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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(17): Show | a0001c0001t0001g0035a0001c0001t0001g0114a0001c0001t0001g0155others(80): Show | 100 | 372 | 0.2688 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49705086 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00735.hp2 others(14): Show |
a0002a0003 | a0002c0003a0002c0005a0003c0007 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(3): Show | a0002c0003t0001g0138a0002c0003t0001g0142a0002c0003t0001g0230others(14): Show | 17 | 350 | 0.0486 | 1 | c.853 others(4): Show |
p.Arg others(5): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 9/20 | 1162/2846 | 854/2412 | 285/803 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRLF2_chrX_1185490_1217649 | 1191040 | TG | T | frameshift_variant | HIGH | NA19082.hp1 | a0014 | a0014c0027 | a0014c0027t0007 | a0014c0027t0007g0068 | 1 | 167 | 0.0060 | -1 | c.972 others(4): Show |
p.Arg others(5): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 8/8 | 987/1538 | 972/1116 | 324/371 | chrX | TogoVar | ||
CROCC2_chr2_240901336_240998311 | 240932891 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01952.hp1 HG02559.hp2 others(6): Show |
a0011a0021a0022 | a0011c0043a0011c0044a0011c0045others(5): Show | a0011c0043t0001a0011c0044t0002a0011c0045t0002others(5): Show | a0011c0043t0001g0171a0011c0044t0002g0317a0011c0045t0002g0320others(6): Show | 9 | 350 | 0.0257 | 1 | c.123 others(5): Show |
p.Trp others(5): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 9/32 | 1415/5370 | 1237/4962 | 413/1653 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0049others(237): Show | 243 | 386 | 0.6295 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | ||
CT47A2_chrX_120972606_120985928 | 120980402 | C | CG | frameshift_variant | HIGH | NA19082.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0018 | 1 | 253 | 0.0040 | 1 | c.267 others(4): Show |
p.Ala others(4): Show |
CT47A2 | ENSG00000242362.2 | transcript | ENST00000458218.3 | protein_coding | 1/3 | 526/1298 | 267/867 | 89/288 | chrX | TogoVar | ||
CTSW_chr11_65874837_65888741 | 65883507 | G | C | splice_acceptor_variant others(1): Show |
HIGH | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 366 | 0.0027 | 0 | c.102 others(6): Show |
CTSW | ENSG00000172543.9 | transcript | ENST00000307886.8 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146814392 | TCTTTAGG others(8): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA19082.hp1 | a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0013 | 1 | 264 | 0.0038 | -15 | c.133 others(24): Show |
p.Gly others(11): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 2/2 | 162/449 | 133/327 | 45/108 | chrX | TogoVar | ||
CYLC1_chrX_83856146_83891698 | 83873536 | T | A | stop_gained | HIGH | NA19082.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0063 | 1 | 208 | 0.0048 | 0 | c.828 others(3): Show |
p.Tyr others(4): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/5 | 865/2107 | 828/1956 | 276/651 | chrX | TogoVar | ||
CYLC1_chrX_83856146_83891698 | 83873810 | G | GA | frameshift_variant | HIGH | NA19082.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0063 | 1 | 208 | 0.0048 | 1 | c.110 others(5): Show |
p.Ser others(5): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/5 | 1141/2107 | 1104/1956 | 368/651 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CYLC1_chrX_83856146_83891698 | 83873911 | GA | G | frameshift_variant | HIGH | NA19082.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0063 | 1 | 208 | 0.0048 | -1 | c.120 others(5): Show |
p.Ile others(5): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/5 | 1244/2107 | 1207/1956 | 403/651 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CYLC1_chrX_83856146_83891698 | 83873972 | G | GA | frameshift_variant | HIGH | NA19082.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0063 | 1 | 208 | 0.0048 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/5 | 1309/2107 | 1272/1956 | 424/651 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0103others(37): Show | 69 | 400 | 0.1725 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar | ||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 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 | ||
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 | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0008others(124): Show | 195 | 438 | 0.4452 | 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 | ||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0019others(3): Show | a0002c0002a0002c0005a0002c0027others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0027t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0007a0002c0002t0001g0019others(59): Show | 132 | 436 | 0.3028 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DHRS7B_chr17_21121964_21196420 | 21191142 | A | T | stop_gained | HIGH | NA19082.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0083 | 1 | 382 | 0.0026 | 0 | c.967 others(3): Show |
p.Lys others(4): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 7/7 | 975/1253 | 967/978 | 323/325 | chr17 | TogoVar | ||
DHX34_chr19_47344315_47387704 | 47381316 | GGCCCCCA others(40): Show |
G | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0238 | 1 | 382 | 0.0026 | -47 | c.329 others(59): Show |
p.Pro others(6): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 16/17 | 3609/4338 | 3294/3432 | 1098/1143 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DMAC1_chr9_7791500_7804778 | 7798638 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0020 | a0004c0005t0020g0045 | 1 | 474 | 0.0021 | 0 | c.275 others(5): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(37): Show |
a0003a0008a0011others(6): Show | a0003c0005a0003c0017a0003c0086others(10): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(12): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(34): Show | 40 | 282 | 0.1418 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(4052): Show |
T | exon_loss_variant | HIGH | HG00673.hp2 HG01081.hp2 HG01099.hp2 others(18): Show |
a0001a0012a0046others(2): Show | a0001c0001a0001c0004a0001c0074others(5): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(6): Show | a0001c0001t0002g0165a0001c0001t0002g0179a0001c0001t0002g0183others(18): Show | 21 | 282 | 0.0745 | -4059 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMKN_chr19_35492220_35518649 | 35498898 | C | G | splice_acceptor_variant others(1): Show |
HIGH | NA18747.hp2 NA19082.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092a0002c0002t0001g0132 | 2 | 442 | 0.0045 | 0 | c.136 others(6): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 13/15 | chr19 | TogoVar | ||||||
DYNLT5_chr1_66747459_66784047 | 66776404 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010a0003c0003t0021 | a0003c0003t0002g0007a0003c0003t0002g0011a0003c0003t0002g0012others(30): Show | 55 | 402 | 0.1368 | 0 | c.336 others(5): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM86B1_chr8_12177106_12199082 | 12189807 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0013others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(39): Show | 55 | 176 | 0.3125 | 0 | c.240 others(5): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
FCHO2_chr5_72951041_73095522 | 73081754 | A | AACAATTG others(36): Show |
frameshift_variant | HIGH | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0193 | 1 | 286 | 0.0035 | 43 | c.198 others(55): Show |
p.Ile others(5): Show |
FCHO2 | ENSG00000157107.14 | transcript | ENST00000430046.7 | protein_coding | 23/26 | 2053/4921 | 1997/2433 | 666/810 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FLG_chr1_152297165_152330239 | 152304352 | G | A | stop_gained | HIGH | HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show |
a0006a0010a0012others(22): Show | a0006c0006a0006c0136a0010c0010others(25): Show | a0006c0006t0001a0006c0136t0001a0010c0010t0001others(25): Show | a0006c0006t0001g0003a0006c0136t0001g0124a0010c0010t0001g0026others(32): Show | 58 | 426 | 0.1362 | 0 | c.105 others(5): Show |
p.Gln others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10606/12793 | 10534/12186 | 3512/4061 | chr1 | TogoVar | ||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(24): Show | 336 | 384 | 0.8750 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | ||
FOXRED1_chr11_126264154_126283126 | 126275803 | CTTCATCT others(75): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0098 | 1 | 390 | 0.0026 | -82 | c.744 others(92): Show |
p.Ser others(5): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 7/11 | 797/1951 | 744/1461 | 248/486 | chr11 | TogoVar | ||
FSTL3_chr19_671392_688385 | 681489 | C | A | stop_gained | HIGH | NA19082.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0039 | 1 | 434 | 0.0023 | 0 | c.662 others(3): Show |
p.Ser others(4): Show |
FSTL3 | ENSG00000070404.10 | transcript | ENST00000166139.9 | protein_coding | 4/5 | 694/2501 | 662/792 | 221/263 | chr19 | TogoVar | ||
FTHL17_chrX_31066233_31077041 | 31071512 | C | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show |
a0002a0004a0006 | a0002c0003a0002c0004a0004c0006others(1): Show | a0002c0003t0001a0002c0004t0001a0004c0006t0001others(1): Show | a0002c0003t0001g0000a0002c0004t0001g0000a0004c0006t0001g0000others(1): Show | 37 | 336 | 0.1101 | 0 | c.442 others(3): Show |
p.Glu others(4): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 1/1 | 530/809 | 442/552 | 148/183 | chrX | TogoVar | ||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0007others(74): Show | 148 | 430 | 0.3442 | 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 | ||
GAGE12G_chrX_49565400_49582754 | 49572176 | C | CT | frameshift_variant | HIGH | NA19082.hp1 | a0008 | a0008c0008 | a0008c0008t0012 | a0008c0008t0012g0076 | 1 | 95 | 0.0105 | 1 | c.157 others(8): Show |
p.Pro others(4): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 3/5 | 274/561 | 158/354 | 53/117 | chrX | TogoVar | ||
GAGE12G_chrX_49565400_49582754 | 49572204 | AG | A | frameshift_variant | HIGH | NA19082.hp1 | a0008 | a0008c0008 | a0008c0008t0012 | a0008c0008t0012g0076 | 1 | 95 | 0.0105 | -1 | c.188 others(4): Show |
p.Gly others(4): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 3/5 | 304/561 | 188/354 | 63/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GAGE12H_chrX_49574949_49592301 | 49581725 | C | CT | frameshift_variant | HIGH | NA19082.hp1 | a0009 | a0009c0009 | a0009c0009t0011 | a0009c0009t0011g0090 | 1 | 116 | 0.0086 | 1 | c.157 others(8): Show |
p.Pro others(4): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 3/5 | 274/561 | 158/354 | 53/117 | chrX | TogoVar | ||
GAGE12H_chrX_49574949_49592301 | 49581753 | AG | A | frameshift_variant | HIGH | NA19082.hp1 | a0009 | a0009c0009 | a0009c0009t0011 | a0009c0009t0011g0090 | 1 | 116 | 0.0086 | -1 | c.188 others(4): Show |
p.Gly others(4): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 3/5 | 304/561 | 188/354 | 63/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
GJB5_chr1_34750047_34763512 | 34757288 | TGTTCTTG others(10): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18612.hp1 NA18946.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 4 | 468 | 0.0086 | -17 | c.-24 others(27): Show |
GJB5 | ENSG00000189280.3 | transcript | ENST00000338513.1 | protein_coding | 2/2 | 24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
GNB4_chr3_179391088_179456470 | 179419408 | TATCCCCA others(10): Show |
T | frameshift_variant | HIGH | NA19082.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0126 | 1 | 400 | 0.0025 | -17 | c.177 others(24): Show |
p.Tyr others(4): Show |
GNB4 | ENSG00000114450.11 | transcript | ENST00000232564.8 | protein_coding | 4/10 | 360/6315 | 177/1023 | 59/340 | chr3 | TogoVar | ||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 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(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 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(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 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(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -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 |