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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HMGB3_chrX_150978335_150995771 | 150986145 | AG | A | frameshift_variant | HIGH | NA19075.hp1 | a0003 | a0003c0003 | a0003c0003t0031 | a0003c0003t0031g0078 | 1 | 330 | 0.0030 | -1 | c.248 others(4): Show |
p.Gly others(4): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 3/5 | 295/3507 | 248/603 | 83/200 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
HMSD_chr18_63944301_63966835 | 63954437 | AGATGGAG others(9): Show |
A | frameshift_variant | HIGH | HG02109.hp2 HG02622.hp2 HG02895.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0043a0002c0003t0002g0096a0002c0003t0002g0097 | 4 | 404 | 0.0099 | -16 | c.105 others(23): Show |
p.Asp others(4): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 3/4 | 307/2102 | 105/420 | 35/139 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
HNF1A_chr12_120973543_121007512 | 120994313 | G | GC | frameshift_variant | HIGH | HG00735.hp1 HG01071.hp2 HG01081.hp1 others(4): Show |
a0006 | a0006c0009a0006c0014 | a0006c0009t0001a0006c0009t0004a0006c0014t0001 | a0006c0009t0001g0129a0006c0009t0004g0059a0006c0009t0004g0080others(4): Show | 7 | 410 | 0.0171 | 1 | c.863 others(8): Show |
p.Pro others(5): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 4/10 | 1090/3442 | 864/1896 | 288/631 | chr12 | TogoVar | ||
HNF1A_chr12_120973543_121007512 | 120999566 | CCAGGACC others(3): Show |
C | frameshift_variant | HIGH | NA18972.hp2 | a0000 | a0000c0020 | a0000c0020t0001 | a0000c0020t0001g0124 | 1 | 410 | 0.0024 | -10 | c.170 others(19): Show |
p.Gln others(5): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 9/10 | 1935/3442 | 1709/1896 | 570/631 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
HNRNPA1L2_chr13_52637431_52648773 | 52643320 | GA | G | frameshift_variant | HIGH | HG01255.hp2 HG01256.hp2 HG01361.hp2 others(3): Show |
a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0000 | 6 | 436 | 0.0138 | -1 | c.830 others(4): Show |
p.Lys others(5): Show |
HNRNPA1L2 | ENSG00000139675.13 | transcript | ENST00000357495.5 | protein_coding | 1/1 | 892/1343 | 830/963 | 277/320 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
HNRNPCL1_chr1_12842377_12853720 | 12847909 | T | TGGGAAAC others(7): Show |
frameshift_variant | HIGH | NA18972.hp2 | a0007 | a0007c0010 | a0007c0010t0010 | a0007c0010t0010g0019 | 1 | 354 | 0.0028 | 14 | c.380 others(21): Show |
p.Pro others(5): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 2/2 | 601/1134 | 380/882 | 127/293 | chr1 | TogoVar | ||
HNRNPCL1_chr1_12842377_12853720 | 12848006 | GCGTTTCC others(24): Show |
G | frameshift_variant | HIGH | NA19057.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0020 | 1 | 354 | 0.0028 | -31 | c.253 others(38): Show |
p.Ala others(4): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 2/2 | 504/1134 | 253/882 | 85/293 | chr1 | TogoVar | ||
HNRNPCL1_chr1_12842377_12853720 | 12848051 | ACAACCTG others(51): Show |
A | frameshift_variant | HIGH | NA18972.hp2 | a0007 | a0007c0010 | a0007c0010t0010 | a0007c0010t0010g0019 | 1 | 354 | 0.0028 | -58 | c.181 others(65): Show |
p.Lys others(4): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 2/2 | 459/1134 | 181/882 | 61/293 | chr1 | TogoVar | ||
HNRNPCL4_chr1_13158914_13170631 | 13164682 | CT | C | frameshift_variant | HIGH | HG01433.hp1 HG01433.hp2 NA18954.hp2 others(2): Show |
a0003 | a0003c0005a0003c0009 | a0003c0005t0001a0003c0009t0001 | a0003c0005t0001g0000a0003c0009t0001g0000 | 5 | 215 | 0.0233 | -1 | c.785 others(4): Show |
p.Gln others(5): Show |
HNRNPCL4 | ENSG00000179412.11 | transcript | ENST00000323770.8 | protein_coding | 1/1 | 949/1718 | 785/882 | 262/293 | chr1 | TogoVar | ||
HNRNPD_chr4_82347498_82378991 | 82356546 | C | CACCATAT others(6): Show |
frameshift_variant | HIGH | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0158 | 1 | 332 | 0.0030 | 13 | c.978 others(20): Show |
p.Asp others(5): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 7/9 | 1303/3068 | 990/1068 | 330/355 | chr4 | TogoVar | ||
HNRNPM_chr19_8439975_8494114 | 8483168 | TAATGCAC others(3): Show |
T | frameshift_variant | HIGH | NA19089.hp1 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0071 | 1 | 360 | 0.0028 | -10 | c.113 others(19): Show |
p.Asn others(5): Show |
HNRNPM | ENSG00000099783.13 | transcript | ENST00000325495.9 | protein_coding | 13/16 | 1157/2477 | 1133/2193 | 378/730 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
HOMEZ_chr14_23267422_23291132 | 23276269 | T | TCACTGGG others(3): Show |
frameshift_variant others(1): Show |
HIGH | HG01258.hp2 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0136 | 1 | 394 | 0.0025 | 10 | c.949 others(17): Show |
p.Glu others(5): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1138/4986 | 958/1653 | 320/550 | chr14 | TogoVar | ||
HOMEZ_chr14_23267422_23291132 | 23276719 | G | GGAGGACC others(3): Show |
frameshift_variant | HIGH | HG01258.hp2 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0136 | 1 | 394 | 0.0025 | 10 | c.499 others(17): Show |
p.Pro others(5): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 688/4986 | 508/1653 | 170/550 | chr14 | TogoVar | ||
HOMEZ_chr14_23267422_23291132 | 23276851 | ACTCGGGC others(28): Show |
A | frameshift_variant | HIGH | HG01192.hp1 | a0011 | a0011c0033 | a0011c0033t0002 | a0011c0033t0002g0219 | 1 | 394 | 0.0025 | -35 | c.342 others(42): Show |
p.Trp others(5): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 556/4986 | 342/1653 | 114/550 | chr14 | TogoVar | ||
HOXA5_chr7_27136052_27148681 | 27141807 | CTGCTCAG others(52): Show |
C | frameshift_variant others(1): Show |
HIGH | HG02040.hp1 | a0000 | a0000c0003 | a0000c0003t0021 | a0000c0003t0021g0031 | 1 | 398 | 0.0025 | -59 | c.782 others(66): Show |
p.Met others(5): Show |
HOXA5 | ENSG00000106004.5 | transcript | ENST00000222726.4 | protein_coding | 2/2 | 914/1670 | 782/813 | 261/270 | chr7 | TogoVar | ||
HOXB5_chr17_48586257_48598779 | 48593290 | GGTGAAAT others(4): Show |
G | frameshift_variant | HIGH | NA19002.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0015 | 1 | 414 | 0.0024 | -11 | c.382 others(18): Show |
p.Ala others(5): Show |
HOXB5 | ENSG00000120075.6 | transcript | ENST00000239151.6 | protein_coding | 1/2 | 489/1859 | 382/810 | 128/269 | chr17 | TogoVar | ||
HOXC9_chr12_53995161_54008337 | 54000179 | C | CCCCGTTA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0002 | 1 | 342 | 0.0029 | 11 | c.-9_ others(15): Show |
p.Met others(3): Show |
HOXC9 | ENSG00000180806.5 | transcript | ENST00000303450.5 | protein_coding | 1/2 | 31/1474 | 3/783 | 1/260 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
HOXD8_chr2_176124705_176137695 | 176130381 | CGTGAACC others(6): Show |
C | frameshift_variant | HIGH | NA18959.hp2 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0001 | 1 | 400 | 0.0025 | -13 | c.16_ others(18): Show |
p.Val others(3): Show |
HOXD8 | ENSG00000175879.9 | transcript | ENST00000313173.6 | protein_coding | 1/2 | 678/2618 | 16/873 | 6/290 | chr2 | TogoVar | ||
HPRT1_chrX_134455165_134505668 | 134475325 | TC | T | frameshift_variant | HIGH | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 276 | 0.0036 | -1 | c.281 others(4): Show |
p.Pro others(4): Show |
HPRT1 | ENSG00000165704.15 | transcript | ENST00000298556.8 | protein_coding | 3/9 | 428/1395 | 281/657 | 94/218 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
HPR_chr16_72058226_72082246 | 72075061 | A | ATTCTTCT others(16168): Show |
frameshift_variant others(1): Show |
HIGH | HG02818.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0091 | 1 | 412 | 0.0024 | 16175 | c.466 others(16182): Show |
p.Ala others(5): Show |
HPR | ENSG00000261701.9 | transcript | ENST00000540303.7 | protein_coding | 5/5 | 497/1242 | 467/1047 | 156/348 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
HRCT1_chr9_35901202_35912136 | 35906604 | C | CCCGCCAC others(156): Show |
frameshift_variant | HIGH | HG03710.hp2 | a0000 | a0000c0074 | a0000c0074t0001 | a0000c0074t0001g0000 | 1 | 430 | 0.0023 | 163 | c.319 others(170): Show |
p.His others(5): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 406/935 | 320/348 | 107/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11988): Show |
frameshift_variant others(1): Show |
HIGH | NA19089.hp2 | a0001 | a0001c0104 | a0001c0104t0001 | a0001c0104t0001g0111 | 1 | 418 | 0.0024 | 11995 | c.837 others(12004): Show |
p.Gln others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213336 | C | CAG | frameshift_variant | HIGH | HG03669.hp2 NA18947.hp1 NA19043.hp2 others(5): Show |
a0001 | a0001c0034a0001c0061a0001c0062others(4): Show | a0001c0034t0001a0001c0061t0001a0001c0062t0001others(4): Show | a0001c0034t0001g0022a0001c0061t0001g0140a0001c0062t0001g0141others(4): Show | 8 | 418 | 0.0191 | 2 | c.829 others(11): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8368/9629 | 8292/8553 | 2764/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(14802): Show |
frameshift_variant | HIGH | HG03669.hp2 | a0001 | a0001c0143 | a0001c0143t0001 | a0001c0143t0001g0154 | 1 | 418 | 0.0024 | 14809 | c.828 others(14818): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(10926): Show |
frameshift_variant others(1): Show |
HIGH | NA19077.hp1 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0143 | 1 | 418 | 0.0024 | 10933 | c.828 others(10942): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(10926): Show |
frameshift_variant | HIGH | NA19064.hp2 NA19085.hp1 |
a0001 | a0001c0061a0001c0062 | a0001c0061t0001a0001c0062t0001 | a0001c0061t0001g0140a0001c0062t0001g0141 | 2 | 418 | 0.0048 | 10933 | c.828 others(10942): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(15513): Show |
frameshift_variant | HIGH | NA19083.hp2 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0142 | 1 | 418 | 0.0024 | 15520 | c.828 others(15529): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(7749): Show |
frameshift_variant | HIGH | NA18947.hp1 | a0001 | a0001c0134 | a0001c0134t0001 | a0001c0134t0001g0145 | 1 | 418 | 0.0024 | 7756 | c.828 others(7765): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(1401): Show |
frameshift_variant | HIGH | NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0022 | 2 | 418 | 0.0048 | 1408 | c.828 others(1417): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152213781 | A | ACCCCTAG others(1404): Show |
frameshift_variant others(1): Show |
HIGH | NA18988.hp1 | a0001 | a0001c0201 | a0001c0201t0002 | a0001c0201t0002g0214 | 1 | 418 | 0.0024 | 1411 | c.784 others(1420): Show |
p.Glu others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7923/9629 | 7847/8553 | 2616/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152214060 | A | AGAAGACT others(1402): Show |
frameshift_variant others(1): Show |
HIGH | NA18982.hp1 | a0018 | a0018c0055 | a0018c0055t0002 | a0018c0055t0002g0196 | 1 | 418 | 0.0024 | 1409 | c.756 others(1418): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7644/9629 | 7568/8553 | 2523/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152217566 | C | CAG | frameshift_variant | HIGH | HG02080.hp1 HG03453.hp1 NA18988.hp2 others(2): Show |
a0001 | a0001c0031a0001c0137a0001c0165others(1): Show | a0001c0031t0001a0001c0137t0001a0001c0165t0001others(1): Show | a0001c0031t0001g0036a0001c0137t0001g0148a0001c0165t0001g0056others(1): Show | 5 | 418 | 0.0120 | 2 | c.406 others(11): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4138/9629 | 4062/8553 | 1354/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152217570 | C | CCTGTTGG others(699): Show |
frameshift_variant | HIGH | HG03453.hp1 | a0001 | a0001c0165 | a0001c0165t0001 | a0001c0165t0001g0056 | 1 | 418 | 0.0024 | 706 | c.405 others(715): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4134/9629 | 4058/8553 | 1353/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152217570 | C | CCTGTTGG others(699): Show |
frameshift_variant | HIGH | HG02080.hp1 | a0001 | a0001c0185 | a0001c0185t0001 | a0001c0185t0001g0073 | 1 | 418 | 0.0024 | 706 | c.405 others(715): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4134/9629 | 4058/8553 | 1353/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152217570 | C | CCTGTTGG others(699): Show |
frameshift_variant | HIGH | NA18988.hp2 NA19082.hp2 NA19084.hp1 |
a0001 | a0001c0031a0001c0137 | a0001c0031t0001a0001c0137t0001 | a0001c0031t0001g0036a0001c0137t0001g0148 | 3 | 418 | 0.0072 | 706 | c.405 others(715): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4134/9629 | 4058/8553 | 1353/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152218244 | C | CGTGGCCT others(16216): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp2 | a0001 | a0001c0137 | a0001c0137t0001 | a0001c0137t0001g0148 | 1 | 418 | 0.0024 | 16223 | c.338 others(16232): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3460/9629 | 3384/8553 | 1128/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152218966 | CCAGATCC others(13): Show |
C | frameshift_variant | HIGH | HG03654.hp2 NA20905.hp2 |
a0001 | a0001c0038 | a0001c0038t0003 | a0001c0038t0003g0041 | 2 | 418 | 0.0048 | -20 | c.264 others(29): Show |
p.Arg others(5): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 2738/9629 | 2643/8553 | 881/2850 | chr1 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132956942 | A | AC | frameshift_variant | HIGH | NA18965.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 1 | 201 | 0.0050 | 1 | c.812 others(4): Show |
p.Lys others(5): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/5 | 839/4173 | 812/1938 | 271/645 | chrX | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132957038 | G | GC | frameshift_variant | HIGH | NA18965.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 1 | 201 | 0.0050 | 1 | c.716 others(4): Show |
p.Thr others(5): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/5 | 743/4173 | 716/1938 | 239/645 | chrX | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132957188 | CG | C | frameshift_variant | HIGH | NA18965.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 1 | 201 | 0.0050 | -1 | c.566 others(4): Show |
p.Pro others(5): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/5 | 593/4173 | 566/1938 | 189/645 | chrX | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132957262 | CA | C | frameshift_variant | HIGH | NA18965.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 1 | 201 | 0.0050 | -1 | c.492 others(4): Show |
p.Phe others(5): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/5 | 519/4173 | 492/1938 | 164/645 | chrX | TogoVar | ||
HSD17B10_chrX_53426261_53439370 | 53431455 | G | GA | frameshift_variant | HIGH | NA18974.hp1 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0008 | 1 | 280 | 0.0036 | 1 | c.734 others(4): Show |
p.Leu others(5): Show |
HSD17B10 | ENSG00000072506.14 | transcript | ENST00000168216.11 | protein_coding | 6/6 | 759/954 | 734/786 | 245/261 | chrX | TogoVar | ||
HSD17B10_chrX_53426261_53439370 | 53431871 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0015 | 1 | 280 | 0.0036 | 1 | c.521 others(4): Show |
p.Ile others(5): Show |
HSD17B10 | ENSG00000072506.14 | transcript | ENST00000168216.11 | protein_coding | 5/6 | 546/954 | 521/786 | 174/261 | chrX | TogoVar | ||
HSD17B10_chrX_53426261_53439370 | 53433812 | T | TC | frameshift_variant | HIGH | NA19058.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0017 | 1 | 280 | 0.0036 | 1 | c.101 others(4): Show |
p.Ala others(4): Show |
HSD17B10 | ENSG00000072506.14 | transcript | ENST00000168216.11 | protein_coding | 2/6 | 126/954 | 101/786 | 34/261 | chrX | TogoVar | ||
HSD17B13_chr4_87298794_87327882 | 87313944 | CG | C | frameshift_variant | HIGH | HG00639.hp2 HG01884.hp1 HG02257.hp1 others(25): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(2): Show | a0002c0002t0001g0038a0002c0002t0001g0056a0002c0002t0001g0180others(19): Show | 28 | 442 | 0.0634 | -1 | c.573 others(4): Show |
p.Ala others(5): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 5/7 | 614/2368 | 573/903 | 191/300 | chr4 | TogoVar | ||
HSF4_chr16_67159745_67174941 | 67167490 | A | AATTTGGG others(4): Show |
frameshift_variant | HIGH | NA19055.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 266 | 0.0038 | 11 | c.747 others(18): Show |
p.Ser others(5): Show |
HSF4 | ENSG00000102878.18 | transcript | ENST00000521374.6 | protein_coding | 8/13 | 825/1702 | 758/1479 | 253/492 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
HSFX1_chrX_149769068_149781867 | 149774921 | G | GC | frameshift_variant | HIGH | NA18966.hp1 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0005 | 1 | 253 | 0.0040 | 1 | c.241 others(4): Show |
p.His others(4): Show |
HSFX1 | ENSG00000171116.7 | transcript | ENST00000370416.4 | protein_coding | 1/2 | 856/1963 | 242/1272 | 81/423 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
HSFX1_chrX_149769068_149781867 | 149775020 | G | GTCCATCT others(10): Show |
frameshift_variant others(1): Show |
HIGH | HG02683.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0009 | 1 | 253 | 0.0040 | 17 | c.347 others(24): Show |
p.Trp others(5): Show |
HSFX1 | ENSG00000171116.7 | transcript | ENST00000370416.4 | protein_coding | 1/2 | 962/1963 | 348/1272 | 116/423 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
HSFX1_chrX_149769068_149781867 | 149775035 | T | TG | frameshift_variant | HIGH | HG02683.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0009 | 1 | 253 | 0.0040 | 1 | c.355 others(4): Show |
p.Asp others(5): Show |
HSFX1 | ENSG00000171116.7 | transcript | ENST00000370416.4 | protein_coding | 1/2 | 970/1963 | 356/1272 | 119/423 | INFO_REALIGN_3_PRIME | chrX | TogoVar |