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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00642.hp2 | a0046 | a0046c0057 | a0046c0057t0001 | a0046c0057t0001g0276 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01361.hp2 | a0027 | a0027c0053 | a0027c0053t0001 | a0027c0053t0001g0259 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA18980.hp1 | a0123 | a0123c0056 | a0123c0056t0001 | a0123c0056t0001g0177 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG03041.hp2 | a0098 | a0098c0176 | a0098c0176t0001 | a0098c0176t0001g0173 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp2 | a0099 | a0099c0243 | a0099c0243t0001 | a0099c0243t0001g0172 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA18955.hp2 | a0001 | a0001c0152 | a0001c0152t0001 | a0001c0152t0001g0196 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02896.hp1 HG02897.hp1 |
a0038 | a0038c0027 | a0038c0027t0001 | a0038c0027t0001g0024 | 2 | 17 | 0.1176 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp2 HG03098.hp2 NA20129.hp2 |
a0021 | a0021c0240a0021c0241a0021c0242 | a0021c0240t0001a0021c0241t0001a0021c0242t0001 | a0021c0240t0001g0098 a0021c0241t0001g0109 a0021c0242t0001g0099 |
3 | 18 | 0.1667 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02451.hp2 | a0084 | a0084c0244 | a0084c0244t0001 | a0084c0244t0001g0251 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02970.hp1 HG06807.hp1 NA19240.hp1 |
a0008a0136 | a0008c0036a0136c0171 | a0008c0036t0001a0136c0171t0001 | a0008c0036t0001g0019 a0008c0036t0001g0189 a0136c0171t0001g0019 |
3 | 18 | 0.1667 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(67): Show |
a0001a0002a0007others(14): Show | a0001c0002a0001c0012a0001c0031others(49): Show | a0001c0002t0001a0001c0012t0001a0001c0031t0001others(49): Show | a0001c0002t0001g0005 a0001c0002t0001g0021 a0001c0002t0001g0194 others(62): Show |
70 | 85 | 0.8235 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA18985.hp1 | a0001 | a0001c0141 | a0001c0141t0001 | a0001c0141t0001g0191 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG03225.hp2 | a0001 | a0001c0111 | a0001c0111t0001 | a0001c0111t0001g0037 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02165.hp1 | a0078 | a0078c0250 | a0078c0250t0001 | a0078c0250t0001g0181 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00639.hp2 HG00741.hp1 others(12): Show |
a0001a0007a0013others(3): Show | a0001c0134a0007c0038a0007c0115others(10): Show | a0001c0134t0001a0007c0038t0001a0007c0115t0001others(10): Show | a0001c0134t0001g0169 a0007c0038t0001g0234 a0007c0038t0001g0235 others(12): Show |
15 | 30 | 0.5000 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01168.hp2 | a0055 | a0055c0044 | a0055c0044t0001 | a0055c0044t0001g0138 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01175.hp1 HG01257.hp1 HG02055.hp1 others(6): Show |
a0008a0028a0056others(2): Show | a0008c0035a0008c0165a0008c0166others(5): Show | a0008c0035t0001a0008c0165t0001a0008c0166t0001others(5): Show | a0008c0035t0001g0156 a0008c0035t0001g0254 a0008c0165t0001g0253 others(6): Show |
9 | 24 | 0.3750 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00673.hp2 | a0001 | a0001c0147 | a0001c0147t0001 | a0001c0147t0001g0170 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG03516.hp2 | a0105 | a0105c0113 | a0105c0113t0001 | a0105c0113t0001g0131 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00642.hp1 | a0001 | a0001c0137 | a0001c0137t0001 | a0001c0137t0001g0136 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02109.hp2 HG03209.hp1 |
a0010a0100 | a0010c0180a0100c0186 | a0010c0180t0001a0100c0186t0001 | a0010c0180t0001g0027 a0100c0186t0001g0027 |
2 | 17 | 0.1176 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02132.hp1 | a0001 | a0001c0138 | a0001c0138t0001 | a0001c0138t0001g0192 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 NA20129.hp1 |
a0080a0138 | a0080c0238a0138c0239 | a0080c0238t0001a0138c0239t0001 | a0080c0238t0001g0291 a0138c0239t0001g0290 |
2 | 17 | 0.1176 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02622.hp1 HG03195.hp2 |
a0035 | a0035c0236a0035c0237 | a0035c0236t0001a0035c0237t0001 | a0035c0236t0001g0008 a0035c0237t0001g0008 |
2 | 17 | 0.1176 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp1 | a0107 | a0107c0249 | a0107c0249t0001 | a0107c0249t0001g0102 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp2 HG02257.hp2 HG03471.hp1 |
a0032a0066a0103 | a0032c0247a0066c0246a0103c0245 | a0032c0247t0001a0066c0246t0001a0103c0245t0001 | a0032c0247t0001g0103 a0066c0246t0001g0100 a0103c0245t0001g0101 |
3 | 18 | 0.1667 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG03486.hp1 | a0032 | a0032c0248 | a0032c0248t0001 | a0032c0248t0001g0286 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG03834.hp2 | a0112 | a0112c0090 | a0112c0090t0001 | a0112c0090t0001g0081 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02074.hp2 HG03209.hp2 NA18959.hp1 |
a0031a0101 | a0031c0025a0101c0082 | a0031c0025t0001a0101c0082t0001 | a0031c0025t0001g0015 a0031c0025t0001g0237 a0101c0082t0001g0094 |
3 | 18 | 0.1667 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA19030.hp2 | a0132 | a0132c0048 | a0132c0048t0001 | a0132c0048t0001g0296 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp2 HG00621.hp1 HG00639.hp1 others(72): Show |
a0004a0005a0011others(33): Show | a0004c0003a0004c0005a0005c0004others(38): Show | a0004c0003t0001a0004c0005t0001a0005c0004t0001others(38): Show | a0004c0003t0001g0016 a0004c0003t0001g0034 a0004c0003t0001g0104 others(67): Show |
75 | 90 | 0.8333 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01934.hp2 | a0005 | a0005c0088 | a0005c0088t0001 | a0005c0088t0001g0214 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02572.hp1 | a0086 | a0086c0051 | a0086c0051t0001 | a0086c0051t0001g0108 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01255.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0017 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02615.hp1 | a0006 | a0006c0209 | a0006c0209t0001 | a0006c0209t0001g0026 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA19043.hp1 | a0006 | a0006c0229 | a0006c0229t0001 | a0006c0229t0001g0033 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG03516.hp1 | a0104 | a0104c0049 | a0104c0049t0001 | a0104c0049t0001g0036 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01928.hp1 | a0067 | a0067c0106 | a0067c0106t0001 | a0067c0106t0001g0042 | 1 | 16 | 0.0625 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997816 | C | CGCACACA others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp1 | a0090 | a0090c0070 | a0090c0070t0001 | a0090c0070t0001g0157 | 1 | 340 | 0.0029 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
RIN3_chr14_92508781_92693994 | 92547310 | T | TAAATTAT others(1820): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 261 | 0.0038 | 1827 | c.45- others(1842): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1820): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 126 | 0.0079 | 1827 | c.45- others(1842): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(1820): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0341 | 1 | 330 | 0.0030 | 1827 | c.115 others(1844): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(1820): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0379 | 1 | 188 | 0.0053 | 1827 | c.227 others(1846): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(1820): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0069 | 1 | 34 | 0.0294 | 1827 | c.497 others(1848): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670432 | T | TCCGTGCA others(1820): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0324 | 1 | 385 | 0.0026 | 1827 | c.129 others(1844): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCGTGCAC others(1820): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0180 | 1 | 149 | 0.0067 | 1827 | c.129 others(1844): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCGTGCAC others(1820): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0206 | 1 | 149 | 0.0067 | 1827 | c.129 others(1844): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1821): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 82 | 0.0122 | 1828 | c.106 others(1847): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ACAATCCT others(1821): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0023 | 1 | 140 | 0.0071 | 1828 | c.*52 others(1839): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1821): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 69 | 0.0145 | 1828 | c.*52 others(1839): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar |