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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH2D1A_chrX_124341563_124378160 | 124370262 | A | AC | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0222 | 1 | 318 | 0.0031 | 1 | c.290 others(4): Show |
p.Leu others(4): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 3/4 | 371/2236 | 291/387 | 97/128 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
SIGLEC5_chr19_51605960_51635401 | 51629415 | TCTGACAG others(5979): Show |
T | exon_loss_variant | HIGH | HG00609.hp2 HG02080.hp1 HG02129.hp2 others(7): Show |
a0009a0012a0018 | a0009c0016a0009c0029a0009c0031others(2): Show | a0009c0016t0003a0009c0029t0003a0009c0031t0003others(3): Show | a0009c0016t0003g0019a0009c0016t0003g0050a0009c0016t0003g0052others(6): Show | 10 | 414 | 0.0242 | -5986 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | 708/2993 | chr19 | TogoVar | |||||
SLC22A14_chr3_38277294_38323575 | 38306197 | TGCGGTGG others(9): Show |
T | frameshift_variant | HIGH | NA18997.hp1 | a0023 | a0023c0025 | a0023c0025t0001 | a0023c0025t0001g0288 | 1 | 406 | 0.0025 | -16 | c.174 others(23): Show |
p.Val others(4): Show |
SLC22A14 | ENSG00000144671.11 | transcript | ENST00000448498.6 | protein_coding | 2/11 | 220/2157 | 174/1785 | 58/594 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | ||
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(157): Show | 181 | 456 | 0.3969 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | TogoVar | ||
SNX27_chr1_151607050_151704080 | 151692406 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0136a0001c0001t0003g0099a0001c0001t0003g0141others(65): Show | 70 | 366 | 0.1913 | 2 | c.124 others(15): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151693022 | A | T | stop_gained | HIGH | NA18997.hp1 | a0003 | a0003c0005 | a0003c0005t0018 | a0003c0005t0018g0325 | 1 | 366 | 0.0027 | 0 | c.150 others(4): Show |
p.Lys others(4): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 10/12 | 1653/6441 | 1501/1626 | 501/541 | chr1 | TogoVar | ||
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0012others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0017others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(50): Show | 131 | 460 | 0.2848 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
SRPK3_chrX_153776041_153790730 | 153784028 | A | AC | frameshift_variant | HIGH | NA18997.hp2 | a0013 | a0013c0018 | a0013c0018t0002 | a0013c0018t0002g0022 | 1 | 307 | 0.0033 | 1 | c.966 others(4): Show |
p.Gly others(5): Show |
SRPK3 | ENSG00000184343.11 | transcript | ENST00000370101.8 | protein_coding | 10/15 | 1013/1960 | 967/1704 | 323/567 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SRPK3_chrX_153776041_153790730 | 153784823 | G | GC | frameshift_variant | HIGH | HG01192.hp1 NA18997.hp1 NA19083.hp1 |
a0003a0010 | a0003c0020a0003c0022a0010c0015 | a0003c0020t0002a0003c0022t0001a0010c0015t0002 | a0003c0020t0002g0002a0003c0022t0001g0005a0010c0015t0002g0018 | 3 | 307 | 0.0098 | 1 | c.132 others(5): Show |
p.Ala others(5): Show |
SRPK3 | ENSG00000184343.11 | transcript | ENST00000370101.8 | protein_coding | 12/15 | 1375/1960 | 1329/1704 | 443/567 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SRSF3_chr6_36589362_36610600 | 36601940 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG01074.hp1 HG01516.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0024others(2): Show | a0001c0001t0002g0137a0001c0001t0002g0187a0001c0001t0002g0195others(5): Show | 8 | 382 | 0.0209 | 2 | c.468 others(13): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SURF2_chr9_133351550_133366158 | 133357790 | C | CG | frameshift_variant | HIGH | HG00741.hp1 HG01106.hp2 HG01496.hp1 others(12): Show |
a0003a0007 | a0003c0003a0003c0008a0007c0014 | a0003c0003t0001a0003c0008t0001a0007c0014t0001 | a0003c0003t0001g0001a0003c0003t0001g0004a0003c0003t0001g0043others(2): Show | 15 | 448 | 0.0335 | 1 | c.315 others(4): Show |
p.Tyr others(5): Show |
SURF2 | ENSG00000148291.10 | transcript | ENST00000371964.5 | protein_coding | 3/6 | 359/833 | 316/771 | 106/256 | INFO_REALIGN_3_PRIME | chr9 | 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 | |
TCHHL1_chr1_152079141_152094064 | 152085716 | G | A | stop_gained | HIGH | HG00642.hp2 HG01167.hp1 HG01169.hp1 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 29 | 376 | 0.0771 | 0 | c.196 others(4): Show |
p.Gln others(4): Show |
TCHHL1 | ENSG00000182898.4 | transcript | ENST00000368806.2 | protein_coding | 3/3 | 2031/3606 | 1966/2715 | 656/904 | chr1 | TogoVar | ||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(31): Show | 193 | 436 | 0.4427 | -1 | c.103 others(5): Show |
p.Glu others(5): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 1294/3493 | 1032/1566 | 344/521 | chr5 | TogoVar | ||
TIMM8A_chrX_101340661_101353742 | 101346626 | T | TC | frameshift_variant | HIGH | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0013 | 1 | 313 | 0.0032 | 1 | c.166 others(4): Show |
p.Asp others(4): Show |
TIMM8A | ENSG00000126953.8 | transcript | ENST00000372902.4 | protein_coding | 2/2 | 244/1210 | 166/294 | 56/97 | chrX | TogoVar | ||
TMPRSS6_chr22_37060436_37114713 | 37069345 | CTGGGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0001c0009others(21): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0001others(22): Show | a0001c0005t0001g0082a0001c0005t0001g0120a0001c0005t0001g0121others(118): Show | 125 | 348 | 0.3592 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
TMX3_chr18_68668688_68720108 | 68676960 | CTTGGGCT others(3): Show |
C | frameshift_variant | HIGH | NA18997.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0109 | 1 | 318 | 0.0031 | -10 | c.132 others(19): Show |
p.Gln others(5): Show |
TMX3 | ENSG00000166479.10 | transcript | ENST00000299608.7 | protein_coding | 16/16 | 1464/4737 | 1328/1365 | 443/454 | chr18 | TogoVar | ||
TRAPPC8_chr18_31824197_31948128 | 31857984 | T | A | splice_acceptor_variant others(1): Show |
HIGH | NA18997.hp1 | a0009 | a0009c0018 | a0009c0018t0002 | a0009c0018t0002g0061 | 1 | 350 | 0.0029 | 0 | c.274 others(6): Show |
TRAPPC8 | ENSG00000153339.15 | transcript | ENST00000283351.10 | protein_coding | 19/28 | chr18 | TogoVar | ||||||
UGT2B10_chr4_68810994_68837023 | 68822269 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0023a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(19): Show | 63 | 461 | 0.1367 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
USP6_chr17_5111032_5179991 | 5161526 | A | T | splice_acceptor_variant others(1): Show |
HIGH | NA18997.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0254 | 1 | 362 | 0.0028 | 0 | c.282 others(6): Show |
USP6 | ENSG00000129204.17 | transcript | ENST00000574788.6 | protein_coding | 31/37 | chr17 | 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 | ||
WDR11_chr10_120846362_120914524 | 120904673 | G | T | stop_gained | HIGH | NA18997.hp2 | a0004 | a0004c0022 | a0004c0022t0001 | a0004c0022t0001g0271 | 1 | 386 | 0.0026 | 0 | c.305 others(4): Show |
p.Glu others(5): Show |
WDR11 | ENSG00000120008.16 | transcript | ENST00000263461.11 | protein_coding | 25/29 | 3114/4545 | 3055/3675 | 1019/1224 | chr10 | TogoVar | ||
YBX1_chr1_42677418_42708805 | 42700882 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG00741.hp2 HG01243.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004 | a0002c0002t0001g0022a0002c0002t0001g0023a0002c0002t0001g0049others(4): Show | 7 | 402 | 0.0174 | 1 | c.844 others(4): Show |
p.Arg others(5): Show |
YBX1 | ENSG00000065978.19 | transcript | ENST00000321358.12 | protein_coding | 7/8 | 993/2979 | 845/975 | 282/324 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
YBX2_chr17_7283263_7299639 | 7291080 | GCAGTCCC others(8): Show |
G | splice_donor_variant others(3): Show |
HIGH | NA18997.hp2 | a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0065 | 1 | 440 | 0.0023 | -15 | c.457 others(25): Show |
p.Lys others(6): Show |
YBX2 | ENSG00000006047.13 | transcript | ENST00000007699.10 | protein_coding | 4/9 | 457/1095 | 153/364 | chr17 | TogoVar | |||
ZDHHC11B_chr5_705355_789729 | 766918 | A | C | start_lost others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0021 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(86): Show | a0001c0001t0001g0003a0001c0001t0001g0062a0001c0001t0001g0063others(207): Show | 215 | 271 | 0.7934 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 4/14 | 293/3342 | 2/1116 | 1/371 | chr5 | TogoVar | ||
ZDHHC5_chr11_57663114_57706182 | 57688519 | G | T | stop_gained | HIGH | NA18997.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0194 | 1 | 324 | 0.0031 | 0 | c.238 others(3): Show |
p.Glu others(3): Show |
ZDHHC5 | ENSG00000156599.11 | transcript | ENST00000287169.8 | protein_coding | 4/12 | 1382/4443 | 238/2148 | 80/715 | chr11 | TogoVar | ||
ZDHHC5_chr11_57663114_57706182 | 57688525 | A | T | stop_gained | HIGH | NA18997.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0194 | 1 | 324 | 0.0031 | 0 | c.244 others(3): Show |
p.Lys others(3): Show |
ZDHHC5 | ENSG00000156599.11 | transcript | ENST00000287169.8 | protein_coding | 4/12 | 1388/4443 | 244/2148 | 82/715 | chr11 | TogoVar | ||
ZDHHC5_chr11_57663114_57706182 | 57688540 | C | T | stop_gained | HIGH | NA18997.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0194 | 1 | 324 | 0.0031 | 0 | c.259 others(3): Show |
p.Arg others(3): Show |
ZDHHC5 | ENSG00000156599.11 | transcript | ENST00000287169.8 | protein_coding | 4/12 | 1403/4443 | 259/2148 | 87/715 | chr11 | TogoVar | ||
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0016a0002c0017others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(8): Show | a0002c0002t0003g0002a0002c0002t0003g0007a0002c0002t0003g0011others(23): Show | 118 | 382 | 0.3089 | 5 | c.118 others(12): Show |
p.Arg others(4): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/11 | 624/2775 | 123/1416 | 41/471 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(233): Show | 379 | 444 | 0.8536 | 0 | c.128 others(4): Show |
p.Arg others(4): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 4/4 | 2567/9084 | 1282/1452 | 428/483 | chr7 | TogoVar | ||
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(137): Show |
a0000 | a0000c0003a0000c0004a0000c0005others(2): Show | a0000c0003t0001a0000c0004t0001a0000c0005t0001others(2): Show | a0000c0003t0001g0002a0000c0003t0001g0005a0000c0003t0001g0008others(90): Show | 140 | 408 | 0.3431 | -1 | c.198 others(5): Show |
p.Leu others(5): Show |
ZNF233 | ENSG00000159915.13 | transcript | ENST00000683810.1 | protein_coding | 5/5 | 2083/2757 | 1983/2013 | 661/670 | chr19 | TogoVar | ||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0000 | a0000c0002a0000c0005a0000c0008others(4): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0006others(7): Show | a0000c0002t0002g0002a0000c0002t0002g0017a0000c0002t0002g0025others(33): Show | 109 | 410 | 0.2659 | 0 | c.201 others(4): Show |
p.Ter others(11): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 2122/2573 | 2015/2016 | 672/671 | chr19 | TogoVar | ||
ZP4_chr1_237877404_237895922 | 237885810 | G | GGTAATGG others(6): Show |
frameshift_variant | HIGH | NA18997.hp1 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0175 | 1 | 448 | 0.0022 | 13 | c.915 others(20): Show |
p.Pro others(5): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 7/12 | 1202/1928 | 915/1623 | 305/540 | chr1 | TogoVar |