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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAEA_chr4_1284891_1345137 | 1334054 | GCACCCAC others(89): Show |
G | intron_variant | MODIFIER | HG02451.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0203 |
2 | 386 | 0.0052 | -96 | c.765 others(113): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19452155 | GAAGAGAA others(89): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 159 | 0.0063 | -96 | c.995 others(113): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19452255 | GAAGAGAA others(89): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0159 | 1 | 160 | 0.0063 | -96 | c.995 others(113): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
MAP3K6_chr1_27350184_27371961 | 27356140 | CTGCTAGA others(89): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0083 | 1 | 410 | 0.0024 | -96 | c.363 others(112): Show |
MAP3K6 | ENSG00000142733.18 | transcript | ENST00000357582.3 | protein_coding | 26/28 | chr1 | TogoVar | |||||||
MAPK9_chr5_180228143_180297083 | 180296759 | ACACACAC others(89): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 370 | 0.0027 | -96 | c.-50 others(107): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4677 | chr5 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7036169 | CATAATGT others(89): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG02015.hp2 HG02165.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 12 | 262 | 0.0458 | -96 | c.*15 others(107): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1579 | chr19 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7036169 | CATAATGT others(89): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp2 NA18747.hp1 NA18941.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0004 |
9 | 247 | 0.0364 | -96 | c.*32 others(107): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 3159 | chr19 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583663 | CGCGCAGC others(89): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 HG03453.hp1 others(2): Show |
a0008a0015a0021others(2): Show | a0008c0108a0015c0013a0021c0030others(2): Show | a0008c0108t0023a0015c0013t0020a0021c0030t0030others(2): Show | a0008c0108t0023g0003 a0015c0013t0020g0289 a0021c0030t0030g0267 others(2): Show |
5 | 290 | 0.0172 | -96 | c.377 others(113): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
METAP1D_chr2_171994953_172087430 | 172042639 | ATATGTGT others(89): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 others(4): Show |
7 | 351 | 0.0199 | -96 | c.41- others(113): Show |
METAP1D | ENSG00000172878.14 | transcript | ENST00000315796.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1443999 | AGCCAGCG others(89): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0177 |
2 | 265 | 0.0075 | -96 | c.141 others(113): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 6/16 | chr7 | TogoVar | |||||||
MIEF1_chr22_39497290_39523132 | 39510776 | GAGAGACC others(89): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
a0002 | a0002c0002a0002c0014 | a0002c0002t0017a0002c0002t0026a0002c0014t0026 | a0002c0002t0017g0044 a0002c0002t0017g0122 a0002c0002t0026g0116 others(1): Show |
5 | 398 | 0.0126 | -96 | c.-7- others(109): Show |
MIEF1 | ENSG00000100335.15 | transcript | ENST00000325301.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79439095 | TCGGGTAT others(89): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0203 a0001c0002t0002g0272 |
2 | 201 | 0.0100 | -96 | c.-51 others(113): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MLIP_chr6_54106443_54271280 | 54251876 | TATAATAT others(89): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0010 | a0010c0024 | a0010c0024t0001 | a0010c0024t0001g0094 | 1 | 246 | 0.0041 | -96 | c.292 others(115): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MMACHC_chr1_45495300_45518382 | 45517815 | AGAAAGGA others(89): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(167): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0011a0001c0001t0016a0001c0001t0020others(32): Show | a0001c0001t0011g0038 a0001c0001t0016g0012 a0001c0001t0016g0094 others(77): Show |
170 | 384 | 0.4427 | -96 | c.*86 others(107): Show |
MMACHC | ENSG00000132763.15 | transcript | ENST00000401061.9 | protein_coding | 4434 | chr1 | TogoVar | |||||||
MOV10L1_chr22_50085006_50166687 | 50147175 | GGCAGGCC others(89): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG01070.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0028others(4): Show | a0001c0001t0001a0001c0007t0001a0001c0028t0001others(4): Show | a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 others(20): Show |
24 | 228 | 0.1053 | -96 | c.262 others(115): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MOV10L1_chr22_50085006_50166687 | 50147197 | ACTCTGTG others(89): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00733.hp1 others(33): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0005a0004c0008others(8): Show | a0001c0001t0001a0001c0005t0001a0004c0008t0001others(8): Show | a0001c0001t0001g0146 a0001c0001t0001g0196 a0001c0001t0001g0238 others(33): Show |
36 | 231 | 0.1558 | -96 | c.262 others(115): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPDZ_chr9_13100707_13284692 | 13222784 | CCACATCC others(89): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 |
a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0239 a0007c0014t0001g0240 |
2 | 188 | 0.0106 | -96 | c.534 others(111): Show |
MPDZ | ENSG00000107186.17 | transcript | ENST00000319217.12 | protein_coding | 5/46 | chr9 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43499840 | TGGTGGTG others(89): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03130.hp1 |
a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0171 a0001c0006t0017g0194 |
2 | 248 | 0.0081 | -96 | c.748 others(113): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRM1_chr17_36596583_36613964 | 36613400 | ATTAATGG others(89): Show |
A | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 394 | 0.0025 | -96 | c.*49 others(107): Show |
MRM1 | ENSG00000278619.5 | transcript | ENST00000614766.5 | protein_coding | 4437 | chr17 | TogoVar | |||||||
MSH4_chr1_75791882_75918242 | 75885990 | TTATATAG others(89): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp1 others(27): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0003 | a0001c0004t0001g0014 a0001c0004t0001g0017 a0001c0004t0001g0018 others(27): Show |
30 | 141 | 0.2128 | -96 | c.210 others(115): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29375515 | CTATATAT others(89): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02818.hp1 |
a0002a0004 | a0002c0002a0004c0019 | a0002c0002t0003a0004c0019t0001 | a0002c0002t0003g0063 a0004c0019t0001g0015 |
2 | 70 | 0.0286 | -96 | c.311 others(117): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195779135 | TGGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG01891.hp1 HG02486.hp2 |
a0048a0067 | a0048c0040a0067c0120 | a0048c0040t0001a0067c0120t0006 | a0048c0040t0001g0135 a0067c0120t0006g0029 |
2 | 241 | 0.0083 | -96 | c.123 others(107): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12556/16756 | 12349/16239 | 4117/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779582 | GGGTGGCG others(89): Show |
G | conservative_inframe_deletion | MODERATE | HG02486.hp2 | a0067 | a0067c0120 | a0067c0120t0006 | a0067c0120t0006g0029 | 1 | 247 | 0.0040 | -96 | c.119 others(107): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12109/16756 | 11902/16239 | 3968/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779859 | GACAGGAA others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG02698.hp2 HG04228.hp1 |
a0019 | a0019c0023 | a0019c0023t0002 | a0019c0023t0002g0141 a0019c0023t0002g0144 |
2 | 248 | 0.0081 | -96 | c.116 others(107): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11832/16756 | 11625/16239 | 3875/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779955 | AACAGGAA others(89): Show |
A | disruptive_inframe_deletion | MODERATE | HG01192.hp2 HG02258.hp2 HG02976.hp2 |
a0038a0060a0081 | a0038c0161a0060c0160a0081c0158 | a0038c0161t0015a0060c0160t0009a0081c0158t0009 | a0038c0161t0015g0234 a0060c0160t0009g0222 a0081c0158t0009g0244 |
3 | 76 | 0.0395 | -96 | c.115 others(107): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11736/16756 | 11529/16239 | 3843/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195780016 | ATGGTGTC others(89): Show |
A | disruptive_inframe_deletion | MODERATE | HG02486.hp2 | a0067 | a0067c0120 | a0067c0120t0006 | a0067c0120t0006g0029 | 1 | 165 | 0.0061 | -96 | c.114 others(107): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11675/16756 | 11468/16239 | 3823/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195780479 | TGGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG03540.hp1 | a0092 | a0092c0102 | a0092c0102t0002 | a0092c0102t0002g0182 | 1 | 129 | 0.0078 | -96 | c.110 others(107): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11212/16756 | 11005/16239 | 3669/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195780524 | TGTCCGTG others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG00280.hp2 HG01361.hp2 NA19043.hp2 |
a0015a0029 | a0015c0011a0029c0036 | a0015c0011t0002a0029c0036t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 a0029c0036t0002g0192 |
3 | 140 | 0.0214 | -96 | c.109 others(107): Show |
p.Ala others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11167/16756 | 10960/16239 | 3654/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195780597 | GTGACCTG others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG03225.hp2 | a0090 | a0090c0097 | a0090c0097t0003 | a0090c0097t0003g0067 | 1 | 244 | 0.0041 | -96 | c.108 others(107): Show |
p.Gln others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11094/16756 | 10887/16239 | 3629/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195780789 | GTGACCTG others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG03688.hp2 HG03942.hp2 |
a0022 | a0022c0020 | a0022c0020t0001 | a0022c0020t0001g0028 a0022c0020t0001g0093 |
2 | 214 | 0.0093 | -96 | c.106 others(107): Show |
p.Gln others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10902/16756 | 10695/16239 | 3565/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195780879 | GGTGGCCT others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp2 | a0029 | a0029c0036 | a0029c0036t0002 | a0029c0036t0002g0192 | 1 | 248 | 0.0040 | -96 | c.106 others(107): Show |
p.Pro others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10812/16756 | 10605/16239 | 3535/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195781570 | GCTGAGGA others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG02015.hp1 HG02040.hp2 others(8): Show |
a0010a0017a0018others(4): Show | a0010c0010a0010c0029a0017c0015others(6): Show | a0010c0010t0001a0010c0029t0001a0017c0015t0001others(6): Show | a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 others(8): Show |
11 | 157 | 0.0701 | -96 | c.991 others(106): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10121/16756 | 9914/16239 | 3305/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195781619 | CTGAGGAA others(89): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00738.hp2 HG01106.hp2 others(4): Show |
a0014a0027a0035others(3): Show | a0014c0012a0027c0033a0035c0035others(3): Show | a0014c0012t0002a0027c0033t0002a0035c0035t0002others(3): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(4): Show |
7 | 244 | 0.0287 | -96 | c.986 others(105): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10072/16756 | 9865/16239 | 3289/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782509 | GGGGTGGC others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG03098.hp2 | a0084 | a0084c0138 | a0084c0138t0005 | a0084c0138t0005g0228 | 1 | 248 | 0.0040 | -96 | c.897 others(105): Show |
p.Leu others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9182/16756 | 8975/16239 | 2992/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782548 | ACAGGAAG others(89): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG02015.hp1 HG02040.hp2 others(6): Show |
a0010a0017a0018others(2): Show | a0010c0010a0010c0029a0017c0015others(4): Show | a0010c0010t0001a0010c0029t0001a0017c0015t0001others(4): Show | a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 others(6): Show |
9 | 248 | 0.0363 | -96 | c.893 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9143/16756 | 8936/16239 | 2979/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782802 | GGCCTGAC others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG01975.hp1 HG02717.hp1 |
a0050a0074 | a0050c0143a0074c0137 | a0050c0143t0004a0074c0137t0005 | a0050c0143t0004g0224 a0074c0137t0005g0227 |
2 | 247 | 0.0081 | -96 | c.868 others(105): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8889/16756 | 8682/16239 | 2894/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782828 | TGTCGGTG others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 222 | 0.0090 | -96 | c.865 others(105): Show |
p.Ala others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8863/16756 | 8656/16239 | 2886/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782894 | GGGTAGCG others(89): Show |
G | conservative_inframe_deletion | MODERATE | HG03209.hp1 | a0087 | a0087c0123 | a0087c0123t0014 | a0087c0123t0014g0184 | 1 | 246 | 0.0041 | -96 | c.859 others(105): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8797/16756 | 8590/16239 | 2864/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783695 | TAGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(4): Show |
a0014a0027a0028others(3): Show | a0014c0012a0027c0033a0028c0034others(3): Show | a0014c0012t0002a0027c0033t0002a0028c0034t0002others(3): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(4): Show |
7 | 221 | 0.0317 | -96 | c.778 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7996/16756 | 7789/16239 | 2597/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784479 | GGTGGTGT others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02015.hp1 HG02145.hp1 others(6): Show |
a0017a0048a0067others(5): Show | a0017c0015a0048c0040a0067c0120others(5): Show | a0017c0015t0001a0048c0040t0001a0067c0120t0006others(5): Show | a0017c0015t0001g0065 a0017c0015t0001g0108 a0048c0040t0001g0135 others(6): Show |
9 | 248 | 0.0363 | -96 | c.700 others(105): Show |
p.Pro others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7212/16756 | 7005/16239 | 2335/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784511 | CGGTGACA others(89): Show |
C | conservative_inframe_deletion | MODERATE | HG01975.hp1 HG02717.hp1 HG03225.hp2 |
a0050a0074a0090 | a0050c0143a0074c0137a0090c0097 | a0050c0143t0004a0074c0137t0005a0090c0097t0003 | a0050c0143t0004g0224 a0074c0137t0005g0227 a0090c0097t0003g0067 |
3 | 240 | 0.0125 | -96 | c.697 others(105): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7180/16756 | 6973/16239 | 2325/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784559 | TAGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 236 | 0.0085 | -96 | c.692 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7132/16756 | 6925/16239 | 2309/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784703 | TAGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG02486.hp2 HG02647.hp1 HG02723.hp2 others(1): Show |
a0067a0072a0077others(1): Show | a0067c0120a0072c0122a0077c0121others(1): Show | a0067c0120t0006a0072c0122t0007a0077c0121t0007others(1): Show | a0067c0120t0006g0029 a0072c0122t0007g0186 a0077c0121t0007g0185 others(1): Show |
4 | 233 | 0.0172 | -96 | c.678 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6988/16756 | 6781/16239 | 2261/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785037 | GTCGGTGA others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG02976.hp1 | a0080 | a0080c0141 | a0080c0141t0002 | a0080c0141t0002g0219 | 1 | 246 | 0.0041 | -96 | c.644 others(105): Show |
p.Glu others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6654/16756 | 6447/16239 | 2149/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785454 | GGATGCTG others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00280.hp2 HG00738.hp2 others(7): Show |
a0014a0028a0029others(6): Show | a0014c0012a0028c0034a0029c0036others(6): Show | a0014c0012t0002a0028c0034t0002a0029c0036t0002others(6): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0028c0034t0002g0193 others(7): Show |
10 | 248 | 0.0403 | -96 | c.603 others(105): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6237/16756 | 6030/16239 | 2010/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785519 | TGGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG03130.hp2 | a0086 | a0086c0156 | a0086c0156t0012 | a0086c0156t0012g0239 | 1 | 238 | 0.0042 | -96 | c.596 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6172/16756 | 5965/16239 | 1989/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195788275 | GCGTGACC others(89): Show |
G | disruptive_inframe_deletion | MODERATE | HG01167.hp1 | a0037 | a0037c0032 | a0037c0032t0001 | a0037c0032t0001g0188 | 1 | 240 | 0.0042 | -96 | c.320 others(105): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3416/16756 | 3209/16239 | 1070/5412 | chr3 | TogoVar | |||
MUC5AC_chr11_1152953_1206138 | 1191269 | CTACTCCC others(89): Show |
C | conservative_inframe_deletion | MODERATE | NA18942.hp2 NA19056.hp2 |
a0055a0061 | a0055c0058a0061c0049 | a0055c0058t0001a0061c0049t0001 | a0055c0058t0001g0193 a0061c0049t0001g0002 |
2 | 234 | 0.0085 | -96 | c.131 others(107): Show |
p.Ser others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 13230/17448 | 13183/16965 | 4395/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MUSK_chr9_110663791_110811558 | 110690541 | AATATATA others(89): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG02145.hp1 others(11): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0032a0001c0002t0002others(3): Show | a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0309 others(11): Show |
14 | 79 | 0.1772 | -96 | c.358 others(113): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543654 | CTGGTGGT others(89): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0342 | 1 | 334 | 0.0030 | -96 | c.152 others(113): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar |