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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPPK1_chr8_143852324_143883467 | 143862159 | G | GGGC | conservative_inframe_insertion | MODERATE | HG00741.hp1 HG01070.hp1 HG01071.hp2 others(9): Show |
a0014a0054a0089others(7): Show | a0014c0044a0014c0280a0054c0340others(8): Show | a0014c0044t0002a0014c0280t0006a0054c0340t0027others(8): Show | a0014c0044t0002g0018a0014c0280t0006g0379a0054c0340t0027g0045others(8): Show | 12 | 424 | 0.0283 | 3 | c.110 others(14): Show |
p.Ala others(7): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11169/16005 | 11094/15267 | 3698/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862162 | C | CGGCGGCG others(6401): Show |
stop_gained others(1): Show |
HIGH | HG02109.hp1 | a0073 | a0073c0339 | a0073c0339t0009 | a0073c0339t0009g0039 | 1 | 424 | 0.0024 | 6408 | c.110 others(6419): Show |
p.Ala others(6423): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11166/16005 | 11091/15267 | 3697/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(4763): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 | a0097 | a0097c0330 | a0097c0330t0004 | a0097c0330t0004g0273 | 1 | 424 | 0.0024 | 4770 | c.110 others(4781): Show |
p.Thr others(4785): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(19118): Show |
conservative_inframe_insertion | MODERATE | HG02630.hp1 | a0121 | a0121c0333 | a0121c0333t0004 | a0121c0333t0004g0253 | 1 | 424 | 0.0024 | 19125 | c.110 others(19136): Show |
p.Thr others(19140): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(7949): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp1 | a0123 | a0123c0331 | a0123c0331t0004 | a0123c0331t0004g0251 | 1 | 424 | 0.0024 | 7956 | c.110 others(7967): Show |
p.Thr others(7971): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(9542): Show |
conservative_inframe_insertion | MODERATE | HG03471.hp2 | a0070 | a0070c0145 | a0070c0145t0001 | a0070c0145t0001g0236 | 1 | 424 | 0.0024 | 9549 | c.110 others(9560): Show |
p.Thr others(9564): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(9542): Show |
conservative_inframe_insertion | MODERATE | HG03225.hp1 | a0069 | a0069c0151 | a0069c0151t0004 | a0069c0151t0004g0052 | 1 | 424 | 0.0024 | 9549 | c.110 others(9560): Show |
p.Thr others(9564): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862296 | G | GGCCGGGC others(25517): Show |
conservative_inframe_insertion | MODERATE | NA21309.hp1 | a0100 | a0100c0049 | a0100c0049t0010 | a0100c0049t0010g0040 | 1 | 424 | 0.0024 | 25524 | c.109 others(25535): Show |
p.Arg others(25539): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11032/16005 | 10957/15267 | 3653/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862500 | C | CGCAGGGC others(6365): Show |
conservative_inframe_insertion | MODERATE | HG02280.hp2 HG02630.hp2 |
a0061a0062 | a0061c0157a0062c0156 | a0061c0157t0004a0062c0156t0004 | a0061c0157t0004g0237a0062c0156t0004g0241 | 2 | 424 | 0.0047 | 6372 | c.107 others(6383): Show |
p.Leu others(6387): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 10828/16005 | 10753/15267 | 3585/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863754 | T | TGCGGGCG others(5): Show |
conservative_inframe_insertion | MODERATE | HG01515.hp1 | a0280 | a0280c0134 | a0280c0134t0006 | a0280c0134t0006g0044 | 1 | 424 | 0.0024 | 12 | c.949 others(21): Show |
p.Arg others(27): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9574/16005 | 9499/15267 | 3167/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863761 | G | GGGCGGCA others(5): Show |
conservative_inframe_insertion | MODERATE | NA18971.hp2 NA19054.hp1 |
a0217a0286 | a0217c0267a0286c0061 | a0217c0267t0002a0286c0061t0002 | a0217c0267t0002g0130a0286c0061t0002g0315 | 2 | 424 | 0.0047 | 12 | c.949 others(21): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 9492/15267 | 3164/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863761 | G | GGGCGGCG others(2): Show |
conservative_inframe_insertion | MODERATE | HG01106.hp1 HG01109.hp2 HG01175.hp2 others(22): Show |
a0065a0066a0067others(22): Show | a0065c0149a0066c0148a0067c0147others(22): Show | a0065c0149t0002a0066c0148t0007a0067c0147t0002others(22): Show | a0065c0149t0002g0219a0066c0148t0007g0218a0067c0147t0002g0217others(22): Show | 25 | 424 | 0.0590 | 9 | c.948 others(18): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 9492/15267 | 3164/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863761 | G | GGGCGGCG others(5): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
a0008a0009a0021others(67): Show | a0008c0017a0008c0021a0009c0174others(79): Show | a0008c0017t0002a0008c0021t0002a0009c0174t0014others(81): Show | a0008c0017t0002g0014a0008c0021t0002g0015a0009c0174t0014g0357others(82): Show | 91 | 424 | 0.2146 | 12 | c.948 others(21): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 9492/15267 | 3164/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(11162): Show |
conservative_inframe_insertion | MODERATE | NA20129.hp2 | a0114 | a0114c0173 | a0114c0173t0001 | a0114c0173t0001g0064 | 1 | 424 | 0.0024 | 11169 | c.948 others(11178): Show |
p.Ala others(11184): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(12773): Show |
conservative_inframe_insertion | MODERATE | HG02300.hp1 | a0224 | a0224c0204 | a0224c0204t0005 | a0224c0204t0005g0073 | 1 | 424 | 0.0024 | 12780 | c.948 others(12789): Show |
p.Ala others(12795): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(6383): Show |
conservative_inframe_insertion | MODERATE | HG03130.hp1 | a0115 | a0115c0172 | a0115c0172t0001 | a0115c0172t0001g0221 | 1 | 424 | 0.0024 | 6390 | c.948 others(6399): Show |
p.Ala others(6405): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(2): Show |
conservative_inframe_insertion | MODERATE | HG02027.hp1 HG02257.hp2 HG02258.hp1 others(12): Show |
a0025a0063a0069others(12): Show | a0025c0162a0063c0159a0069c0151others(12): Show | a0025c0162t0001a0063c0159t0004a0069c0151t0004others(12): Show | a0025c0162t0001g0033a0063c0159t0004g0059a0069c0151t0004g0052others(12): Show | 15 | 424 | 0.0354 | 9 | c.948 others(18): Show |
p.Ala others(24): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143864126 | C | CCGGCCT | conservative_inframe_insertion | MODERATE | HG02129.hp2 HG02523.hp2 NA18943.hp2 others(1): Show |
a0154a0155a0156others(1): Show | a0154c0291a0155c0292a0156c0290others(1): Show | a0154c0291t0002a0155c0292t0002a0156c0290t0002others(1): Show | a0154c0291t0002g0193a0155c0292t0002g0186a0156c0290t0002g0185others(1): Show | 4 | 424 | 0.0094 | 6 | c.912 others(15): Show |
p.Glu others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9202/16005 | 9127/15267 | 3043/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865000 | C | CCGAGTCC others(1586): Show |
conservative_inframe_insertion | MODERATE | HG02886.hp1 HG02965.hp1 HG02970.hp1 |
a0011 | a0011c0007 | a0011c0007t0001 | a0011c0007t0001g0005 | 3 | 424 | 0.0071 | 1593 | c.825 others(1602): Show |
p.Ser others(1608): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 8328/16005 | 8253/15267 | 2751/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865360 | C | CGGCGGCG others(4784): Show |
conservative_inframe_insertion | MODERATE | NA18979.hp2 | a0248 | a0248c0109 | a0248c0109t0005 | a0248c0109t0005g0257 | 1 | 424 | 0.0024 | 4791 | c.789 others(4800): Show |
p.Ala others(4806): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7968/16005 | 7893/15267 | 2631/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865758 | T | TGGGCCTG others(3170): Show |
conservative_inframe_insertion | MODERATE | HG03540.hp2 | a0225 | a0225c0315 | a0225c0315t0003 | a0225c0315t0003g0139 | 1 | 424 | 0.0024 | 3177 | c.749 others(3186): Show |
p.Ala others(3192): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7570/16005 | 7495/15267 | 2499/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865946 | G | ACGCAGGG others(1583): Show |
conservative_inframe_insertion | MODERATE | HG00621.hp1 | a0243 | a0243c0115 | a0243c0115t0013 | a0243c0115t0013g0297 | 1 | 424 | 0.0024 | 1590 | c.730 others(1599): Show |
p.Arg others(1605): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7383/16005 | 7308/15267 | 2436/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866194 | T | TGTGCACG others(4808): Show |
conservative_inframe_insertion | MODERATE | HG01099.hp2 | a0130 | a0130c0283 | a0130c0283t0006 | a0130c0283t0006g0220 | 1 | 424 | 0.0024 | 4815 | c.705 others(4824): Show |
p.His others(4830): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7134/16005 | 7059/15267 | 2353/5088 | chr8 | TogoVar | ||
ERICH1_chr8_659200_736224 | 673595 | C | CGTCCGCA others(113): Show |
conservative_inframe_insertion | MODERATE | HG02109.hp2 HG02647.hp2 HG03041.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0078a0003c0004t0002g0291a0003c0004t0002g0322others(1): Show | 4 | 378 | 0.0106 | 120 | c.637 others(127): Show |
p.Asp others(133): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/6 | 819/1798 | 756/1332 | 252/443 | chr8 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150703732 | A | ACCACCTC others(14): Show |
conservative_inframe_insertion | MODERATE | HG01981.hp2 | a0002 | a0002c0029 | a0002c0029t0001 | a0002c0029t0001g0137 | 1 | 348 | 0.0029 | 21 | c.146 others(28): Show |
p.Glu others(11): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 188/2021 | 166/1992 | 56/663 | chr3 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150703735 | A | ACCTCCT | conservative_inframe_insertion | MODERATE | HG02109.hp1 HG02559.hp2 HG02717.hp1 others(6): Show |
a0006a0034a0035 | a0006c0008a0034c0040a0035c0039 | a0006c0008t0001a0034c0040t0001a0035c0039t0001 | a0006c0008t0001g0326a0006c0008t0001g0327a0006c0008t0001g0328others(6): Show | 9 | 348 | 0.0259 | 6 | c.158 others(13): Show |
p.Glu others(11): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 185/2021 | 163/1992 | 55/663 | chr3 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150703735 | A | ACCTCCTC others(2): Show |
conservative_inframe_insertion | MODERATE | HG01192.hp2 HG02145.hp2 HG02258.hp2 others(13): Show |
a0009a0010a0011others(1): Show | a0009c0012a0010c0011a0011c0013others(1): Show | a0009c0012t0001a0010c0011t0001a0010c0011t0002others(3): Show | a0009c0012t0001g0315a0009c0012t0001g0319a0009c0012t0001g0320others(13): Show | 16 | 348 | 0.0460 | 9 | c.155 others(16): Show |
p.Glu others(11): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 185/2021 | 163/1992 | 55/663 | chr3 | TogoVar | ||
ERICH6_chr3_150654885_150708920 | 150703783 | T | TCCTCCTC others(29): Show |
conservative_inframe_insertion | MODERATE | NA18970.hp1 | a0031 | a0031c0037 | a0031c0037t0001 | a0031c0037t0001g0308 | 1 | 348 | 0.0029 | 36 | c.115 others(43): Show |
p.Glu others(47): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 137/2021 | 115/1992 | 39/663 | chr3 | TogoVar | ||
ERN1_chr17_64034142_64135144 | 64055860 | A | AGCT | conservative_inframe_insertion | MODERATE | HG03209.hp2 HG03516.hp2 |
a0005 | a0005c0011 | a0005c0011t0012 | a0005c0011t0012g0017a0005c0011t0012g0124 | 2 | 234 | 0.0086 | 3 | c.148 others(12): Show |
p.Gln others(6): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 13/22 | 1601/7895 | 1486/2934 | 496/977 | chr17 | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104250317 | T | TGGGTGGC others(20): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp1 HG02145.hp1 HG02559.hp2 others(6): Show |
a0007a0014 | a0007c0007a0014c0014 | a0007c0007t0002a0014c0014t0002 | a0007c0007t0002g0008a0014c0014t0002g0021 | 9 | 313 | 0.0288 | 27 | c.113 others(36): Show |
p.Pro others(40): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1215/1495 | 1131/1221 | 377/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104250317 | T | TGGGTGGC others(20): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00735.hp1 HG01074.hp1 others(77): Show |
a0002a0018a0023others(2): Show | a0002c0002a0018c0034a0023c0022others(2): Show | a0002c0002t0001a0018c0034t0001a0023c0022t0001others(2): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0011others(11): Show | 80 | 313 | 0.2556 | 27 | c.110 others(36): Show |
p.Pro others(40): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1215/1495 | 1131/1221 | 377/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104250409 | G | GGCGCCAT others(20): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 HG00639.hp1 HG01192.hp1 others(14): Show |
a0006a0011a0013others(1): Show | a0006c0006a0011c0012a0013c0015others(1): Show | a0006c0006t0001a0006c0006t0005a0011c0012t0002others(2): Show | a0006c0006t0001g0007a0006c0006t0001g0030a0006c0006t0005g0072others(4): Show | 17 | 313 | 0.0543 | 27 | c.101 others(36): Show |
p.Arg others(13): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1123/1495 | 1039/1221 | 347/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104250409 | G | GGCGCCAT others(47): Show |
conservative_inframe_insertion | MODERATE | HG01891.hp1 | a0025 | a0025c0025 | a0025c0025t0001 | a0025c0025t0001g0032 | 1 | 313 | 0.0032 | 54 | c.103 others(63): Show |
p.Ala others(67): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1123/1495 | 1039/1221 | 347/406 | chrX | TogoVar | ||
EVPL_chr17_76001845_76032306 | 76018928 | A | AGTCGCAG others(5): Show |
conservative_inframe_insertion | MODERATE | HG01943.hp1 | a0023 | a0023c0032 | a0023c0032t0002 | a0023c0032t0002g0086 | 1 | 404 | 0.0025 | 12 | c.125 others(21): Show |
p.Asp others(25): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 11/22 | 1377/6468 | 1269/6102 | 423/2033 | chr17 | TogoVar | ||
EXOC8_chr1_231327753_231342852 | 231337730 | A | ACATCGC | conservative_inframe_insertion | MODERATE | HG02055.hp2 HG02486.hp2 HG02647.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0000 | 5 | 388 | 0.0129 | 6 | c.10_ others(11): Show |
p.Met others(15): Show |
EXOC8 | ENSG00000116903.7 | transcript | ENST00000366645.1 | protein_coding | 1/1 | 122/5100 | 15/2178 | 5/725 | chr1 | TogoVar | ||
F8A1_chrX_154881355_154893061 | 154886788 | G | GGCCGCC | conservative_inframe_insertion | MODERATE | HG02027.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0000 | 1 | 325 | 0.0031 | 6 | c.424 others(13): Show |
p.Ala others(13): Show |
F8A1 | ENSG00000288722.1 | transcript | ENST00000610495.2 | protein_coding | 1/1 | 450/1707 | 430/1116 | 144/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FADS1_chr11_61794627_61822003 | 61816605 | G | GCCGGCGG others(5): Show |
conservative_inframe_insertion | MODERATE | NA18960.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0097 | 1 | 272 | 0.0037 | 12 | c.313 others(19): Show |
p.Arg others(25): Show |
FADS1 | ENSG00000149485.19 | transcript | ENST00000350997.12 | protein_coding | 1/12 | 398/4364 | 324/1506 | 108/501 | chr11 | TogoVar | ||
FAM104A_chr17_73202365_73237394 | 73209719 | A | ATGC | conservative_inframe_insertion | MODERATE | HG01109.hp1 HG02145.hp1 HG02976.hp1 others(1): Show |
a0002 | a0002c0004a0002c0005 | a0002c0004t0001a0002c0005t0001 | a0002c0004t0001g0188a0002c0004t0001g0191a0002c0004t0001g0203others(1): Show | 4 | 400 | 0.0100 | 3 | c.431 others(10): Show |
p.Ser others(6): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 4/4 | 521/2876 | 433/624 | 145/207 | chr17 | TogoVar | ||
FAM120B_chr6_170301758_170412067 | 170318607 | A | ACCCTGAA others(29): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00558.hp2 HG00673.hp2 others(66): Show |
a0002a0003a0011 | a0002c0003a0003c0004a0011c0011 | a0002c0003t0001a0002c0003t0002a0002c0003t0007others(6): Show | a0002c0003t0001g0134a0002c0003t0002g0004a0002c0003t0002g0106others(64): Show | 69 | 289 | 0.2388 | 36 | c.122 others(45): Show |
p.Pro others(13): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 2/11 | 1367/5155 | 1261/2733 | 421/910 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
FAM186A_chr12_50322309_50401609 | 50352003 | G | GCCTGCAC others(101): Show |
conservative_inframe_insertion | MODERATE | HG01257.hp1 | a0031 | a0031c0041 | a0031c0041t0001 | a0031c0041t0001g0299 | 1 | 332 | 0.0030 | 108 | c.482 others(117): Show |
p.Gln others(123): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/8 | 4953/7255 | 4828/7056 | 1610/2351 | chr12 | TogoVar | ||
FAM186A_chr12_50322309_50401609 | 50352003 | G | GCCTGCGC others(101): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(210): Show |
a0001a0002a0006others(14): Show | a0001c0001a0001c0039a0001c0042others(21): Show | a0001c0001t0001a0001c0039t0001a0001c0042t0001others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0012others(210): Show | 213 | 332 | 0.6416 | 108 | c.482 others(117): Show |
p.Gln others(123): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/8 | 4953/7255 | 4828/7056 | 1610/2351 | chr12 | TogoVar | ||
FAM186A_chr12_50322309_50401609 | 50352213 | C | CCCAGGGC others(29): Show |
conservative_inframe_insertion | MODERATE | HG03209.hp1 | a0029 | a0029c0025 | a0029c0025t0001 | a0029c0025t0001g0243 | 1 | 332 | 0.0030 | 36 | c.461 others(45): Show |
p.Leu others(51): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/8 | 4743/7255 | 4618/7056 | 1540/2351 | chr12 | TogoVar | ||
FAM187A_chr17_44898433_44910390 | 44903871 | G | GAGT | conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(94): Show |
a0002a0003a0005 | a0002c0002a0002c0006a0002c0011others(4): Show | a0002c0002t0002a0002c0006t0002a0002c0011t0002others(5): Show | a0002c0002t0002g0000a0002c0006t0002g0000a0002c0011t0002g0000others(5): Show | 97 | 428 | 0.2266 | 3 | c.42_ others(8): Show |
p.Gly others(14): Show |
FAM187A | ENSG00000214447.6 | transcript | ENST00000331733.5 | protein_coding | 1/1 | 440/1958 | 43/1242 | 15/413 | chr17 | TogoVar | ||
FAM246A_chr22_21355601_21366299 | 21360773 | C | CCGCGGGG others(5): Show |
conservative_inframe_insertion | MODERATE | HG03834.hp1 | a0012 | a0012c0017 | a0012c0017t0000 | a0012c0017t0000g0000 | 1 | 416 | 0.0024 | 12 | c.515 others(19): Show |
p.Ala others(13): Show |
FAM246A | ENSG00000286102.1 | transcript | ENST00000652479.1 | protein_coding | 1/1 | 526/699 | 526/699 | 176/232 | chr22 | TogoVar | ||
FAM246A_chr22_21355601_21366299 | 21360825 | A | ACGG | conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(137): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0003a0004c0004others(3): Show | a0002c0002t0000a0003c0003t0000a0004c0004t0000others(3): Show | a0002c0002t0000g0000a0003c0003t0000g0000a0004c0004t0000g0000others(3): Show | 140 | 416 | 0.3365 | 3 | c.472 others(10): Show |
p.Pro others(6): Show |
FAM246A | ENSG00000286102.1 | transcript | ENST00000652479.1 | protein_coding | 1/1 | 474/699 | 474/699 | 158/232 | chr22 | TogoVar | ||
FAM47A_chrX_34124752_34137314 | 34130688 | C | CGAGACTG others(32): Show |
conservative_inframe_insertion | MODERATE | HG02818.hp2 HG03195.hp1 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0000 | 2 | 324 | 0.0062 | 39 | c.155 others(48): Show |
p.Leu others(52): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 1626/2563 | 1590/2376 | 530/791 | chrX | TogoVar | ||
FAM83G_chr17_18963789_19009764 | 18971372 | C | CGGT | conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(241): Show |
a0001a0003a0007others(6): Show | a0001c0001a0001c0005a0001c0019others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(192): Show | 244 | 378 | 0.6455 | 3 | c.245 others(12): Show |
p.Asp others(16): Show |
FAM83G | ENSG00000188522.16 | transcript | ENST00000388995.11 | protein_coding | 6/6 | 2642/5226 | 2458/2472 | 820/823 | chr17 | TogoVar | ||
FAM90A23_chr8_7574644_7587653 | 7579810 | G | GCCAGGAG others(5438): Show |
stop_gained others(1): Show |
HIGH | NA19087.hp1 | a0021 | a0021c0027 | a0021c0027t0000 | a0021c0027t0000g0031 | 1 | 142 | 0.0070 | 5445 | c.122 others(5454): Show |
p.Leu others(5458): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 4/4 | 1228/1395 | 1228/1395 | 410/464 | chr8 | TogoVar | ||
FAM98C_chr19_38398093_38414084 | 38408861 | C | CAAG | conservative_inframe_insertion | MODERATE | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(79): Show |
a0002a0003a0005others(2): Show | a0002c0003a0003c0004a0003c0012others(3): Show | a0002c0003t0002a0002c0003t0003a0003c0004t0001others(7): Show | a0002c0003t0002g0003a0002c0003t0002g0005a0002c0003t0002g0013others(20): Show | 82 | 380 | 0.2158 | 3 | c.104 others(12): Show |
p.Lys others(6): Show |
FAM98C | ENSG00000130244.13 | transcript | ENST00000252530.10 | protein_coding | 8/8 | 1109/1313 | 1048/1050 | 350/349 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
FAM9A_chrX_8785795_8806383 | 8795304 | T | TCTG | conservative_inframe_insertion | MODERATE | NA18966.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0073 | 1 | 303 | 0.0033 | 3 | c.602 others(10): Show |
p.Ala others(6): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 7/10 | 715/1519 | 604/999 | 202/332 | chrX | TogoVar |