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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBNL3_chrX_132364320_132494038 | 132396679 | T | TATATATA others(233): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0104 | 1 | 191 | 0.0052 | 240 | c.343 others(257): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113333820 | C | CATATGTA others(233): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0083 | 1 | 160 | 0.0063 | 240 | c.627 others(257): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113333838 | T | TATATGTA others(233): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 160 | 0.0063 | 240 | c.627 others(257): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
MELTF_chr3_196996740_197034817 | 197033098 | A | ACTCTTGC others(233): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01109.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0011a0001c0001t0001g0106a0001c0001t0001g0132others(30): Show | 38 | 420 | 0.0905 | 240 | c.-33 others(251): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 3282 | chr3 | TogoVar | ||||||
MELTF_chr3_196996740_197034817 | 197034373 | G | GACATGAG others(233): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0295 | 1 | 420 | 0.0024 | 240 | c.-46 others(251): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 4557 | chr3 | TogoVar | ||||||
MELTF_chr3_196996740_197034817 | 197034594 | A | ACTCTTGC others(233): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(103): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0054a0001c0001t0001g0100a0001c0001t0001g0135others(80): Show | 106 | 420 | 0.2524 | 240 | c.-48 others(251): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 4778 | chr3 | TogoVar | ||||||
MFSD3_chr8_144504070_144516213 | 144513804 | G | GAGGGGTC others(233): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 400 | 0.0050 | 240 | c.*26 others(251): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2592 | chr8 | TogoVar | ||||||
MFSD3_chr8_144504070_144516213 | 144513834 | A | GAGGGGTC others(233): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 240 | c.*26 others(250): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2621 | chr8 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1444166 | A | ACCTGTCC others(233): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0021 | a0021c0072 | a0021c0072t0001 | a0021c0072t0001g0039 | 1 | 280 | 0.0036 | 240 | c.141 others(257): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 6/16 | chr7 | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(233): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02976.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0120a0001c0001t0001g0181 | 3 | 181 | 0.0166 | 240 | c.107 others(259): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MOV10L1_chr22_50085006_50166687 | 50147175 | G | GGCAGGCC others(233): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18973.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0004 | a0002c0002t0002g0014a0003c0003t0004g0386 | 2 | 400 | 0.0050 | 240 | c.262 others(259): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MOV10L1_chr22_50085006_50166687 | 50147197 | A | ACTCTGTG others(233): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 400 | 0.0025 | 240 | c.262 others(259): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MOV10L1_chr22_50085006_50166687 | 50147245 | G | GCTCTGTG others(233): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0191 | 1 | 400 | 0.0025 | 240 | c.262 others(259): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MOV10L1_chr22_50085006_50166687 | 50147245 | G | GCTCTGTG others(233): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0100 | 1 | 400 | 0.0025 | 240 | c.262 others(259): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MOV10L1_chr22_50085006_50166687 | 50147326 | C | CGCTCTCT others(233): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 400 | 0.0025 | 240 | c.262 others(259): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MOV10L1_chr22_50085006_50166687 | 50147436 | C | CGCTCTGT others(233): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 400 | 0.0025 | 240 | c.262 others(259): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43500184 | A | ATGATGGT others(233): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0099 | 1 | 250 | 0.0040 | 240 | c.748 others(257): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43500211 | G | GTGGTGGA others(233): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050 | 1 | 250 | 0.0040 | 240 | c.748 others(257): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43500278 | C | CGGTGGTG others(233): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0006 | 1 | 250 | 0.0040 | 240 | c.748 others(257): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43500278 | C | CGGTGGTG others(233): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0005 | 1 | 250 | 0.0040 | 240 | c.748 others(257): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED2_chr11_30405224_30591353 | 30557225 | A | AATATATA others(233): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0259 | 1 | 262 | 0.0038 | 240 | c.129 others(259): Show |
MPPED2 | ENSG00000066382.17 | transcript | ENST00000358117.10 | protein_coding | 2/6 | chr11 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693119 | A | ATAGATAA others(233): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 362 | 0.0028 | 240 | c.134 others(261): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80693211 | A | ATATGTTT others(233): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19068.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126a0001c0002t0001g0150 | 2 | 362 | 0.0055 | 240 | c.134 others(261): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80693313 | A | ATATGTTT others(233): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0333a0001c0001t0006g0334 | 2 | 362 | 0.0055 | 240 | c.134 others(261): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195775382 | G | GTACCTTC others(233): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0049 | a0049c0145 | a0049c0145t0008 | a0049c0145t0008g0055 | 1 | 249 | 0.0040 | 240 | c.129 others(261): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195775708 | A | AGTCATAC others(233): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01256.hp2 HG01258.hp1 others(3): Show |
a0006a0012a0029others(2): Show | a0006c0019a0012c0020a0029c0138others(2): Show | a0006c0019t0002a0012c0020t0002a0029c0138t0002others(2): Show | a0006c0019t0002g0013a0012c0020t0002g0011a0012c0020t0002g0012others(3): Show | 6 | 249 | 0.0241 | 240 | c.129 others(261): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195776401 | C | CATACCTT others(233): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0062 | a0062c0197 | a0062c0197t0009 | a0062c0197t0009g0243 | 1 | 249 | 0.0040 | 240 | c.129 others(261): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195776430 | C | CCATACCT others(233): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0083 | a0083c0190 | a0083c0190t0004 | a0083c0190t0004g0241 | 1 | 249 | 0.0040 | 240 | c.129 others(261): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195776430 | C | CCATACCT others(233): Show |
intron_variant | MODIFIER | HG00621.hp2 NA19070.hp1 |
a0007a0065 | a0007c0007a0065c0196 | a0007c0007t0003a0065c0196t0003 | a0007c0007t0003g0152a0065c0196t0003g0208 | 2 | 249 | 0.0080 | 240 | c.129 others(261): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195779022 | G | GGACACTG others(233): Show |
disruptive_inframe_insertion | MODERATE | HG02132.hp1 HG02155.hp1 NA18974.hp2 |
a0008a0143a0186 | a0008c0086a0143c0090a0186c0128 | a0008c0086t0001a0143c0090t0001a0186c0128t0001 | a0008c0086t0001g0163a0143c0090t0001g0164a0186c0128t0001g0170 | 3 | 249 | 0.0121 | 240 | c.125 others(251): Show |
p.Ser others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12669/16756 | 12557/16239 | 4186/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195779022 | G | GGACACTG others(233): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(77): Show |
a0002a0004a0005others(56): Show | a0002c0002a0002c0098a0002c0099others(63): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(63): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(76): Show | 80 | 249 | 0.3213 | 240 | c.125 others(251): Show |
p.Ser others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12669/16756 | 12557/16239 | 4186/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195779132 | G | GGCTGGTG others(233): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp2 HG01978.hp2 |
a0102a0171 | a0102c0122a0171c0111 | a0102c0122t0001a0171c0111t0001 | a0102c0122t0001g0052a0171c0111t0001g0051 | 2 | 249 | 0.0080 | 240 | c.124 others(251): Show |
p.Ile others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12559/16756 | 12447/16239 | 4149/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195779831 | C | CACCTGTG others(233): Show |
conservative_inframe_insertion | MODERATE | HG03579.hp1 | a0104 | a0104c0030 | a0104c0030t0005 | a0104c0030t0005g0232 | 1 | 249 | 0.0040 | 240 | c.117 others(251): Show |
p.Asp others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11860/16756 | 11748/16239 | 3916/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195779887 | G | GATACTGA others(233): Show |
conservative_inframe_insertion | MODERATE | HG03209.hp2 | a0052 | a0052c0140 | a0052c0140t0002 | a0052c0140t0002g0062 | 1 | 249 | 0.0040 | 240 | c.116 others(251): Show |
p.Ala others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11804/16756 | 11692/16239 | 3898/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195781486 | C | CTGGTGAG others(233): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp1 | a0078 | a0078c0193 | a0078c0193t0003 | a0078c0193t0003g0213 | 1 | 249 | 0.0040 | 240 | c.100 others(251): Show |
p.Gly others(253): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10205/16756 | 10093/16239 | 3365/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195784642 | G | GCCGAGGA others(233): Show |
conservative_inframe_insertion | MODERATE | HG01346.hp1 HG01496.hp2 HG01981.hp2 others(1): Show |
a0120a0121a0122others(1): Show | a0120c0060a0121c0057a0122c0058others(1): Show | a0120c0060t0001a0121c0057t0001a0122c0058t0001others(1): Show | a0120c0060t0001g0092a0121c0057t0001g0108a0122c0058t0001g0142others(1): Show | 4 | 249 | 0.0161 | 240 | c.693 others(249): Show |
p.Ser others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7049/16756 | 6937/16239 | 2313/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195785197 | G | GGGGTGAC others(233): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG03688.hp2 HG03942.hp2 others(1): Show |
a0025a0076a0156 | a0025c0010a0076c0168a0156c0106 | a0025c0010t0001a0076c0168t0001a0156c0106t0001 | a0025c0010t0001g0078a0025c0010t0001g0141a0076c0168t0001g0082others(1): Show | 4 | 249 | 0.0161 | 240 | c.638 others(249): Show |
p.Thr others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6494/16756 | 6382/16239 | 2128/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195785567 | C | CGGTGACA others(233): Show |
conservative_inframe_insertion | MODERATE | HG02647.hp2 HG03579.hp1 |
a0071a0104 | a0071c0175a0104c0030 | a0071c0175t0005a0104c0030t0005 | a0071c0175t0005g0227a0104c0030t0005g0232 | 2 | 249 | 0.0080 | 240 | c.601 others(249): Show |
p.Thr others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6124/16756 | 6012/16239 | 2004/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195785807 | T | TGGTGACA others(233): Show |
conservative_inframe_insertion | MODERATE | HG03688.hp1 | a0081 | a0081c0189 | a0081c0189t0011 | a0081c0189t0011g0206 | 1 | 249 | 0.0040 | 240 | c.577 others(249): Show |
p.Thr others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5884/16756 | 5772/16239 | 1924/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787031 | G | GACCTGTG others(233): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 | a0060 | a0060c0199 | a0060c0199t0009 | a0060c0199t0009g0224 | 1 | 249 | 0.0040 | 240 | c.454 others(249): Show |
p.Gly others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4660/16756 | 4548/16239 | 1516/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787559 | C | CACCTGTG others(233): Show |
conservative_inframe_insertion | MODERATE | HG02056.hp1 NA18971.hp2 NA18983.hp2 others(2): Show |
a0010a0130a0158 | a0010c0005a0130c0125a0158c0084 | a0010c0005t0001a0130c0125t0001a0158c0084t0001 | a0010c0005t0001g0063a0010c0005t0001g0064a0010c0005t0001g0066others(2): Show | 5 | 249 | 0.0201 | 240 | c.402 others(249): Show |
p.Gly others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4132/16756 | 4020/16239 | 1340/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787559 | C | CACCTGTG others(233): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(75): Show |
a0004a0005a0008others(60): Show | a0004c0004a0004c0017a0005c0015others(65): Show | a0004c0004t0001a0004c0017t0001a0005c0015t0002others(65): Show | a0004c0004t0001g0075a0004c0004t0001g0093a0004c0004t0001g0094others(75): Show | 78 | 249 | 0.3133 | 240 | c.402 others(249): Show |
p.Gly others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4132/16756 | 4020/16239 | 1340/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787559 | C | CACCTGTG others(233): Show |
conservative_inframe_insertion | MODERATE | NA18954.hp1 NA19065.hp1 |
a0153a0154 | a0153c0091a0154c0092 | a0153c0091t0001a0154c0092t0016 | a0153c0091t0001g0053a0154c0092t0016g0247 | 2 | 249 | 0.0080 | 240 | c.402 others(249): Show |
p.Gly others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4132/16756 | 4020/16239 | 1340/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787559 | C | CACCTGTG others(233): Show |
conservative_inframe_insertion | MODERATE | HG02257.hp2 | a0169 | a0169c0053 | a0169c0053t0001 | a0169c0053t0001g0132 | 1 | 249 | 0.0040 | 240 | c.402 others(249): Show |
p.Gly others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4132/16756 | 4020/16239 | 1340/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787571 | C | CTGAGGAA others(233): Show |
conservative_inframe_insertion | MODERATE | HG03225.hp1 | a0051 | a0051c0139 | a0051c0139t0001 | a0051c0139t0001g0068 | 1 | 249 | 0.0040 | 240 | c.400 others(249): Show |
p.Ser others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4120/16756 | 4008/16239 | 1336/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787571 | C | CTGAGGAA others(233): Show |
conservative_inframe_insertion | MODERATE | HG02717.hp2 NA18906.hp1 |
a0055a0056 | a0055c0143a0056c0142 | a0055c0143t0001a0056c0142t0007 | a0055c0143t0001g0007a0056c0142t0007g0006 | 2 | 249 | 0.0080 | 240 | c.400 others(249): Show |
p.Ser others(255): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4120/16756 | 4008/16239 | 1336/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195788591 | C | CGGTGACA others(233): Show |
conservative_inframe_insertion | MODERATE | HG01346.hp2 | a0096 | a0096c0130 | a0096c0130t0004 | a0096c0130t0004g0238 | 1 | 249 | 0.0040 | 240 | c.298 others(249): Show |
p.Thr others(253): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3100/16756 | 2988/16239 | 996/5412 | chr3 | TogoVar | ||
MYO1F_chr19_8515778_8582442 | 8543750 | G | GTGGTGCT others(233): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0314 | 1 | 342 | 0.0029 | 240 | c.152 others(257): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2295665 | G | GAGAGAGA others(233): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0086 | 1 | 104 | 0.0096 | 240 | c.-52 others(261): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64235944 | T | TGGGATGG others(233): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0016 | a0001c0001t0001g0219a0001c0001t0011g0074a0001c0001t0011g0094others(3): Show | 6 | 223 | 0.0269 | 240 | c.289 others(257): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |