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | |||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 others(47): Show |
125 | 398 | 0.3141 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | 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 | |||
H6PD_chr1_9229774_9276337 | 9244919 | CCCCAGGC others(1): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show |
a0001a0002a0018others(1): Show | a0001c0001a0001c0004a0001c0020others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0005others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0053 others(26): Show |
40 | 402 | 0.0995 | -8 | c.-7_ others(12): Show |
p.Met others(3): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 2/5 | 297/9147 | 1/2376 | 1/791 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show |
a0003 | a0003c0003a0003c0004a0003c0009 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show |
103 | 366 | 0.2814 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | TogoVar | |||
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0002a0003c0003a0005c0008others(21): Show | a0002c0002t0005a0003c0003t0002a0005c0008t0006others(22): Show | a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(53): Show |
131 | 203 | 0.6453 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | |||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0002a0003c0003a0005c0008others(22): Show | a0002c0002t0005a0003c0003t0002a0005c0008t0006others(23): Show | a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(54): Show |
136 | 208 | 0.6538 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | |||
HNRNPA1L2_chr13_52637431_52648773 | 52643320 | GA | G | frameshift_variant | HIGH | HG01255.hp2 HG01256.hp2 HG01361.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 6 | 434 | 0.0138 | -1 | c.830 others(4): Show |
p.Lys others(5): Show |
HNRNPA1L2 | ENSG00000139675.13 | transcript | ENST00000357495.5 | protein_coding | 1/1 | 892/1343 | 830/963 | 277/320 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(158): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0012others(160): Show | a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(169): Show |
381 | 415 | 0.9181 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | |||
IDO2_chr8_39929651_40021392 | 40015416 | T | A | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0003c0003t0003a0003c0003t0010others(14): Show | a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 others(102): Show |
106 | 358 | 0.2961 | 0 | c.103 others(4): Show |
p.Tyr others(4): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 11/11 | 1623/2599 | 1038/1224 | 346/407 | chr8 | TogoVar | |||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show |
194 | 456 | 0.4254 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | |||
IL17RB_chr3_53841568_53870794 | 53865249 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001a0002c0007t0006others(1): Show | a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0005t0001g0028 others(33): Show |
54 | 448 | 0.1205 | 0 | c.145 others(4): Show |
p.Gln others(4): Show |
IL17RB | ENSG00000056736.10 | transcript | ENST00000288167.8 | protein_coding | 11/11 | 1471/2016 | 1450/1509 | 484/502 | chr3 | TogoVar | |||
IRS2_chr13_109747695_109791583 | 109782805 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp2 HG00741.hp1 others(24): Show |
a0003a0004 | a0003c0008a0003c0010a0003c0012others(2): Show | a0003c0008t0002a0003c0008t0004a0003c0008t0009others(11): Show | a0003c0008t0002g0129 a0003c0008t0002g0130 a0003c0008t0002g0132 others(24): Show |
27 | 396 | 0.0682 | 1 | c.324 others(5): Show |
p.Pro others(6): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/2 | 3778/8156 | 3248/4017 | 1083/1338 | chr13 | TogoVar | |||
KLRC2_chr12_10425599_10441010 | 10429008 | GTGATGCC others(11995): Show |
G | transcript_ablation | HIGH | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 63 | 219 | 0.2877 | -12002 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
281 | 411 | 0.6837 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |