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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
SPATA16_chr3_172884357_173146235 | 172889572 | A | G | stop_lost | HIGH | HG02622.hp2 HG03471.hp2 |
a0000 | a0000c0011a0000c0018 | a0000c0011t0001a0000c0018t0001 | a0000c0011t0001g0010a0000c0018t0001g0179 | 2 | 200 | 0.0100 | 0 | c.170 others(4): Show |
p.Ter others(11): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 11/11 | 1859/2074 | 1708/1710 | 570/569 | chr3 | TogoVar | ||
SPATA22_chr17_3435019_3476819 | 3471678 | GCA | G | splice_donor_variant others(2): Show |
HIGH | HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0018others(39): Show | 49 | 420 | 0.1167 | -2 | c.-74 others(13): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
SPATA31D3_chr9_81938500_81955093 | 81946547 | C | CCAGGATC others(15059): Show |
stop_gained others(1): Show |
HIGH | HG02622.hp1 | a0020 | a0020c0045 | a0020c0045t0002 | a0020c0045t0002g0054 | 1 | 380 | 0.0026 | 15066 | c.264 others(15075): Show |
p.His others(15079): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 4/4 | 2730/4926 | 2644/2754 | 882/917 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
SPATC1L_chr21_46156160_46189459 | 46183498 | CAGGGGAG others(309): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0006a0001c0001t0008a0001c0003t0005others(5): Show | a0001c0001t0006g0010a0001c0001t0006g0035a0001c0001t0006g0064others(26): Show | 32 | 251 | 0.1275 | -316 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 683 | chr21 | 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 | |||||
SULT1A2_chr16_28586943_28602050 | 28593494 | G | GT | frameshift_variant others(1): Show |
HIGH | HG02258.hp1 HG02622.hp2 HG02922.hp2 others(2): Show |
a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0018 | 5 | 418 | 0.0120 | 1 | c.446 others(4): Show |
p.Tyr others(5): Show |
SULT1A2 | ENSG00000197165.11 | transcript | ENST00000335715.9 | protein_coding | 5/8 | 504/1031 | 446/888 | 149/295 | chr16 | TogoVar | ||
SUMO4_chr6_149395262_149406278 | 149400392 | A | G | start_lost | HIGH | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0000 | 7 | 418 | 0.0168 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SUMO4 | ENSG00000177688.7 | transcript | ENST00000326669.6 | protein_coding | 1/1 | 131/1017 | 1/288 | 1/95 | chr6 | TogoVar | ||
SYNE2_chr14_63848004_64231433 | 64093374 | G | A | stop_gained | HIGH | HG00423.hp1 HG00741.hp1 HG01496.hp2 others(25): Show |
a0003a0008a0012others(10): Show | a0003c0002a0003c0015a0003c0034others(16): Show | a0003c0002t0001a0003c0002t0006a0003c0002t0011others(18): Show | a0003c0002t0001g0005a0003c0002t0001g0006a0003c0002t0001g0010others(25): Show | 28 | 150 | 0.1867 | 0 | c.120 others(5): Show |
p.Trp others(5): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 61/116 | 12193/21822 | 12002/20724 | 4001/6907 | chr14 | TogoVar | ||
TAAR9_chr6_132533277_132544336 | 132538470 | A | T | stop_gained | HIGH | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(71): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000a0002c0006t0001g0000 | 74 | 430 | 0.1721 | 0 | c.181 others(3): Show |
p.Lys others(3): Show |
TAAR9 | ENSG00000237110.3 | transcript | ENST00000434551.3 | protein_coding | 1/1 | 194/1060 | 181/1047 | 61/348 | chr6 | 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 | ||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(64): Show |
a0002a0007a0010 | a0002c0002a0007c0010a0010c0009 | a0002c0002t0000a0007c0010t0000a0010c0009t0000 | a0002c0002t0000g0000a0007c0010t0000g0000a0010c0009t0000g0000 | 67 | 295 | 0.2271 | 0 | c.749 others(3): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 749/930 | 749/930 | 250/309 | chr12 | TogoVar | ||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(270): Show | 274 | 310 | 0.8839 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0162others(85): Show | 89 | 322 | 0.2764 | 0 | c.283 others(6): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 19/21 | chr8 | TogoVar | ||||||
THEG_chr19_356747_381026 | 373531 | C | T | stop_gained others(1): Show |
HIGH | HG02145.hp2 HG02622.hp1 HG02818.hp1 others(9): Show |
a0004 | a0004c0007a0004c0015a0004c0016others(2): Show | a0004c0007t0012a0004c0007t0015a0004c0007t0028others(7): Show | a0004c0007t0012g0138a0004c0007t0012g0140a0004c0007t0015g0022others(9): Show | 12 | 370 | 0.0324 | 0 | c.504 others(3): Show |
p.Trp others(4): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 4/8 | 560/1649 | 504/1140 | 168/379 | chr19 | 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 | ||
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 | ||
TMEM212_chr3_171838349_171864318 | 171857828 | TCAAAACC others(903): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0104 | 1 | 436 | 0.0023 | -910 | c.*4- others(11): Show |
TMEM212 | ENSG00000186329.9 | transcript | ENST00000334567.9 | protein_coding | 5/5 | 1125 | chr3 | TogoVar | |||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGGTG others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01099.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0022 | a0001c0007a0001c0017a0001c0020others(2): Show | a0001c0007t0001a0001c0017t0001a0001c0020t0001others(3): Show | a0001c0007t0001g0021a0001c0007t0001g0096a0001c0007t0001g0160others(9): Show | 12 | 348 | 0.0345 | 10 | c.184 others(24): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGGTG others(8): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp2 HG02109.hp1 HG02572.hp1 others(9): Show |
a0001a0005a0014 | a0001c0007a0001c0017a0001c0020others(3): Show | a0001c0007t0001a0001c0017t0001a0001c0020t0001others(3): Show | a0001c0007t0001g0022a0001c0007t0001g0064a0001c0007t0001g0070others(8): Show | 12 | 348 | 0.0345 | 15 | c.184 others(29): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
TNFAIP8_chr5_119351019_119404688 | 119392800 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00741.hp2 HG01496.hp2 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0015a0001c0002t0018others(22): Show | a0001c0002t0007g0211a0001c0002t0007g0215a0001c0002t0007g0220others(37): Show | 42 | 384 | 0.1094 | 1 | c.32- others(5): Show |
TNFAIP8 | ENSG00000145779.8 | transcript | ENST00000504771.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0013a0016others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0131a0002c0004t0001g0256a0002c0004t0001g0279others(50): Show | 53 | 372 | 0.1425 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar | ||
TNRC18_chr7_5301811_5428834 | 5388813 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00544.hp2 HG01109.hp1 others(19): Show |
a0003a0034a0036others(1): Show | a0003c0017a0003c0041a0003c0044others(18): Show | a0003c0017t0002a0003c0017t0007a0003c0041t0007others(19): Show | a0003c0017t0002g0020a0003c0017t0007g0129a0003c0041t0007g0164others(19): Show | 22 | 306 | 0.0719 | 1 | c.101 others(5): Show |
p.Pro others(5): Show |
TNRC18 | ENSG00000182095.15 | transcript | ENST00000430969.6 | protein_coding | 5/30 | 1647/10839 | 1010/8907 | 337/2968 | chr7 | TogoVar | ||
TPCN2_chr11_69043932_69095597 | 69054065 | C | T | stop_gained | HIGH | HG02622.hp1 | a0014 | a0014c0038 | a0014c0038t0009 | a0014c0038t0009g0212 | 1 | 404 | 0.0025 | 0 | c.142 others(3): Show |
p.Gln others(3): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 2/25 | 208/4969 | 142/2259 | 48/752 | chr11 | TogoVar | ||
TPGS1_chr19_502497_524654 | 519258 | G | GC | frameshift_variant | HIGH | HG00735.hp2 HG01978.hp1 HG02074.hp1 others(12): Show |
a0000 | a0000c0003a0000c0006a0000c0016 | a0000c0003t0001a0000c0003t0002a0000c0003t0004others(3): Show | a0000c0003t0001g0001a0000c0003t0001g0004a0000c0003t0001g0019others(12): Show | 15 | 344 | 0.0436 | 1 | c.711 others(4): Show |
p.Ala others(5): Show |
TPGS1 | ENSG00000141933.9 | transcript | ENST00000359315.6 | protein_coding | 2/2 | 722/1114 | 712/873 | 238/290 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
TPST2_chr22_26516996_26595132 | 26541248 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(23): Show |
a0002 | a0002c0002a0002c0011a0002c0012others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(12): Show | a0002c0002t0001g0012a0002c0002t0001g0026a0002c0002t0001g0092others(23): Show | 26 | 400 | 0.0650 | 1 | c.382 others(4): Show |
p.Val others(5): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 3/7 | 622/5653 | 382/1134 | 128/377 | chr22 | TogoVar | ||
TRIM22_chr11_5684790_5715863 | 5698547 | T | C | splice_donor_variant others(1): Show |
HIGH | HG02615.hp1 HG02622.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0002a0001c0010t0006g0301a0001c0010t0006g0302 | 6 | 480 | 0.0125 | 0 | c.750 others(5): Show |
TRIM22 | ENSG00000132274.17 | transcript | ENST00000379965.8 | protein_coding | 4/7 | 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 | ||||||
TTC24_chr1_156574723_156592719 | 156583439 | GC | G | frameshift_variant | HIGH | HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show |
a0003a0009a0010 | a0003c0004a0009c0010a0010c0011 | a0003c0004t0001a0003c0004t0006a0003c0004t0012others(2): Show | a0003c0004t0001g0006a0003c0004t0001g0017a0003c0004t0001g0024others(9): Show | 26 | 442 | 0.0588 | -1 | c.114 others(5): Show |
p.Gln others(5): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 5/11 | 1184/2958 | 1144/1749 | 382/582 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0006others(31): Show | 177 | 428 | 0.4136 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(209): Show | 212 | 286 | 0.7413 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | ||
UGGT2_chr13_95796580_96058401 | 95970129 | G | A | stop_gained | HIGH | HG02622.hp2 | a0014 | a0014c0034 | a0014c0034t0001 | a0014c0034t0001g0177 | 1 | 332 | 0.0030 | 0 | c.131 others(4): Show |
p.Arg others(4): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 12/39 | 1407/4850 | 1318/4551 | 440/1516 | chr13 | 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 | ||||||
UNC13C_chr15_53973441_54633605 | 54338354 | T | TTGTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0044a0001c0001t0002g0102a0001c0001t0007g0016others(42): Show | 45 | 158 | 0.2848 | 4 | c.458 others(17): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 16/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
USP17L1_chr8_7327387_7338979 | 7332253 | TTGGTGGG others(4721): Show |
T | transcript_ablation | HIGH | HG00408.hp2 HG00741.hp1 HG02451.hp2 others(13): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 16 | 416 | 0.0385 | -4728 | c.-13 others(10): Show |
p.0? | USP17L1 | ENSG00000230549.3 | transcript | ENST00000529559.1 | protein_coding | 1/1 | chr8 | 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 | ||
UTS2B_chr3_191262168_191335526 | 191282108 | C | A | stop_gained | HIGH | HG02622.hp1 | a0007 | a0007c0008 | a0007c0008t0034 | a0007c0008t0034g0220 | 1 | 402 | 0.0025 | 0 | c.82G others(2): Show |
p.Gly others(3): Show |
UTS2B | ENSG00000188958.10 | transcript | ENST00000340524.10 | protein_coding | 5/9 | 859/2385 | 82/360 | 28/119 | chr3 | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0000a0001a0003others(40): Show | a0000c0083a0001c0001a0001c0088others(48): Show | a0000c0083t0031a0001c0001t0001a0001c0001t0008others(61): Show | a0000c0083t0031g0037a0001c0001t0001g0001a0001c0001t0001g0014others(72): Show | 137 | 271 | 0.5055 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | 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 | ||
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 | |||||
ZC3H12B_chrX_65029826_65512887 | 65497128 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00735.hp2 HG00738.hp1 HG01081.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0128a0001c0001t0002g0142others(55): Show | 58 | 165 | 0.3515 | 1 | c.609 others(6): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ZFP92_chrX_153406472_153431481 | 153420828 | C | CG | frameshift_variant | HIGH | HG02622.hp1 NA19076.hp1 |
a0004a0005 | a0004c0007a0005c0008 | a0004c0007t0021a0005c0008t0098 | a0004c0007t0021g0057a0005c0008t0098g0037 | 2 | 329 | 0.0061 | 1 | c.453 others(4): Show |
p.Tyr others(5): Show |
ZFP92 | ENSG00000189420.9 | transcript | ENST00000338647.7 | protein_coding | 6/6 | 753/6403 | 454/1251 | 152/416 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZIC5_chr13_99957964_99976767 | 99971172 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show |
a0003a0010a0016 | a0003c0003a0003c0004a0003c0021others(9): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(29): Show | a0003c0003t0001g0003a0003c0003t0001g0080a0003c0003t0003g0035others(34): Show | 64 | 410 | 0.1561 | 1 | c.431 others(4): Show |
p.Pro others(5): Show |
ZIC5 | ENSG00000139800.9 | transcript | ENST00000267294.5 | protein_coding | 1/2 | 595/4497 | 431/1920 | 144/639 | chr13 | TogoVar | ||
ZKSCAN3_chr6_28344947_28374172 | 28365505 | C | A | stop_gained | HIGH | HG02622.hp2 | a0006 | a0006c0011 | a0006c0011t0012 | a0006c0011t0012g0095 | 1 | 414 | 0.0024 | 0 | c.837 others(3): Show |
p.Cys others(4): Show |
ZKSCAN3 | ENSG00000189298.14 | transcript | ENST00000252211.7 | protein_coding | 6/6 | 1020/4687 | 837/1617 | 279/538 | chr6 | 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 | ||
ZNF419_chr19_57482750_57501098 | 57492212 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0002a0005 | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(32): Show | a0002c0002t0004g0003a0002c0002t0004g0028a0002c0002t0004g0029others(68): Show | 139 | 418 | 0.3325 | 0 | c.298 others(5): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 4/4 | 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 | ||
ZNF474_chr5_122124546_122158569 | 122152940 | AT | A | frameshift_variant | HIGH | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(82): Show |
a0003a0004a0007others(2): Show | a0003c0003a0003c0014a0004c0004others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(11): Show | a0003c0003t0001g0002a0003c0003t0001g0003a0003c0003t0001g0007others(76): Show | 85 | 386 | 0.2202 | -1 | c.953 others(4): Show |
p.Leu others(5): Show |
ZNF474 | ENSG00000164185.7 | transcript | ENST00000296600.5 | protein_coding | 2/2 | 1303/1929 | 953/1095 | 318/364 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |