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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COQ10A_chr12_56261942_56275966 | 56267121 | G | T | start_lost | HIGH | HG00642.hp1 HG01106.hp1 HG01516.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 17 | 330 | 0.0515 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
COQ10A | ENSG00000135469.14 | transcript | ENST00000308197.10 | protein_coding | 1/5 | 180/1570 | 3/744 | 1/247 | chr12 | TogoVar | |||
CTAG1B_chrX_154612609_154624282 | 154619050 | CCGGCCCC others(5225): Show |
C | frameshift_variant others(1): Show |
HIGH | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | -5232 | c.-50 others(9): Show |
p.Met others(3): Show |
CTAG1B | ENSG00000184033.14 | transcript | ENST00000328435.3 | protein_coding | 1/3 | 232/759 | 1/543 | 1/180 | chrX | TogoVar | |||
CTBP2_chr10_124979317_125033071 | 125027759 | T | C | start_lost | HIGH | HG02886.hp1 | a0020 | a0020c0048 | a0020c0048t0005 | a0020c0048t0005g0345 | 1 | 378 | 0.0026 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 1/9 | 313/8471 | 1/2958 | 1/985 | chr10 | TogoVar | |||
CTBS_chr1_84544611_84579440 | 84574415 | T | C | start_lost | HIGH | NA19003.hp1 NA19083.hp2 |
a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0043 | 2 | 338 | 0.0059 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 1/7 | 26/6571 | 1/1158 | 1/385 | chr1 | TogoVar | |||
CUTA_chr6_33411442_33423107 | 33418000 | T | C | start_lost | HIGH | NA19004.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0017 | 1 | 338 | 0.0030 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
CUTA | ENSG00000112514.18 | transcript | ENST00000488034.6 | protein_coding | 1/6 | 108/855 | 1/540 | 1/179 | chr6 | TogoVar | |||
CXCL16_chr17_4728533_4744928 | 4739338 | A | G | start_lost | HIGH | NA18987.hp2 NA18992.hp2 NA19065.hp2 |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0015 | 3 | 436 | 0.0069 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
CXCL16 | ENSG00000161921.17 | transcript | ENST00000293778.12 | protein_coding | 1/6 | 591/2324 | 2/765 | 1/254 | chr17 | TogoVar | |||
CYP2C19_chr10_94757681_94860547 | 94762706 | A | G | start_lost | HIGH | HG01175.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0174 | 1 | 362 | 0.0028 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 1/9 | 26/4131 | 1/1473 | 1/490 | chr10 | TogoVar | |||
CYP2S1_chr19_41188219_41212539 | 41193242 | GGAGAAGG others(12): Show |
G | frameshift_variant others(1): Show |
HIGH | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | -19 | c.-18 others(24): Show |
p.Met others(3): Show |
CYP2S1 | ENSG00000167600.14 | transcript | ENST00000310054.9 | protein_coding | 1/9 | 29/2612 | 1/1515 | 1/504 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
DCANP1_chr5_135439214_135452348 | 135445852 | ATTCACAT others(1802): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18964.hp2 | a0002 | a0002c0000 | a0002c0000t0028 | a0002c0000t0028g0000 | 1 | 454 | 0.0022 | -1809 | c.-55 others(9): Show |
p.Met others(3): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 1496/3135 | 1/735 | 1/244 | chr5 | TogoVar | |||
DDT_chr22_23966370_23979441 | 23974398 | AGCTCCAG others(10): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18952.hp1 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0030 | 1 | 316 | 0.0032 | -17 | c.-1_ others(22): Show |
p.Met others(3): Show |
DDT | ENSG00000099977.16 | transcript | ENST00000398344.9 | protein_coding | 1/3 | 43/565 | 1/357 | 1/118 | chr22 | TogoVar | |||
DEFB128_chr20_182853_194711 | 189622 | A | T | start_lost | HIGH | HG02896.hp1 NA18906.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0011 | 2 | 468 | 0.0043 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DEFB128 | ENSG00000185982.7 | transcript | ENST00000334391.5 | protein_coding | 1/2 | 90/403 | 2/282 | 1/93 | chr20 | TogoVar | |||
DEFB132_chr20_252724_266096 | 257780 | T | A | start_lost | HIGH | HG01261.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0002 | 1 | 428 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1/2 | 57/2133 | 2/288 | 1/95 | chr20 | TogoVar | |||
DIXDC1_chr11_111932343_112027653 | 111937500 | A | G | start_lost | HIGH | HG03017.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0134 | 1 | 276 | 0.0036 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/20 | 158/5826 | 1/2052 | 1/683 | chr11 | TogoVar | |||
DPPA4_chr3_109321144_109342546 | 109337516 | A | G | start_lost | HIGH | HG01081.hp1 HG01175.hp2 HG01884.hp2 others(22): Show |
a0003 | a0003c0004a0003c0006a0003c0009others(1): Show | a0003c0004t0002a0003c0004t0004a0003c0006t0002others(2): Show | a0003c0004t0002g0017 a0003c0004t0002g0025 a0003c0004t0002g0026 others(16): Show |
25 | 414 | 0.0604 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1/7 | 31/2788 | 2/915 | 1/304 | chr3 | TogoVar | |||
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0174 others(104): Show |
112 | 394 | 0.2843 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
DTWD2_chr5_118831074_118993547 | 118988510 | A | C | start_lost | HIGH | HG02897.hp1 | a0003 | a0003c0005 | a0003c0005t0042 | a0003c0005t0042g0240 | 1 | 240 | 0.0042 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 1/6 | 38/5776 | 2/897 | 1/298 | chr5 | TogoVar | |||
DTWD2_chr5_118831074_118993547 | 118988511 | T | C | start_lost | HIGH | HG02897.hp1 | a0003 | a0003c0005 | a0003c0005t0042 | a0003c0005t0042g0240 | 1 | 240 | 0.0042 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 1/6 | 37/5776 | 1/897 | 1/298 | chr5 | TogoVar | |||
ECRG4_chr2_106060688_106083155 | 106065766 | T | G | start_lost | HIGH | HG03491.hp2 | a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0055 | 1 | 432 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/4 | 79/753 | 2/447 | 1/148 | chr2 | TogoVar | |||
EFCAB5_chr17_29936634_30113452 | 29941799 | G | A | start_lost | HIGH | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show |
a0003 | a0003c0003a0003c0006a0003c0013others(1): Show | a0003c0003t0002a0003c0006t0002a0003c0013t0002others(1): Show | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(20): Show |
23 | 246 | 0.0935 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 166/5103 | 3/4512 | 1/1503 | chr17 | TogoVar | |||
EMB_chr5_50391192_50446288 | 50441150 | A | T | start_lost | HIGH | NA19088.hp1 | a0006 | a0006c0005 | a0006c0005t0006 | a0006c0005t0006g0042 | 1 | 344 | 0.0029 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
EMB | ENSG00000170571.12 | transcript | ENST00000303221.10 | protein_coding | 1/9 | 139/4202 | 2/984 | 1/327 | chr5 | TogoVar | |||
ENTPD8_chr9_137429364_137446357 | 137438284 | A | C | start_lost | HIGH | HG02615.hp1 | a0009 | a0009c0012 | a0009c0012t0004 | a0009c0012t0004g0039 | 1 | 390 | 0.0026 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 2/10 | 94/2130 | 2/1488 | 1/495 | chr9 | TogoVar | |||
ERCC6L2_chr9_95870691_96023447 | 95876040 | T | A | start_lost | HIGH | HG03209.hp2 | a0019 | a0019c0013 | a0019c0013t0078 | a0019c0013t0078g0101 | 1 | 390 | 0.0026 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 1/19 | 350/10245 | 2/4653 | 1/1550 | chr9 | TogoVar | |||
FAM149B1_chr10_73163119_73249504 | 73168308 | T | TGAG | start_lost others(1): Show |
HIGH | HG00735.hp1 HG01243.hp1 HG01891.hp1 others(16): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 others(16): Show |
19 | 232 | 0.0819 | 3 | c.-2_ others(7): Show |
FAM149B1 | ENSG00000138286.15 | transcript | ENST00000242505.11 | protein_coding | 1/14 | 223/5455 | 2/1749 | 1/582 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
FAM149B1_chr10_73163119_73249504 | 73168308 | T | TGAGGAGG others(2): Show |
start_lost others(1): Show |
HIGH | HG02896.hp2 HG02897.hp1 NA19085.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0009a0003c0003t0013 | a0001c0001t0009g0218 a0001c0001t0009g0219 a0003c0003t0013g0184 |
3 | 216 | 0.0139 | 9 | c.-8_ others(13): Show |
FAM149B1 | ENSG00000138286.15 | transcript | ENST00000242505.11 | protein_coding | 1/14 | 223/5455 | 2/1749 | 1/582 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
FAM220A_chr7_6324411_6353967 | 6331130 | CGAGGGGC others(39): Show |
C | frameshift_variant others(1): Show |
HIGH | NA18974.hp1 | a0008 | a0008c0014 | a0008c0014t0018 | a0008c0014t0018g0230 | 1 | 418 | 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 | |||
FAM236B_chrX_72776865_72787660 | 72782540 | AAGGAAGG others(28): Show |
A | frameshift_variant others(1): Show |
HIGH | HG02886.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0009 | 1 | 110 | 0.0091 | -35 | c.-15 others(41): Show |
p.Met others(3): Show |
FAM236B | ENSG00000268994.3 | transcript | ENST00000596535.3 | protein_coding | 1/3 | 120/465 | 1/240 | 1/79 | chrX | TogoVar | |||
FAM237B_chr7_90311807_90326304 | 90319747 | A | T | start_lost | HIGH | HG00738.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0010 | 4 | 406 | 0.0099 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 3/3 | 435/3375 | 2/420 | 1/139 | chr7 | TogoVar | |||
FBXO36_chr2_229917503_230018119 | 229922516 | G | A | start_lost | HIGH | HG00597.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0274 | 1 | 340 | 0.0029 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
FBXO36 | ENSG00000153832.12 | transcript | ENST00000283946.8 | protein_coding | 1/4 | 14/2813 | 3/567 | 1/188 | chr2 | TogoVar | |||
FBXW10_chr17_18739054_18784349 | 18744245 | A | G | start_lost | HIGH | NA18955.hp1 NA19054.hp2 |
a0015 | a0015c0030a0015c0031 | a0015c0030t0001a0015c0031t0003 | a0015c0030t0001g0254 a0015c0031t0003g0217 |
2 | 384 | 0.0052 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
FBXW10 | ENSG00000171931.13 | transcript | ENST00000395665.9 | protein_coding | 1/14 | 192/3401 | 1/3159 | 1/1052 | chr17 | TogoVar | |||
FCGR3B_chr1_161618196_161636176 | 161631093 | A | G | start_lost | HIGH | HG00738.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0050 | 1 | 354 | 0.0028 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
FCGR3B | ENSG00000162747.13 | transcript | ENST00000650385.1 | protein_coding | 1/5 | 84/2103 | 2/702 | 1/233 | chr1 | TogoVar | |||
FN3K_chr17_82730615_82756196 | 82735638 | T | A | start_lost | HIGH | HG03704.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0012 | 1 | 400 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
FN3K | ENSG00000167363.14 | transcript | ENST00000300784.8 | protein_coding | 1/6 | 24/1393 | 2/930 | 1/309 | chr17 | TogoVar | |||
GASK1A_chr3_42974311_43062715 | 42979645 | G | A | start_lost others(1): Show |
HIGH | HG02165.hp2 | a0010 | a0010c0017 | a0010c0017t0003 | a0010c0017t0003g0195 | 1 | 340 | 0.0029 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/5 | 335/3389 | 3/1728 | 1/575 | chr3 | TogoVar | |||
GATA5_chr20_62458497_62480995 | 62475520 | A | C | start_lost | HIGH | HG01884.hp1 | a0006 | a0006c0022 | a0006c0022t0003 | a0006c0022t0003g0049 | 1 | 380 | 0.0026 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 2/7 | 89/2620 | 2/1194 | 1/397 | chr20 | TogoVar | |||
GINS1_chr20_25402673_25453563 | 25407821 | A | G | start_lost | HIGH | HG02083.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0187 | 1 | 358 | 0.0028 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 1/7 | 149/3311 | 1/591 | 1/196 | chr20 | TogoVar | |||
GJC3_chr7_99918266_99934620 | 99929620 | T | C | start_lost | HIGH | NA18978.hp1 NA19000.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0023 | 2 | 390 | 0.0051 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
GJC3 | ENSG00000176402.6 | transcript | ENST00000312891.3 | protein_coding | 1/2 | 1/1119 | 1/840 | 1/279 | chr7 | TogoVar | |||
GLRX2_chr1_193091470_193110414 | 193105381 | A | G | start_lost | HIGH | NA20805.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0028 | 1 | 384 | 0.0026 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
GLRX2 | ENSG00000023572.10 | transcript | ENST00000367439.8 | protein_coding | 1/4 | 34/682 | 2/495 | 1/164 | chr1 | TogoVar | |||
GOLGA8B_chr15_34520095_34588651 | 34535910 | C | G | start_lost | HIGH | NA18997.hp1 | a0022 | a0022c0014 | a0022c0014t0002 | a0022c0014t0002g0041 | 1 | 196 | 0.0051 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
GOLGA8B | ENSG00000215252.12 | transcript | ENST00000683415.1 | protein_coding | 9/24 | 1261/5607 | 3/1812 | 1/603 | chr15 | TogoVar | |||
GSDMB_chr17_39899595_39923635 | 39917315 | A | G | start_lost | HIGH | HG02615.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0055 | 1 | 398 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 2/11 | 118/1584 | 2/1251 | 1/416 | chr17 | TogoVar | |||
GSTM2_chr1_109663057_109680286 | 109668118 | G | A | start_lost | HIGH | HG00609.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0119 | 1 | 354 | 0.0028 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 1/8 | 62/1166 | 3/657 | 1/218 | chr1 | TogoVar | |||
GSTM3_chr1_109728937_109746038 | 109740287 | T | C | start_lost | HIGH | NA19085.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0070 | 1 | 398 | 0.0025 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
GSTM3 | ENSG00000134202.12 | transcript | ENST00000361066.7 | protein_coding | 2/9 | 311/4122 | 1/678 | 1/225 | chr1 | TogoVar | |||
GTF2H3_chr12_123628829_123667604 | 123633862 | G | A | start_lost | HIGH | HG01358.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0109 | 1 | 270 | 0.0037 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
GTF2H3 | ENSG00000111358.14 | transcript | ENST00000543341.7 | protein_coding | 1/13 | 34/3327 | 3/927 | 1/308 | chr12 | TogoVar | |||
H2AC4_chr6_26028092_26038618 | 26033567 | A | G | start_lost | HIGH | HG03688.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 1 | 404 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1/1 | 52/527 | 2/393 | 1/130 | chr6 | TogoVar | |||
H2BC14_chr6_27810022_27820489 | 27815035 | TTTTCCAC others(12): Show |
T | frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0004 | a0004c0002 | a0004c0002t0002 | a0004c0002t0002g0000 | 1 | 378 | 0.0026 | -19 | c.-8_ others(24): Show |
p.Met others(3): Show |
H2BC14 | ENSG00000273703.2 | transcript | ENST00000621112.2 | protein_coding | 1/1 | 15/468 | 1/381 | 1/126 | chr6 | TogoVar | |||
H2BC18_chr1_149806879_149817370 | 149811957 | TGTACTTG others(5406): Show |
T | frameshift_variant others(1): Show |
HIGH | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 364 | 0.0027 | -5413 | c.-50 others(9): Show |
p.Met others(3): Show |
H2BC18 | ENSG00000203814.7 | transcript | ENST00000369167.3 | protein_coding | 1/1 | 413/492 | 1/381 | 1/126 | chr1 | TogoVar | |||
H4C3_chr6_26098933_26109337 | 26103950 | G | A | start_lost | HIGH | HG01975.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0000 | 1 | 406 | 0.0025 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
H4C3 | ENSG00000197061.5 | transcript | ENST00000377803.4 | protein_coding | 1/1 | 18/405 | 3/312 | 1/103 | chr6 | TogoVar | |||
H4C4_chr6_26183710_26194112 | 26189075 | A | T | start_lost | HIGH | NA18950.hp2 NA18969.hp1 NA18984.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 4 | 370 | 0.0108 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
H4C4 | ENSG00000277157.2 | transcript | ENST00000614247.2 | protein_coding | 1/1 | 38/403 | 2/312 | 1/103 | chr6 | TogoVar | |||
H6PD_chr1_9229774_9276337 | 9244919 | CCCCAGGC others(1): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show |
a0001a0002a0018others(1): Show | a0001c0001a0001c0004a0001c0020others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0005others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0053 others(26): Show |
40 | 402 | 0.0995 | -8 | c.-7_ others(12): Show |
p.Met others(3): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 2/5 | 297/9147 | 1/2376 | 1/791 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
HACD1_chr10_17584032_17622374 | 17617339 | T | C | start_lost | HIGH | NA18963.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0302 | 1 | 408 | 0.0025 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 1/7 | 36/2234 | 1/867 | 1/288 | chr10 | TogoVar | |||
HELLS_chr10_94540788_94607099 | 94545923 | T | C | start_lost | HIGH | HG02451.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0321 | 1 | 356 | 0.0028 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 1/22 | 136/3128 | 2/2517 | 1/838 | chr10 | TogoVar | |||
HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show |
a0003 | a0003c0003a0003c0004a0003c0009 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show |
103 | 366 | 0.2814 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | TogoVar |