view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CES5A_chr16_55841154_55880373 | 55869642 | G | A | stop_gained | HIGH | HG01168.hp1 HG02109.hp1 HG02572.hp1 others(11): Show |
a0007a0011 | a0007c0020a0007c0021a0007c0068others(6): Show | a0007c0020t0001a0007c0020t0003a0007c0021t0001others(7): Show | a0007c0020t0001g0360 a0007c0020t0001g0361 a0007c0020t0003g0120 others(11): Show |
14 | 448 | 0.0313 | 0 | c.520 others(3): Show |
p.Gln others(4): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/13 | 672/2177 | 520/1728 | 174/575 | chr16 | TogoVar | |||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show |
354 | 422 | 0.8389 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32704796 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 others(12): Show |
15 | 352 | 0.0426 | 1 | c.118 others(6): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show |
137 | 215 | 0.6372 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
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 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
134 | 368 | 0.3641 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31689049 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0005a0001c0006a0001c0016others(7): Show | a0001c0005t0001a0001c0006t0001a0001c0006t0002others(10): Show | a0001c0005t0001g0100 a0001c0005t0001g0128 a0001c0005t0001g0130 others(15): Show |
18 | 340 | 0.0529 | 0 | c.165 others(6): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 24/70 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0001a0007a0008others(1): Show | a0001c0005a0001c0008a0001c0028others(3): Show | a0001c0005t0001a0001c0008t0001a0001c0028t0001others(3): Show | a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 others(19): Show |
41 | 436 | 0.0940 | 0 | c.976 others(3): Show |
p.Gln others(4): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 19/32 | 1065/2852 | 976/2070 | 326/689 | chr1 | TogoVar | |||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0016a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show |
275 | 343 | 0.8017 | -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 | 207545757 | GCACACAC others(18566): Show |
G | exon_loss_variant | HIGH | HG01891.hp1 HG02572.hp1 HG02723.hp2 others(6): Show |
a0006a0016 | a0006c0005a0016c0022 | a0006c0005t0002a0006c0005t0005a0016c0022t0002 | a0006c0005t0002g0136 a0006c0005t0002g0137 a0006c0005t0002g0138 others(6): Show |
9 | 341 | 0.0264 | -18573 | c.251 others(17): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 16/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CSF1_chr1_109905849_109935992 | 109923714 | A | AC | frameshift_variant | HIGH | HG00673.hp1 HG01106.hp1 HG01123.hp1 others(27): Show |
a0004a0005a0008others(1): Show | a0004c0007a0004c0010a0004c0013others(6): Show | a0004c0007t0001a0004c0007t0002a0004c0007t0004others(12): Show | a0004c0007t0001g0015 a0004c0007t0002g0002 a0004c0007t0002g0006 others(25): Show |
30 | 429 | 0.0699 | 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 | ||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 others(89): Show |
114 | 372 | 0.3065 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CYP3A43_chr7_99823013_99871093 | 99836454 | TA | T | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show |
a0002 | a0002c0002a0002c0010a0002c0011others(3): Show | a0002c0002t0001a0002c0010t0001a0002c0011t0001others(3): Show | a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 others(28): Show |
37 | 324 | 0.1142 | -1 | c.74d others(3): Show |
p.Tyr others(4): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 2/13 | 177/1707 | 74/1512 | 25/503 | chr7 | TogoVar | |||
CYP4B1_chr1_46794046_46824413 | 46810950 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02976.hp1 HG03130.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0052 a0004c0004t0004g0053 |
2 | 398 | 0.0050 | 0 | c.322 others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DAZ2_chrY_23214533_23296356 | 23249555 | CTTTTTTT others(7149): Show |
C | exon_loss_variant | HIGH | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 |
5 | 51 | 0.0980 | -7156 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ3_chrY_24758069_24818393 | 24785027 | CTATGTCA others(7131): Show |
C | exon_loss_variant | HIGH | HG02055.hp1 HG02258.hp1 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(5): Show |
10 | 44 | 0.2273 | -7138 | c.859 others(16): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 14/19 | chrY | TogoVar | |||||||
DAZ4_chrY_24828919_24912040 | 24861624 | GTGAAGTA others(4773): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 others(25): Show |
28 | 35 | 0.8000 | -4780 | c.121 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24871328 | CTTCTGGG others(4749): Show |
C | exon_loss_variant | HIGH | HG01106.hp1 HG02055.hp1 HG02258.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 others(5): Show |
8 | 40 | 0.2000 | -4756 | c.149 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show |
268 | 454 | 0.5903 | 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 | |||
DCDC2C_chr2_3698575_3853008 | 3778886 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01123.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
a0001a0005 | a0001c0005a0005c0010 | a0001c0005t0001a0001c0005t0002a0001c0005t0005others(4): Show | a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0001g0246 others(11): Show |
14 | 322 | 0.0435 | 0 | c.102 others(6): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
DCD_chr12_54639589_54653365 | 54647120 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02886.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 2 | 426 | 0.0047 | 0 | c.97+ others(4): Show |
DCD | ENSG00000161634.12 | transcript | ENST00000293371.11 | protein_coding | 2/4 | chr12 | 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 | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show |
195 | 436 | 0.4472 | 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 | |||
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show |
56 | 139 | 0.4029 | 1 | c.733 others(6): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0004a0013a0035others(2): Show | a0004c0005a0004c0028a0013c0015others(3): Show | a0004c0005t0001a0004c0028t0002a0013c0015t0001others(3): Show | a0004c0005t0001g0002 a0004c0005t0001g0003 a0004c0005t0001g0026 others(16): Show |
27 | 280 | 0.0964 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147540366 | TTTTGCTC others(24): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0198 | 1 | 278 | 0.0036 | -31 | c.103 others(43): Show |
p.Phe others(13): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 7/8 | 1035/1284 | 345/427 | chr4 | TogoVar | ||||
ENTPD2_chr9_137043107_137059061 | 137048861 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 398 | 0.0025 | 0 | c.128 others(6): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 8/8 | chr9 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(216): Show |
221 | 226 | 0.9779 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | TogoVar | |||||||
FAM47E_chr4_76246721_76288783 | 76263844 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02280.hp1 HG02572.hp1 HG02622.hp2 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0053 a0003c0003t0001g0024 a0003c0003t0001g0068 others(2): Show |
9 | 386 | 0.0233 | 0 | c.560 others(5): Show |
FAM47E | ENSG00000189157.14 | transcript | ENST00000424749.7 | protein_coding | 3/7 | chr4 | TogoVar | |||||||
FAM90A10_chr8_7763977_7776988 | 7770362 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(41): Show |
a0003a0005a0009others(16): Show | a0003c0003a0005c0005a0009c0021others(18): Show | a0003c0003t0001a0005c0005t0001a0009c0021t0001others(18): Show | a0003c0003t0001g0001 a0003c0003t0001g0027 a0005c0005t0001g0004 others(19): Show |
44 | 126 | 0.3492 | 0 | c.432 others(5): Show |
FAM90A10 | ENSG00000285950.1 | transcript | ENST00000533716.2 | 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 | a0001c0001t0001a0001c0033t0001a0003c0003t0001others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(48): Show |
73 | 116 | 0.6293 | 0 | c.432 others(5): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A9_chr8_7756330_7769340 | 7762715 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(60): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0018a0003c0003others(19): Show | a0001c0001t0001a0001c0018t0001a0003c0003t0001others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(35): Show |
63 | 92 | 0.6848 | 0 | c.432 others(5): Show |
FAM90A9 | ENSG00000285607.1 | transcript | ENST00000648344.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FBXW10B_chr17_15578886_15624704 | 15605362 | G | A | stop_gained | HIGH | HG02145.hp2 HG02258.hp1 HG02970.hp1 others(3): Show |
a0015 | a0015c0013 | a0015c0013t0006a0015c0013t0049 | a0015c0013t0006g0036 a0015c0013t0006g0038 a0015c0013t0006g0039 others(3): Show |
6 | 450 | 0.0133 | 0 | c.129 others(4): Show |
p.Arg others(4): Show |
FBXW10B | ENSG00000241322.11 | transcript | ENST00000395906.8 | protein_coding | 7/12 | 1486/7540 | 1294/2259 | 432/752 | chr17 | TogoVar | |||
FGF11_chr17_7434512_7449937 | 7442621 | AAGGAGTG others(13): Show |
A | frameshift_variant | HIGH | HG03130.hp2 | a0005 | a0005c0005 | a0005c0005t0011 | a0005c0005t0011g0001 | 1 | 348 | 0.0029 | -20 | c.437 others(27): Show |
p.Lys others(5): Show |
FGF11 | ENSG00000161958.11 | transcript | ENST00000293829.9 | protein_coding | 4/5 | 546/2578 | 437/678 | 146/225 | chr17 | TogoVar | |||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show |
278 | 365 | 0.7616 | 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 |
a0005a0008a0009others(21): Show | a0005c0006a0005c0132a0008c0010others(25): Show | a0005c0006t0001a0005c0132t0001a0008c0010t0001others(25): Show | a0005c0006t0001g0003 a0005c0132t0001g0117 a0008c0010t0001g0026 others(32): Show |
58 | 424 | 0.1368 | 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 | |||
FLG_chr1_152297165_152330239 | 152304887 | C | T | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 0 | c.999 others(4): Show |
p.Trp others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10071/12793 | 9999/12186 | 3333/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152305571 | G | C | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 0 | c.931 others(4): Show |
p.Tyr others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9387/12793 | 9315/12186 | 3105/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152305861 | G | A | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 0 | c.902 others(4): Show |
p.Arg others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9097/12793 | 9025/12186 | 3009/4061 | chr1 | TogoVar | |||
FMNL2_chr2_152330174_152654826 | 152619552 | G | GCCAC | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show |
a0002a0003a0007 | a0002c0002a0002c0004a0002c0007others(13): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0002 a0002c0002t0001g0021 a0002c0002t0001g0033 others(72): Show |
75 | 76 | 0.9868 | 4 | c.167 others(13): Show |
p.Pro others(5): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 15/26 | 2104/5630 | 1674/3279 | 558/1092 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(345): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(165): Show |
348 | 364 | 0.9560 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | |||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show |
335 | 382 | 0.8770 | -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 | ||
FOLR3_chr11_72130725_72144892 | 72139671 | G | A | stop_gained | HIGH | HG03130.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0030 | 1 | 382 | 0.0026 | 0 | c.578 others(3): Show |
p.Trp others(4): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 5/5 | 628/849 | 578/738 | 193/245 | chr11 | TogoVar | |||
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0002a0007a0009 | a0002c0002a0002c0005a0002c0010others(3): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(5): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(5): Show |
99 | 324 | 0.3056 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0002a0006a0007others(1): Show | a0002c0002a0002c0005a0002c0010others(4): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(6): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(6): Show |
101 | 324 | 0.3117 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | TogoVar | |||
FOXD4L3_chr9_68297867_68310084 | 68303273 | A | T | stop_gained | HIGH | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show |
84 | 174 | 0.4828 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
FOXD4L3 | ENSG00000187559.6 | transcript | ENST00000342833.4 | protein_coding | 1/1 | 407/2218 | 322/1254 | 108/417 | chr9 | TogoVar | |||
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show |
91 | 392 | 0.2321 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | TogoVar | |||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show |
89 | 208 | 0.4279 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GJB4_chr1_34754740_34767327 | 34761404 | CT | C | frameshift_variant | HIGH | HG01109.hp1 HG02258.hp1 HG02647.hp1 others(7): Show |
a0005 | a0005c0006a0005c0008a0005c0009 | a0005c0006t0001a0005c0006t0004a0005c0008t0001others(1): Show | a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0008t0001g0002 others(1): Show |
10 | 460 | 0.0217 | -1 | c.153 others(4): Show |
p.Phe others(4): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 2/2 | 524/1444 | 153/801 | 51/266 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
GJB4_chr1_34754740_34767327 | 34761492 | C | T | stop_gained | HIGH | HG01109.hp1 HG02647.hp1 HG02886.hp2 others(5): Show |
a0005 | a0005c0006a0005c0009 | a0005c0006t0001a0005c0006t0004a0005c0009t0001 | a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0009t0001g0002 |
8 | 460 | 0.0174 | 0 | c.238 others(3): Show |
p.Gln others(3): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 2/2 | 609/1444 | 238/801 | 80/266 | chr1 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show |
a0002a0038 | a0002c0002a0002c0049a0038c0044 | a0002c0002t0002a0002c0002t0011a0002c0002t0017others(3): Show | a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 others(17): Show |
60 | 295 | 0.2034 | 40 | c.752 others(47): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0002a0013a0029others(2): Show | a0002c0002a0002c0049a0013c0012others(3): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0017others(7): Show | a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 others(21): Show |
66 | 188 | 0.3511 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar |