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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNGA2_chrX_151729746_151750564 | 151744371 | CG | C | frameshift_variant | HIGH | NA18974.hp1 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0034 | 1 | 336 | 0.0030 | -1 | c.187 others(5): Show |
p.Ala others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 2097/3285 | 1873/1995 | 625/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(135): Show | 138 | 218 | 0.6330 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | 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 | |||||
CR1_chr1_207491157_207646765 | 207544734 | TTGCTACA others(18549): Show |
T | exon_loss_variant | HIGH | HG00735.hp1 HG02004.hp1 NA18974.hp1 others(1): Show |
a0003a0008a0048 | a0003c0003a0008c0017a0008c0036others(1): Show | a0003c0003t0001a0008c0017t0001a0008c0036t0001others(1): Show | a0003c0003t0001g0267a0008c0017t0001g0043a0008c0036t0001g0145others(1): Show | 4 | 360 | 0.0111 | -18556 | c.234 others(9): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 15/47 | 2451/9937 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CRLF2_chrX_1185490_1217649 | 1190979 | TG | T | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0131 | 1 | 167 | 0.0060 | -1 | c.103 others(5): Show |
p.His others(5): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 8/8 | 1048/1538 | 1033/1116 | 345/371 | chrX | TogoVar | ||
CRLF2_chrX_1185490_1217649 | 1191066 | A | AC | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0131 | 1 | 167 | 0.0060 | 1 | c.946 others(8): Show |
p.Leu others(5): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 8/8 | 961/1538 | 946/1116 | 316/371 | chrX | TogoVar | ||
CRLF2_chrX_1185490_1217649 | 1198666 | T | TA | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0131 | 1 | 167 | 0.0060 | 1 | c.541 others(4): Show |
p.Tyr others(5): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/8 | 556/1538 | 541/1116 | 181/371 | chrX | TogoVar | ||
CRLF2_chrX_1185490_1217649 | 1198710 | A | AT | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0131 | 1 | 167 | 0.0060 | 1 | c.497 others(4): Show |
p.Asn others(5): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/8 | 512/1538 | 497/1116 | 166/371 | chrX | TogoVar | ||
CRLF2_chrX_1185490_1217649 | 1202410 | C | CG | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0131 | 1 | 167 | 0.0060 | 1 | c.474 others(4): Show |
p.Glu others(5): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/8 | 489/1538 | 474/1116 | 158/371 | chrX | TogoVar | ||
CRLF2_chrX_1185490_1217649 | 1202419 | A | AG | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0131 | 1 | 167 | 0.0060 | 1 | c.465 others(4): Show |
p.Phe others(5): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/8 | 480/1538 | 465/1116 | 155/371 | chrX | TogoVar | ||
CRLF2_chrX_1185490_1217649 | 1202519 | C | CG | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0131 | 1 | 167 | 0.0060 | 1 | c.365 others(4): Show |
p.Lys others(5): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 4/8 | 380/1538 | 365/1116 | 122/371 | chrX | TogoVar | ||
CRLF2_chrX_1185490_1217649 | 1208849 | T | TC | frameshift_variant | HIGH | NA18974.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0131 | 1 | 167 | 0.0060 | 1 | c.138 others(4): Show |
p.Asn others(4): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 2/8 | 153/1538 | 138/1116 | 46/371 | chrX | TogoVar | ||
CSF1_chr1_109905849_109935992 | 109923714 | A | AC | frameshift_variant | HIGH | HG00673.hp1 HG01106.hp1 HG01123.hp1 others(27): Show |
a0004a0005a0008others(2): Show | a0004c0007a0004c0010a0004c0013others(6): Show | a0004c0007t0001a0004c0007t0002a0004c0007t0004others(12): Show | a0004c0007t0001g0015a0004c0007t0002g0002a0004c0007t0002g0005others(25): Show | 30 | 434 | 0.0691 | 1 | c.109 others(5): Show |
p.Ala others(5): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 6/9 | 1271/3994 | 1096/1665 | 366/554 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||
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 | ||||||
CYP2D6_chr22_42121499_42135810 | 42123231 | GCCTCTGC others(12145): Show |
G | transcript_ablation | HIGH | HG00621.hp2 HG01069.hp1 HG01192.hp2 others(11): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 14 | 417 | 0.0336 | -12152 | c.-45 others(11): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | 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 | ||
DAZ2_chrY_23214533_23296356 | 23236892 | A | AT | frameshift_variant | HIGH | NA18974.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0051 | 1 | 54 | 0.0185 | 1 | c.781 others(4): Show |
p.Tyr others(5): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 10/28 | 990/4065 | 782/1965 | 261/654 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
DAZ2_chrY_23214533_23296356 | 23237719 | TAGACTTC others(4753): Show |
T | exon_loss_variant | HIGH | NA18974.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0051 | 1 | 54 | 0.0185 | -4760 | c.786 others(15): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23244054 | AT | A | frameshift_variant | HIGH | NA18974.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0051 | 1 | 54 | 0.0185 | -1 | c.997 others(4): Show |
p.Tyr others(5): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 13/28 | 1205/4065 | 997/1965 | 333/654 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
DAZ2_chrY_23214533_23296356 | 23244142 | CTGGTCAT others(7148): Show |
C | exon_loss_variant | HIGH | HG01074.hp1 NA18974.hp1 NA19091.hp1 |
a0002a0007a0009 | a0002c0002a0007c0015a0009c0010 | a0002c0002t0001a0007c0015t0001a0009c0010t0001 | a0002c0002t0001g0041a0007c0015t0001g0051a0009c0010t0001g0029 | 3 | 54 | 0.0556 | -7155 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ2_chrY_23214533_23296356 | 23271699 | TTAAATAA others(7146): Show |
T | exon_loss_variant | HIGH | NA18974.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0051 | 1 | 54 | 0.0185 | -7153 | c.157 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show |
a0000a0002 | a0000c0002a0000c0004a0002c0003others(2): Show | a0000c0002t0001a0000c0004t0001a0002c0003t0001others(2): Show | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0003others(16): Show | 233 | 460 | 0.5065 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | 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 | |
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(15): Show | 111 | 385 | 0.2883 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DIPK2B_chrX_45143373_45205876 | 45191975 | CG | C | frameshift_variant | HIGH | NA18974.hp1 | a0015 | a0015c0019 | a0015c0019t0002 | a0015c0019t0002g0236 | 1 | 307 | 0.0033 | -1 | c.273 others(4): Show |
p.Asp others(4): Show |
DIPK2B | ENSG00000147113.17 | transcript | ENST00000398000.7 | protein_coding | 2/5 | 323/4631 | 273/1302 | 91/433 | chrX | 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 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0012a0021others(11): Show | a0001c0001a0001c0004a0001c0027others(16): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(19): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(42): Show | 45 | 282 | 0.1596 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0008a0009a0016others(81): Show | a0008c0214a0008c0262a0008c0266others(98): Show | a0008c0214t0006a0008c0262t0001a0008c0266t0005others(99): Show | a0008c0214t0006g0175a0008c0262t0001g0139a0008c0266t0005g0137others(104): Show | 107 | 298 | 0.3591 | 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 | ||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
EFHC2_chrX_44142872_44348672 | 44148820 | TC | T | frameshift_variant | HIGH | NA18974.hp1 | a0013 | a0013c0014 | a0013c0014t0023 | a0013c0014t0023g0191 | 1 | 221 | 0.0045 | -1 | c.222 others(5): Show |
p.Asp others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 2308/3257 | 2224/2250 | 742/749 | chrX | TogoVar | ||
EIF2S3_chrX_24049956_24083810 | 24057686 | TG | T | frameshift_variant | HIGH | NA18974.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0203 | 1 | 294 | 0.0034 | -1 | c.318 others(4): Show |
p.Ser others(5): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 4/12 | 331/3457 | 318/1419 | 106/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ENDOV_chr17_80410167_80443086 | 80422204 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0172a0001c0001t0001g0257others(15): Show | 35 | 420 | 0.0833 | 0 | c.364 others(5): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0013 | a0003c0003a0013c0019 | a0003c0003t0001a0013c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0015a0003c0003t0001g0021others(12): Show | 63 | 458 | 0.1376 | 0 | c.667 others(3): Show |
p.Arg others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | 1202/3206 | 667/1815 | 223/604 | chr7 | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104250395 | G | GC | frameshift_variant | HIGH | NA18974.hp1 | a0016 | a0016c0037 | a0016c0037t0001 | a0016c0037t0001g0076 | 1 | 313 | 0.0032 | 1 | c.105 others(5): Show |
p.Pro others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1137/1495 | 1053/1221 | 351/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254161 | C | CA | frameshift_variant | HIGH | NA18974.hp1 | a0016 | a0016c0037 | a0016c0037t0001 | a0016c0037t0001g0076 | 1 | 313 | 0.0032 | 1 | c.498 others(4): Show |
p.Val others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 582/1495 | 498/1221 | 166/406 | chrX | TogoVar | ||
FAAH2_chrX_57281706_57494193 | 57292505 | G | GT | frameshift_variant | HIGH | NA18974.hp1 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0117 | 1 | 282 | 0.0036 | 1 | c.201 others(4): Show |
p.Ile others(4): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/11 | 322/1980 | 202/1599 | 68/532 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FAAH2_chrX_57281706_57494193 | 57488772 | T | TG | frameshift_variant | HIGH | NA18974.hp1 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0117 | 1 | 282 | 0.0036 | 1 | c.144 others(5): Show |
p.Leu others(5): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 11/11 | 1563/1980 | 1443/1599 | 481/532 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FAAH2_chrX_57281706_57494193 | 57488820 | TC | T | frameshift_variant | HIGH | NA18955.hp1 NA18974.hp1 |
a0006a0007 | a0006c0009a0007c0008 | a0006c0009t0002a0007c0008t0004 | a0006c0009t0002g0192a0007c0008t0004g0117 | 2 | 282 | 0.0071 | -1 | c.149 others(5): Show |
p.Pro others(5): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 11/11 | 1610/1980 | 1490/1599 | 497/532 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FAAH2_chrX_57281706_57494193 | 57488845 | TG | T | frameshift_variant | HIGH | NA18974.hp1 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0117 | 1 | 282 | 0.0036 | -1 | c.151 others(5): Show |
p.Gly others(5): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 11/11 | 1634/1980 | 1514/1599 | 505/532 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
FAM166B_chr9_35556831_35568878 | 35562396 | A | ATAGT | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0005 | a0002c0003t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0002c0003t0001g0003a0002c0003t0001g0015a0002c0003t0001g0017others(4): Show | 87 | 436 | 0.1995 | 4 | c.719 others(11): Show |
p.Tyr others(5): Show |
FAM166B | ENSG00000215187.13 | transcript | ENST00000399742.7 | protein_coding | 5/6 | 772/1054 | 722/828 | 241/275 | chr9 | TogoVar | ||
FAM220A_chr7_6324411_6353967 | 6331130 | CGAGGGGC others(39): Show |
C | frameshift_variant others(1): Show |
HIGH | NA18974.hp1 | a0006 | a0006c0014 | a0006c0014t0018 | a0006c0014t0018g0324 | 1 | 420 | 0.0024 | -46 | c.-22 others(52): Show |
p.Met others(3): Show |
FAM220A | ENSG00000178397.13 | transcript | ENST00000313324.9 | protein_coding | 2/2 | 500/2220 | 1/780 | 1/259 | chr7 | TogoVar | ||
FAM47B_chrX_34937796_34949915 | 34944092 | T | TC | frameshift_variant | HIGH | NA18974.hp1 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0000 | 1 | 331 | 0.0030 | 1 | c.126 others(5): Show |
p.Ser others(5): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1/1 | 1300/2120 | 1264/1938 | 422/645 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
FAM90A17_chr8_7741034_7754044 | 7746649 | A | T | splice_acceptor_variant others(1): Show |
HIGH | NA18974.hp2 | a0011 | a0011c0017 | a0011c0017t0000 | a0011c0017t0000g0059 | 1 | 108 | 0.0093 | 0 | c.124 others(5): Show |
FAM90A17 | ENSG00000285720.1 | transcript | ENST00000650426.1 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
FAM90A17_chr8_7741034_7754044 | 7747419 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show |
a0001a0002a0005others(21): Show | a0001c0001a0001c0015a0002c0005others(26): Show | a0001c0001t0000a0001c0015t0000a0002c0005t0000others(26): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0003others(50): Show | 76 | 108 | 0.7037 | 0 | c.432 others(5): Show |
FAM90A17 | ENSG00000285720.1 | transcript | ENST00000650426.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A19_chr8_7748682_7761692 | 7755067 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
a0001a0003a0005others(25): Show | a0001c0001a0001c0033a0003c0003others(26): Show | a0001c0001t0000a0001c0033t0000a0003c0003t0000others(26): Show | a0001c0001t0000g0002a0001c0001t0000g0004a0001c0001t0000g0005others(48): Show | 73 | 116 | 0.6293 | 0 | c.432 others(5): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 3/3 | chr8 | TogoVar |