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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPPK1_chr8_143852324_143883467 | 143862296 | G | GGCCGGGC others(25517): Show |
conservative_inframe_insertion | MODERATE | NA21309.hp1 | a0170 | a0170c0059 | a0170c0059t0010 | a0170c0059t0010g0147 | 1 | 422 | 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 |
a0039 | a0039c0042 | a0039c0042t0004 | a0039c0042t0004g0067 a0039c0042t0004g0071 |
2 | 422 | 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 | a0003 | a0003c0109 | a0003c0109t0006 | a0003c0109t0006g0233 | 1 | 422 | 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 |
a0146a0156 | a0146c0069a0156c0185 | a0146c0069t0002a0156c0185t0002 | a0146c0069t0002g0311 a0156c0185t0002g0172 |
2 | 295 | 0.0068 | 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 |
a0022a0030a0031others(17): Show | a0022c0041a0030c0131a0030c0132others(20): Show | a0022c0041t0002a0022c0041t0007a0030c0131t0009others(21): Show | a0022c0041t0002g0076 a0022c0041t0007g0077 a0030c0131t0009g0250 others(22): Show |
25 | 318 | 0.0786 | 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 |
a0001a0003a0004others(40): Show | a0001c0001a0003c0003a0003c0006others(57): Show | a0001c0001t0002a0003c0003t0002a0003c0006t0002others(66): Show | a0001c0001t0002g0100 a0003c0003t0002g0003 a0003c0003t0002g0336 others(76): Show |
91 | 384 | 0.2370 | 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 | a0042 | a0042c0045 | a0042c0045t0001 | a0042c0045t0001g0103 | 1 | 388 | 0.0026 | 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 | a0094 | a0094c0159 | a0094c0159t0005 | a0094c0159t0005g0243 | 1 | 388 | 0.0026 | 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 | a0042 | a0042c0045 | a0042c0045t0001 | a0042c0045t0001g0125 | 1 | 388 | 0.0026 | 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 |
a0009a0027a0091others(10): Show | a0009c0083a0027c0027a0027c0057others(11): Show | a0009c0083t0005a0027c0027t0010a0027c0057t0010others(11): Show | a0009c0083t0005g0278 a0027c0027t0010g0031 a0027c0057t0010g0229 others(11): Show |
15 | 402 | 0.0373 | 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 |
a0014a0037 | a0014c0013a0037c0049 | a0014c0013t0002a0037c0049t0006 | a0014c0013t0002g0030 a0014c0013t0002g0234 a0037c0049t0006g0091 |
4 | 422 | 0.0095 | 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 |
a0029 | a0029c0019 | a0029c0019t0001 | a0029c0019t0001g0006 | 3 | 422 | 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 | a0149 | a0149c0094 | a0149c0094t0005 | a0149c0094t0005g0154 | 1 | 422 | 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 | a0122 | a0122c0211 | a0122c0211t0003 | a0122c0211t0003g0182 | 1 | 422 | 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 | a0057 | a0057c0100 | a0057c0100t0013 | a0057c0100t0013g0296 | 1 | 406 | 0.0025 | 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 | a0063 | a0063c0195 | a0063c0195t0006 | a0063c0195t0006g0235 | 1 | 422 | 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 | a0003c0004t0001g0077 a0003c0004t0002g0293 a0003c0004t0002g0324 others(1): Show |
4 | 376 | 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 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0137 | 1 | 346 | 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 |
a0005 | a0005c0008a0005c0039a0005c0040 | a0005c0008t0001a0005c0039t0001a0005c0040t0001 | a0005c0008t0001g0326 a0005c0008t0001g0327 a0005c0008t0001g0328 others(6): Show |
9 | 330 | 0.0273 | 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 |
a0004 | a0004c0011a0004c0012a0004c0013others(1): Show | a0004c0011t0001a0004c0011t0002a0004c0012t0001others(3): Show | a0004c0011t0001g0311 a0004c0011t0001g0312 a0004c0011t0001g0323 others(13): Show |
16 | 337 | 0.0475 | 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 | a0016 | a0016c0037 | a0016c0037t0001 | a0016c0037t0001g0308 | 1 | 346 | 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 |
a0007 | a0007c0011 | a0007c0011t0012 | a0007c0011t0012g0018 a0007c0011t0012g0123 |
2 | 232 | 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 |
a0002a0009 | a0002c0007a0009c0013 | a0002c0007t0002a0009c0013t0002 | a0002c0007t0002g0008 a0009c0013t0002g0019 |
9 | 208 | 0.0433 | 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 |
a0002a0020a0022 | a0002c0002a0020c0029a0022c0020 | a0002c0002t0001a0020c0029t0001a0022c0020t0001 | a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0012 others(8): Show |
80 | 279 | 0.2867 | 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 |
a0006a0009a0012 | a0006c0006a0006c0010a0009c0013others(1): Show | a0006c0006t0001a0006c0006t0004a0006c0010t0002others(2): Show | a0006c0006t0001g0007 a0006c0006t0001g0028 a0006c0006t0004g0055 others(4): Show |
17 | 212 | 0.0802 | 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 | a0009 | a0009c0024 | a0009c0024t0001 | a0009c0024t0001g0056 | 1 | 196 | 0.0051 | 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 | a0022 | a0022c0032 | a0022c0032t0002 | a0022c0032t0002g0086 | 1 | 402 | 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 | 386 | 0.0130 | 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 | |||
FADS1_chr11_61794627_61822003 | 61816605 | G | GCCGGCGG others(5): Show |
conservative_inframe_insertion | MODERATE | NA18960.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0097 | 1 | 270 | 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 | a0002c0004t0001g0164 a0002c0004t0001g0165 a0002c0004t0001g0186 others(1): Show |
4 | 398 | 0.0101 | 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 | a0002c0003t0001g0133 a0002c0003t0002g0007 a0002c0003t0002g0105 others(64): Show |
69 | 288 | 0.2396 | 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 | a0016 | a0016c0041 | a0016c0041t0001 | a0016c0041t0001g0297 | 1 | 117 | 0.0085 | 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(12): Show | a0001c0001a0001c0012a0001c0039others(21): Show | a0001c0001t0001a0001c0012t0001a0001c0039t0001others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0013 others(209): Show |
213 | 329 | 0.6474 | 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 | a0020 | a0020c0025 | a0020c0025t0001 | a0020c0025t0001g0244 | 1 | 330 | 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(93): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(4): Show | a0002c0002t0002a0002c0003t0002a0002c0003t0009others(5): Show | a0002c0002t0002g0000 a0002c0003t0002g0000 a0002c0003t0009g0000 others(5): Show |
96 | 426 | 0.2254 | 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 | a0012c0017t0001 | a0012c0017t0001g0000 | 1 | 414 | 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 |
a0002a0012a0013 | a0002c0002a0002c0003a0002c0004others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0004t0001others(3): Show | a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0004t0001g0000 others(3): Show |
140 | 411 | 0.3406 | 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 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0000 | 2 | 295 | 0.0068 | 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(240): Show |
a0001a0003a0006others(6): Show | a0001c0001a0001c0005a0001c0019others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(191): Show |
243 | 376 | 0.6463 | 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 | a0038 | a0038c0027 | a0038c0027t0001 | a0038c0027t0001g0031 | 1 | 128 | 0.0078 | 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 | a0002c0003t0002g0003 a0002c0003t0002g0005 a0002c0003t0002g0013 others(20): Show |
82 | 375 | 0.2187 | 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 | ||
FBXL14_chr12_1560993_1599581 | 1593826 | T | TGCGGCGG others(17): Show |
conservative_inframe_insertion | MODERATE | NA18983.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0348 | 1 | 416 | 0.0024 | 24 | c.217 others(31): Show |
p.Arg others(35): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/2 | 755/2527 | 240/1257 | 80/418 | chr12 | TogoVar | |||
FBXO11_chr2_47801920_47911498 | 47905551 | G | GGCT | conservative_inframe_insertion | MODERATE | HG00741.hp2 NA19091.hp1 NA20300.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 |
3 | 316 | 0.0095 | 3 | c.167 others(10): Show |
p.Gln others(5): Show |
FBXO11 | ENSG00000138081.22 | transcript | ENST00000403359.8 | protein_coding | 1/23 | 947/4760 | 169/2784 | 57/927 | chr2 | TogoVar | |||
FBXO45_chr3_196563660_196594059 | 196569054 | G | GCGGGCGC others(5): Show |
conservative_inframe_insertion | MODERATE | HG02647.hp2 HG03540.hp2 |
a0003 | a0003c0005 | a0003c0005t0011 | a0003c0005t0011g0045 | 2 | 450 | 0.0044 | 12 | c.76_ others(17): Show |
p.Ala others(11): Show |
FBXO45 | ENSG00000174013.8 | transcript | ENST00000311630.7 | protein_coding | 1/3 | 413/5927 | 88/861 | 30/286 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
FKBP15_chr9_113156006_113226277 | 113169870 | T | TTTC | conservative_inframe_insertion | MODERATE | HG00423.hp2 HG01433.hp2 HG02132.hp1 others(18): Show |
a0005a0010a0011others(1): Show | a0005c0007a0005c0032a0010c0013others(4): Show | a0005c0007t0010a0005c0007t0028a0005c0032t0038others(7): Show | a0005c0007t0010g0013 a0005c0007t0010g0068 a0005c0007t0010g0079 others(17): Show |
21 | 408 | 0.0515 | 3 | c.283 others(12): Show |
p.Glu others(6): Show |
FKBP15 | ENSG00000119321.10 | transcript | ENST00000238256.8 | protein_coding | 26/28 | 2872/8766 | 2838/3660 | 946/1219 | chr9 | TogoVar | |||
FKBPL_chr6_32123707_32135288 | 32129540 | G | GAGACTTA others(5): Show |
conservative_inframe_insertion | MODERATE | HG01934.hp1 HG01975.hp2 HG01993.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 7 | 424 | 0.0165 | 12 | c.229 others(19): Show |
p.Ser others(23): Show |
FKBPL | ENSG00000204315.4 | transcript | ENST00000375156.4 | protein_coding | 2/2 | 508/1342 | 240/1050 | 80/349 | chr6 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG03710.hp1 HG04184.hp1 |
a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0073 a0001c0059t0001g0093 |
2 | 262 | 0.0076 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp1 | a0001 | a0001c0164 | a0001c0164t0001 | a0001c0164t0001g0104 | 1 | 261 | 0.0038 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18961.hp1 NA19003.hp2 |
a0001a0046 | a0001c0147a0046c0158 | a0001c0147t0001a0046c0158t0001 | a0001c0147t0001g0113 a0046c0158t0001g0114 |
2 | 262 | 0.0076 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18982.hp2 | a0113 | a0113c0176 | a0113c0176t0001 | a0113c0176t0001g0121 | 1 | 261 | 0.0038 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar |