regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RGR_chr10_84240053_84264960 | 84257891 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA19082.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 426 | 0.0024 | 0 | c.631 others(5): Show |
RGR | ENSG00000148604.15 | transcript | ENST00000652092.2 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
RPL28_chr19_55380932_55397085 | 55388029 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(14): Show | a0000c0002t0001g0001a0000c0002t0001g0020a0000c0002t0002g0001others(17): Show | 55 | 314 | 0.1752 | 1 | c.307 others(4): Show |
p.Arg others(5): Show |
RPL28 | ENSG00000108107.15 | transcript | ENST00000344063.7 | protein_coding | 4/5 | 350/4209 | 308/414 | 103/137 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
SERHL2_chr22_42548956_42579382 | 42566324 | C | T | stop_gained | HIGH | NA19082.hp2 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0343 | 1 | 432 | 0.0023 | 0 | c.634 others(3): Show |
p.Gln others(4): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 9/12 | 699/1337 | 634/945 | 212/314 | chr22 | TogoVar | ||
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0005others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0014others(79): Show | 204 | 422 | 0.4834 | 0 | c.268 others(3): Show |
p.Glu others(3): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4/8 | 330/1735 | 268/1179 | 90/392 | chr18 | TogoVar | ||
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | ||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0005others(95): Show | 163 | 402 | 0.4055 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | ||
SLC22A14_chr3_38277294_38323575 | 38307252 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00621.hp1 HG00735.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0199others(35): Show | 45 | 406 | 0.1108 | 0 | c.517 others(5): Show |
SLC22A14 | ENSG00000144671.11 | transcript | ENST00000448498.6 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
SLC25A36_chr3_140936836_140985995 | 140956506 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00738.hp1 HG01243.hp1 HG02559.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0016a0001c0001t0022others(6): Show | a0001c0001t0008g0001a0001c0001t0008g0231a0001c0001t0008g0232others(11): Show | 17 | 270 | 0.0630 | 1 | c.42- others(5): Show |
SLC25A36 | ENSG00000114120.14 | transcript | ENST00000324194.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC7A13_chr8_86209063_86235381 | 86214405 | TCCGACAT others(1): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show |
a0000 | a0000c0002a0000c0015a0000c0024 | a0000c0002t0002a0000c0015t0002a0000c0024t0002 | a0000c0002t0002g0002a0000c0002t0002g0008a0000c0002t0002g0012others(18): Show | 95 | 428 | 0.2220 | -8 | c.141 others(15): Show |
p.Ter others(5): Show |
SLC7A13 | ENSG00000164893.9 | transcript | ENST00000297524.8 | protein_coding | 4/4 | 1524/1867 | 1413/1413 | 471/470 | chr8 | TogoVar | ||
SLCO1A2_chr12_21259600_21339917 | 21314548 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18981.hp1 NA19007.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0251 | 3 | 310 | 0.0097 | 0 | c.335 others(5): Show |
SLCO1A2 | ENSG00000084453.17 | transcript | ENST00000683939.1 | protein_coding | 4/14 | chr12 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 140 | 294 | 0.4762 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
SPDYE2_chr7_102546226_102568538 | 102551289 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00609.hp2 HG01070.hp1 HG01515.hp2 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(11): Show | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(24): Show | 27 | 164 | 0.1646 | 0 | c.-42 others(6): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
SPSB2_chr12_6865935_6878303 | 6872998 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0016others(7): Show | 77 | 398 | 0.1935 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
SRPX2_chrX_100639199_100680788 | 100665250 | T | TC | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0182 | 1 | 318 | 0.0031 | 1 | c.546 others(4): Show |
p.Lys others(5): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 6/11 | 994/6646 | 547/1398 | 183/465 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SRPX2_chrX_100639199_100680788 | 100665572 | TC | T | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0182 | 1 | 318 | 0.0031 | -1 | c.699 others(4): Show |
p.Glu others(5): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 7/11 | 1146/6646 | 699/1398 | 233/465 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SRPX2_chrX_100639199_100680788 | 100665599 | C | CA | frameshift_variant | HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0182 | 1 | 318 | 0.0031 | 1 | c.724 others(4): Show |
p.Thr others(5): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 7/11 | 1172/6646 | 725/1398 | 242/465 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
STAG2_chrX_123956706_124107656 | 124061743 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00735.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(18): Show | 21 | 276 | 0.0761 | 2 | c.153 others(15): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002a0011 | a0002c0002a0002c0006a0011c0007 | a0002c0002t0000a0002c0006t0000a0011c0007t0000 | a0002c0002t0000g0000a0002c0006t0000g0000a0011c0007t0000g0000 | 150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar | ||
TAF4_chr20_61969798_62070881 | 62064985 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00741.hp1 HG01192.hp1 others(8): Show |
a0003a0016a0017 | a0003c0007a0003c0020a0003c0036others(2): Show | a0003c0007t0001a0003c0020t0001a0003c0036t0001others(2): Show | a0003c0007t0001g0011a0003c0007t0001g0012a0003c0007t0001g0014others(8): Show | 11 | 314 | 0.0350 | 1 | c.825 others(4): Show |
p.Ala others(5): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/15 | 896/4699 | 825/3258 | 275/1085 | chr20 | TogoVar | ||
TAMALIN_chr12_52001946_52020889 | 52014908 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(32): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0013 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(15): Show | 35 | 380 | 0.0921 | 1 | c.902 others(4): Show |
p.Pro others(5): Show |
TAMALIN | ENSG00000161835.11 | transcript | ENST00000293662.9 | protein_coding | 8/8 | 977/1952 | 903/1188 | 301/395 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223a0001c0001t0002g0271a0001c0001t0002g0301others(115): Show | 118 | 318 | 0.3711 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TBKBP1_chr17_47689161_47717052 | 47709026 | G | GC | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0002a0003a0007others(6): Show | a0002c0005a0002c0011a0002c0023others(10): Show | a0002c0005t0001a0002c0005t0005a0002c0011t0001others(12): Show | a0002c0005t0001g0003a0002c0005t0001g0007a0002c0005t0001g0022others(36): Show | 40 | 386 | 0.1036 | 1 | c.129 others(5): Show |
p.Pro others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1367/3342 | 1299/1848 | 433/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
TDRD12_chr19_32714767_32834580 | 32826678 | AAC | A | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show |
a0002a0003a0005others(6): Show | a0002c0003a0002c0010a0003c0002others(7): Show | a0002c0003t0001a0002c0003t0011a0002c0003t0033others(20): Show | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0174others(110): Show | 115 | 380 | 0.3026 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(44): Show | 165 | 303 | 0.5446 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TLR8 | ENSG00000101916.12 | transcript | ENST00000218032.7 | protein_coding | 1/2 | 88/4216 | 1/3126 | 1/1041 | chrX | TogoVar | ||
TMEM97_chr17_28314200_28333685 | 28319240 | A | G | start_lost | HIGH | NA18963.hp1 NA19082.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 2 | 374 | 0.0054 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TMEM97 | ENSG00000109084.14 | transcript | ENST00000226230.8 | protein_coding | 1/3 | 41/2463 | 1/531 | 1/176 | chr17 | TogoVar | ||
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0015a0002c0018others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0005others(79): Show | 100 | 394 | 0.2538 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
TMPRSS11A | ENSG00000187054.16 | transcript | ENST00000508048.6 | protein_coding | 1/10 | 103/3304 | 3/1257 | 1/418 | chr4 | TogoVar | ||
TRIM48_chr11_55257155_55276114 | 55264123 | AATTACAC others(6934): Show |
A | exon_loss_variant | HIGH | NA18941.hp1 NA18943.hp2 NA18963.hp2 others(6): Show |
a0000 | a0000c0004 | a0000c0004t0005a0000c0004t0006 | a0000c0004t0005g0007a0000c0004t0006g0007 | 9 | 272 | 0.0331 | -6941 | c.45- others(11): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(74): Show | 274 | 424 | 0.6462 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0012a0013 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005a0002c0002t0002g0007a0002c0002t0002g0009others(58): Show | 139 | 424 | 0.3278 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | ||
TRO_chrX_54915824_54936431 | 54924497 | G | GGATC | frameshift_variant | HIGH | NA19082.hp1 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0001 | 1 | 310 | 0.0032 | 4 | c.128 others(13): Show |
p.Pro others(5): Show |
TRO | ENSG00000067445.22 | transcript | ENST00000173898.12 | protein_coding | 4/13 | 1387/4634 | 1288/4296 | 430/1431 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ULBP3_chr6_150056053_150074121 | 150069013 | G | C | stop_gained | HIGH | HG00099.hp1 HG01934.hp2 HG01943.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0030a0003c0003t0057 | a0003c0003t0006g0013a0003c0003t0006g0038a0003c0003t0006g0117others(3): Show | 13 | 458 | 0.0284 | 0 | c.54C others(2): Show |
p.Tyr others(3): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 1/5 | 109/3111 | 54/735 | 18/244 | chr6 | TogoVar | ||
UNKL_chr16_1358205_1419704 | 1397263 | TCCCCGTG others(428): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00621.hp1 NA18982.hp1 NA19082.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0117a0002c0002t0001g0130a0002c0002t0008g0144 | 3 | 322 | 0.0093 | -435 | c.735 others(11): Show |
p.Ser others(5): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 6/15 | 779/5250 | 735/2202 | 245/733 | chr16 | TogoVar | ||
USP17L19_chr4_9248378_9259970 | 9253398 | C | G | stop_gained | HIGH | HG00735.hp1 HG01074.hp2 HG01257.hp2 others(5): Show |
a0007 | a0007c0011a0007c0075a0007c0076others(1): Show | a0007c0011t0000a0007c0075t0000a0007c0076t0000others(1): Show | a0007c0011t0000g0000a0007c0075t0000g0000a0007c0076t0000g0000others(1): Show | 8 | 206 | 0.0388 | 0 | c.21C others(2): Show |
p.Tyr others(2): Show |
USP17L19 | ENSG00000248920.3 | transcript | ENST00000515566.1 | protein_coding | 1/1 | 21/1593 | 21/1593 | 7/530 | chr4 | TogoVar | ||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(223): Show | 407 | 416 | 0.9784 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | ||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(234): Show | 239 | 358 | 0.6676 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 3/10 | 125/4616 | 2/1284 | 1/427 | chr12 | TogoVar | ||
VSIG10L_chr19_51326541_51347139 | 51332638 | T | TG | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0003others(24): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0006others(40): Show | a0000c0001t0001g0004a0000c0001t0001g0012a0000c0001t0001g0014others(104): Show | 451 | 452 | 0.9978 | 1 | c.257 others(5): Show |
p.Gln others(5): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 10/10 | 2591/3689 | 2576/2604 | 859/867 | chr19 | TogoVar | ||
WHAMM_chr15_82804628_82841108 | 82830910 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG01175.hp2 HG01928.hp1 others(8): Show |
a0006a0010 | a0006c0006a0006c0007a0010c0010 | a0006c0006t0004a0006c0006t0005a0006c0006t0013others(6): Show | a0006c0006t0004g0207a0006c0006t0005g0014a0006c0006t0013g0327others(8): Show | 11 | 432 | 0.0255 | 1 | c.195 others(5): Show |
p.Pro others(5): Show |
WHAMM | ENSG00000156232.7 | transcript | ENST00000286760.5 | protein_coding | 9/10 | 2055/5101 | 1956/2430 | 652/809 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
XPNPEP2_chrX_129733979_129774536 | 129756526 | G | GTA | frameshift_variant | HIGH | NA19082.hp1 | a0022 | a0022c0016 | a0022c0016t0001 | a0022c0016t0001g0117 | 1 | 310 | 0.0032 | 2 | c.133 others(11): Show |
p.Leu others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 14/21 | 1576/3311 | 1341/2025 | 447/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZC2HC1A_chr8_78661089_78724765 | 78686431 | G | GTTTA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0009 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0009others(36): Show | 56 | 262 | 0.2137 | 4 | c.211 others(15): Show |
ZC2HC1A | ENSG00000104427.13 | transcript | ENST00000263849.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ZNF331_chr19_53533145_53585269 | 53569386 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 416 | 0.0024 | 0 | c.9+1 others(3): Show |
ZNF331 | ENSG00000130844.19 | transcript | ENST00000449416.6 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0000a0004 | a0000c0001a0000c0004a0000c0005others(9): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0003others(50): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0014others(254): Show | 294 | 378 | 0.7778 | -167 | c.138 others(9): Show |
p.Cys others(5): Show |
ZNF626 | ENSG00000188171.17 | transcript | ENST00000601440.6 | protein_coding | 4/4 | 1674/6063 | 1383/1587 | 461/528 | chr19 | TogoVar | ||
ZNF865_chr19_55600647_55622269 | 55614540 | G | GC | frameshift_variant | HIGH | HG00544.hp2 HG00738.hp2 HG01123.hp1 others(16): Show |
a0002a0005a0012 | a0002c0005a0002c0009a0002c0018others(2): Show | a0002c0005t0001a0002c0005t0003a0002c0009t0001others(5): Show | a0002c0005t0001g0001a0002c0005t0001g0016a0002c0005t0001g0017others(10): Show | 19 | 430 | 0.0442 | 1 | c.927 others(4): Show |
p.Ser others(5): Show |
ZNF865 | ENSG00000261221.5 | transcript | ENST00000568956.2 | protein_coding | 2/2 | 1040/3763 | 928/3180 | 310/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNG1C_chr9_68236983_68305035 | 68256920 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(284): Show | 295 | 322 | 0.9162 | 0 | c.431 others(5): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 4/14 | chr9 | TogoVar | ||||||
ZSWIM1_chr20_45876227_45890266 | 45882618 | G | A | stop_gained | HIGH | HG01433.hp2 HG02040.hp1 HG02698.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0014a0003c0005t0075 | a0003c0005t0014g0003a0003c0005t0075g0003 | 5 | 404 | 0.0124 | 0 | c.26G others(2): Show |
p.Trp others(2): Show |
ZSWIM1 | ENSG00000168612.5 | transcript | ENST00000372523.1 | protein_coding | 2/2 | 121/2769 | 26/1458 | 9/485 | chr20 | TogoVar |