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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAP1A_chr15_43512608_43536611 | 43525606 | AGGT | A | disruptive_inframe_deletion | MODERATE | HG02071.hp2 HG02148.hp1 HG02155.hp1 others(14): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 a0004c0004t0001g0011 |
17 | 338 | 0.0503 | -3 | c.413 others(12): Show |
p.Val others(7): Show |
MAP1A | ENSG00000166963.13 | transcript | ENST00000300231.6 | protein_coding | 4/6 | 4604/10266 | 4137/8412 | 1379/2803 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MAP3K10_chr19_40186426_40220575 | 40213998 | GCCCTCCC others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02055.hp2 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0010 | 1 | 395 | 0.0025 | -12 | c.232 others(21): Show |
p.Pro others(13): Show |
MAP3K10 | ENSG00000130758.8 | transcript | ENST00000253055.8 | protein_coding | 9/10 | 2934/3754 | 2328/2865 | 776/954 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
MAP3K4_chr6_160986769_161122380 | 161098318 | CCTG | C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(326): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0005a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(315): Show |
329 | 338 | 0.9734 | -3 | c.359 others(12): Show |
p.Ala others(7): Show |
MAP3K4 | ENSG00000085511.20 | transcript | ENST00000392142.9 | protein_coding | 17/27 | 3759/5500 | 3596/4827 | 1199/1608 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MAP3K4_chr6_160986769_161122380 | 161098318 | CCTGCTGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | NA18906.hp1 NA19043.hp1 |
a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0007 | 2 | 11 | 0.1818 | -12 | c.358 others(21): Show |
p.Ala others(15): Show |
MAP3K4 | ENSG00000085511.20 | transcript | ENST00000392142.9 | protein_coding | 17/27 | 3750/5500 | 3587/4827 | 1196/1608 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MAP7_chr6_136337734_136555422 | 136360785 | GCTT | G | disruptive_inframe_deletion | MODERATE | HG02451.hp2 HG02723.hp2 HG02809.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0080 a0004c0004t0001g0096 a0004c0004t0001g0117 others(3): Show |
6 | 246 | 0.0244 | -3 | c.171 others(12): Show |
p.Glu others(6): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 13/18 | 1728/3758 | 1712/2250 | 571/749 | chr6 | TogoVar | |||
MAPK8IP1_chr11_45880651_45911465 | 45900248 | CGAGGACG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00438.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0035 | 1 | 390 | 0.0026 | -12 | c.330 others(19): Show |
p.Glu others(13): Show |
MAPK8IP1 | ENSG00000121653.11 | transcript | ENST00000241014.6 | protein_coding | 3/12 | 500/3050 | 330/2136 | 110/711 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MAPKAPK3_chr3_50612151_50654291 | 50642241 | CTGTTTCT others(29): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG01081.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0081 | 1 | 324 | 0.0031 | -36 | c.425 others(45): Show |
p.Glu others(13): Show |
MAPKAPK3 | ENSG00000114738.11 | transcript | ENST00000621469.5 | protein_coding | 5/11 | 425/1149 | 142/382 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||
MARCOL_chr5_148233525_148248580 | 148243107 | GGGGAAGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG02145.hp1 HG03225.hp1 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0021 a0006c0006t0002g0022 a0006c0006t0002g0023 |
3 | 416 | 0.0072 | -27 | c.725 others(34): Show |
p.Leu others(13): Show |
MARCOL | ENSG00000248109.3 | transcript | ENST00000638089.2 | protein_coding | 2/2 | 798/1257 | 725/858 | 242/285 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MAST4_chr5_66591393_67174593 | 67166219 | AACAGACA others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG01891.hp1 | a0013 | a0013c0027 | a0013c0027t0009 | a0013c0027t0009g0030 | 1 | 106 | 0.0094 | -15 | c.705 others(24): Show |
p.Asn others(15): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 29/29 | 7316/10677 | 7053/7872 | 2351/2623 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MAU2_chr19_19315829_19363754 | 19320880 | AGCGGCCC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0116 | 1 | 342 | 0.0029 | -15 | c.33_ others(20): Show |
p.Ala others(11): Show |
MAU2 | ENSG00000129933.21 | transcript | ENST00000262815.13 | protein_coding | 1/19 | 64/4845 | 33/1842 | 11/613 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
MAZ_chr16_29801529_29816164 | 29810099 | GGCGGCGG others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG02735.hp2 HG03017.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 2 | 279 | 0.0072 | -15 | c.132 others(24): Show |
p.Ala others(13): Show |
MAZ | ENSG00000103495.15 | transcript | ENST00000322945.11 | protein_coding | 5/5 | 1493/2540 | 1320/1434 | 440/477 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
MAZ_chr16_29801529_29816164 | 29810105 | GGCAGCGG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG02165.hp2 HG02602.hp1 HG02683.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0004g0001 others(1): Show |
5 | 280 | 0.0179 | -9 | c.131 others(18): Show |
p.Ala others(13): Show |
MAZ | ENSG00000103495.15 | transcript | ENST00000322945.11 | protein_coding | 5/5 | 1484/2540 | 1311/1434 | 437/477 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
MCAM_chr11_119303529_119322130 | 119312056 | TCTC | T | disruptive_inframe_deletion | MODERATE | HG02622.hp1 HG02886.hp1 HG02922.hp2 |
a0004 | a0004c0008a0004c0017 | a0004c0008t0008a0004c0008t0043a0004c0017t0092 | a0004c0008t0008g0179 a0004c0008t0043g0180 a0004c0017t0092g0181 |
3 | 480 | 0.0063 | -3 | c.113 others(12): Show |
p.Arg others(19): Show |
MCAM | ENSG00000076706.17 | transcript | ENST00000264036.6 | protein_coding | 9/16 | 1167/3327 | 1136/1941 | 379/646 | chr11 | TogoVar | |||
MED15_chr22_20502610_20592619 | 20564628 | CCAG | C | disruptive_inframe_deletion | MODERATE | HG03579.hp1 NA18522.hp1 NA21309.hp1 |
a0007a0013 | a0007c0011a0013c0024 | a0007c0011t0001a0013c0024t0001 | a0007c0011t0001g0137 a0007c0011t0001g0138 a0013c0024t0001g0307 |
3 | 338 | 0.0089 | -3 | c.654 others(10): Show |
p.Gln others(6): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 6/18 | 723/3351 | 654/2367 | 218/788 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
MEF2A_chr15_99560984_99721488 | 99712504 | CCAG | C | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(69): Show |
a0003 | a0003c0003a0003c0009a0003c0012others(3): Show | a0003c0003t0002a0003c0003t0005a0003c0003t0007others(27): Show | a0003c0003t0002g0056 a0003c0003t0002g0291 a0003c0003t0002g0292 others(69): Show |
72 | 258 | 0.2791 | -3 | c.128 others(12): Show |
p.Gln others(6): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1628/5580 | 1283/1518 | 428/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAG | C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(83): Show |
a0002 | a0002c0002a0002c0010a0002c0013others(1): Show | a0002c0002t0006a0002c0002t0008a0002c0002t0009others(42): Show | a0002c0002t0006g0059 a0002c0002t0006g0086 a0002c0002t0006g0088 others(81): Show |
86 | 272 | 0.3162 | -6 | c.128 others(15): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1625/5580 | 1280/1518 | 427/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAGC others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00609.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0005 | a0005c0014 | a0005c0014t0003a0005c0014t0094 | a0005c0014t0003g0154 a0005c0014t0003g0155 a0005c0014t0003g0267 others(1): Show |
4 | 190 | 0.0211 | -9 | c.127 others(18): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1622/5580 | 1277/1518 | 426/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG03486.hp2 NA18947.hp2 NA19083.hp1 |
a0008 | a0008c0019a0008c0032 | a0008c0019t0001a0008c0032t0004 | a0008c0019t0001g0122 a0008c0019t0001g0123 a0008c0032t0004g0019 |
3 | 189 | 0.0159 | -12 | c.127 others(21): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1619/5580 | 1274/1518 | 425/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAGC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | NA19058.hp2 | a0014 | a0014c0029 | a0014c0029t0085 | a0014c0029t0085g0265 | 1 | 187 | 0.0053 | -18 | c.126 others(27): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1613/5580 | 1268/1518 | 423/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAGC others(14): Show |
C | disruptive_inframe_deletion | MODERATE | NA18961.hp1 NA18967.hp2 NA19064.hp1 |
a0009 | a0009c0016 | a0009c0016t0002a0009c0016t0118 | a0009c0016t0002g0317 a0009c0016t0002g0336 a0009c0016t0118g0327 |
3 | 189 | 0.0159 | -21 | c.126 others(30): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1610/5580 | 1265/1518 | 422/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MEF2A_chr15_99560984_99721488 | 99712522 | GCAGCAGC others(29): Show |
G | disruptive_inframe_deletion | MODERATE | HG03492.hp2 | a0012 | a0012c0028 | a0012c0028t0006 | a0012c0028t0006g0167 | 1 | 374 | 0.0027 | -36 | c.127 others(45): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1619/5580 | 1274/1518 | 425/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MEF2A_chr15_99560984_99721488 | 99712536 | AGCC | A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00597.hp2 HG01071.hp1 others(7): Show |
a0001a0002 | a0001c0006a0001c0021a0002c0002 | a0001c0006t0054a0001c0021t0005a0002c0002t0020others(4): Show | a0001c0006t0054g0105 a0001c0021t0005g0217 a0002c0002t0020g0007 others(7): Show |
10 | 372 | 0.0269 | -3 | c.129 others(12): Show |
p.Pro others(6): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1635/5580 | 1290/1518 | 430/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MEF2B_chr19_19140567_19175263 | 19147006 | CTCACCCC others(40): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA18989.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0236 | 1 | 401 | 0.0025 | -47 | c.524 others(57): Show |
p.Pro others(19): Show |
MEF2B | ENSG00000213999.17 | transcript | ENST00000424583.7 | protein_coding | 5/9 | 524/1107 | 175/368 | chr19 | TogoVar | ||||
MEGF9_chr9_120595811_120719470 | 120714264 | ACGGCGG | A | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(146): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(19): Show | a0001c0002t0001g0171 a0001c0002t0001g0189 a0001c0002t0002g0164 others(146): Show |
149 | 284 | 0.5246 | -6 | c.89_ others(11): Show |
p.Ala others(11): Show |
MEGF9 | ENSG00000106780.9 | transcript | ENST00000373930.4 | protein_coding | 1/6 | 206/6300 | 89/1809 | 30/602 | chr9 | TogoVar | |||
MEIOSIN_chr19_45728439_45769541 | 45761789 | ATCCAGC | A | disruptive_inframe_deletion | MODERATE | HG02040.hp2 HG02523.hp1 HG03831.hp1 |
a0007 | a0007c0009 | a0007c0009t0001a0007c0009t0002 | a0007c0009t0001g0114 a0007c0009t0001g0126 a0007c0009t0002g0049 |
3 | 145 | 0.0207 | -6 | c.138 others(15): Show |
p.Ser others(13): Show |
MEIOSIN | ENSG00000237452.3 | transcript | ENST00000457052.3 | protein_coding | 12/15 | 1617/2568 | 1389/1917 | 463/638 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
MEOX2_chr7_15606212_15691683 | 15686172 | ATGG | A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(238): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(34): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(228): Show |
241 | 350 | 0.6886 | -3 | c.228 others(10): Show |
p.His others(5): Show |
MEOX2 | ENSG00000106511.6 | transcript | ENST00000262041.6 | protein_coding | 1/3 | 511/2371 | 228/915 | 76/304 | chr7 | TogoVar | |||
MESP2_chr15_89771332_89783754 | 89776889 | GAGGGGCA others(17): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(195): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(12): Show |
198 | 392 | 0.5051 | -24 | c.558 others(31): Show |
p.Gly others(13): Show |
MESP2 | ENSG00000188095.6 | transcript | ENST00000341735.5 | protein_coding | 1/2 | 584/1640 | 558/1194 | 186/397 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
MESP2_chr15_89771332_89783754 | 89776903 | AGGGCAGG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0004a0002c0012others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(13): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0002g0004 others(14): Show |
168 | 392 | 0.4286 | -12 | c.558 others(19): Show |
p.Gly others(13): Show |
MESP2 | ENSG00000188095.6 | transcript | ENST00000341735.5 | protein_coding | 1/2 | 584/1640 | 558/1194 | 186/397 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
METTL17_chr14_20984980_21002035 | 20996603 | CCCGTATC others(26): Show |
C | disruptive_inframe_deletion | MODERATE | NA19010.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0035 | 1 | 476 | 0.0021 | -33 | c.116 others(42): Show |
p.Arg others(13): Show |
METTL17 | ENSG00000165792.18 | transcript | ENST00000339374.11 | protein_coding | 13/14 | 1183/1539 | 1160/1371 | 387/456 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
METTL17_chr14_20984980_21002035 | 20996707 | GGCAGGTA others(69): Show |
G | splice_acceptor_variant others(4): Show |
HIGH | NA18957.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0105 | 1 | 476 | 0.0021 | -76 | c.126 others(87): Show |
p.Arg others(6): Show |
METTL17 | ENSG00000165792.18 | transcript | ENST00000339374.11 | protein_coding | 13/14 | 1286/1539 | 1263/1371 | 421/456 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
MEX3C_chr18_51169550_51202681 | 51196775 | CGCCGCCG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(93): Show |
a0002 | a0002c0002a0002c0008a0002c0012others(2): Show | a0002c0002t0001a0002c0008t0001a0002c0008t0014others(3): Show | a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0009 others(33): Show |
96 | 374 | 0.2567 | -9 | c.537 others(16): Show |
p.Ala others(13): Show |
MEX3C | ENSG00000176624.12 | transcript | ENST00000406189.4 | protein_coding | 1/2 | 906/4142 | 537/1980 | 179/659 | chr18 | TogoVar | |||
MFGE8_chr15_88893683_88918379 | 88909773 | AGCACCCC others(92): Show |
A | stop_gained others(4): Show |
HIGH | HG01934.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0215 | 1 | 434 | 0.0023 | -99 | c.125 others(109): Show |
p.Ser others(17): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 2/8 | 125/1164 | 42/387 | chr15 | TogoVar | ||||
MFSD3_chr8_144504070_144516213 | 144509832 | TTTCTGCT others(26): Show |
T | disruptive_inframe_deletion | MODERATE | NA18946.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0004 | 1 | 398 | 0.0025 | -33 | c.500 others(40): Show |
p.Phe others(19): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 1/5 | 764/1552 | 500/1239 | 167/412 | chr8 | TogoVar | |||
MICALL2_chr7_1429359_1464470 | 1445228 | TTGTTTGC others(8): Show |
T | disruptive_inframe_deletion | MODERATE | NA18948.hp2 | a0041 | a0041c0036 | a0041c0036t0001 | a0041c0036t0001g0137 | 1 | 278 | 0.0036 | -15 | c.827 others(22): Show |
p.Ala others(19): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 6/17 | 985/3096 | 827/2715 | 276/904 | chr7 | TogoVar | |||
MIOX_chr22_50481859_50495648 | 50489045 | TGTCGTCG others(17): Show |
T | disruptive_inframe_deletion | MODERATE | HG01257.hp1 | a0003 | a0003c0008 | a0003c0008t0016 | a0003c0008t0016g0033 | 1 | 434 | 0.0023 | -24 | c.416 others(31): Show |
p.Val others(13): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 6/10 | 455/1689 | 416/858 | 139/285 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
MLXIP_chr12_122073756_122152344 | 122138895 | AATACGTG others(8): Show |
A | disruptive_inframe_deletion | MODERATE | NA19060.hp2 | a0014 | a0014c0022 | a0014c0022t0023 | a0014c0022t0023g0261 | 1 | 352 | 0.0028 | -15 | c.246 others(24): Show |
p.Tyr others(13): Show |
MLXIP | ENSG00000175727.15 | transcript | ENST00000319080.12 | protein_coding | 15/17 | 2564/8390 | 2466/2760 | 822/919 | chr12 | TogoVar | |||
MMP24OS_chr20_35271352_35283122 | 35277855 | AGGCTGGG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG02630.hp2 HG02809.hp2 HG03209.hp1 |
a0004 | a0004c0006 | a0004c0006t0005a0004c0006t0011 | a0004c0006t0005g0032 a0004c0006t0011g0015 |
3 | 362 | 0.0083 | -12 | c.63_ others(17): Show |
p.Gln others(11): Show |
MMP24OS | ENSG00000126005.17 | transcript | ENST00000456790.2 | protein_coding | 2/2 | 191/1695 | 63/216 | 21/71 | chr20 | TogoVar | |||
MN1_chr22_27743277_27806756 | 27798906 | CTGCTGT | C | disruptive_inframe_deletion | MODERATE | HG00621.hp2 HG00741.hp2 HG01167.hp1 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002a0003c0004t0005others(1): Show | a0003c0004t0001g0240 a0003c0004t0001g0242 a0003c0004t0001g0244 others(7): Show |
12 | 392 | 0.0306 | -6 | c.163 others(15): Show |
p.Gln others(13): Show |
MN1 | ENSG00000169184.7 | transcript | ENST00000302326.5 | protein_coding | 1/2 | 2850/7814 | 1632/3963 | 544/1320 | chr22 | TogoVar | |||
MN1_chr22_27743277_27806756 | 27798945 | TTGC | T | disruptive_inframe_deletion | MODERATE | HG03225.hp1 HG03710.hp2 NA18522.hp2 |
a0005 | a0005c0011 | a0005c0011t0004a0005c0011t0009a0005c0011t0019 | a0005c0011t0004g0279 a0005c0011t0009g0015 a0005c0011t0019g0016 |
3 | 353 | 0.0085 | -3 | c.159 others(12): Show |
p.Gln others(6): Show |
MN1 | ENSG00000169184.7 | transcript | ENST00000302326.5 | protein_coding | 1/2 | 2811/7814 | 1596/3963 | 532/1320 | chr22 | TogoVar | |||
MOG_chr6_29652092_29677365 | 29657255 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00642.hp2 HG00735.hp2 others(26): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0009a0003c0003t0015others(3): Show | a0003c0003t0002g0004 a0003c0003t0002g0042 a0003c0003t0009g0019 others(19): Show |
29 | 438 | 0.0662 | -3 | c.65_ others(8): Show |
p.Leu others(5): Show |
MOG | ENSG00000204655.12 | transcript | ENST00000376917.8 | protein_coding | 1/8 | 183/2042 | 65/744 | 22/247 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MPRIP_chr17_17037457_17197643 | 17136247 | CCAG | C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(224): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(101): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(224): Show |
227 | 281 | 0.8078 | -3 | c.566 others(10): Show |
p.Ser others(6): Show |
MPRIP | ENSG00000133030.22 | transcript | ENST00000651222.2 | protein_coding | 6/24 | 958/15419 | 566/7278 | 189/2425 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MPRIP_chr17_17037457_17197643 | 17136247 | CCAGCAG | C | disruptive_inframe_deletion | MODERATE | HG00423.hp1 HG00438.hp1 HG02056.hp1 others(26): Show |
a0003 | a0003c0004a0003c0012a0003c0044 | a0003c0004t0004a0003c0004t0011a0003c0004t0026others(6): Show | a0003c0004t0004g0269 a0003c0004t0004g0275 a0003c0004t0004g0277 others(26): Show |
29 | 83 | 0.3494 | -6 | c.563 others(13): Show |
p.Ser others(13): Show |
MPRIP | ENSG00000133030.22 | transcript | ENST00000651222.2 | protein_coding | 6/24 | 955/15419 | 563/7278 | 188/2425 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MPRIP_chr17_17037457_17197643 | 17136247 | CCAGCAGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG06807.hp2 | a0007 | a0007c0041 | a0007c0041t0002 | a0007c0041t0002g0029 | 1 | 55 | 0.0182 | -12 | c.557 others(19): Show |
p.Ser others(13): Show |
MPRIP | ENSG00000133030.22 | transcript | ENST00000651222.2 | protein_coding | 6/24 | 949/15419 | 557/7278 | 186/2425 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MPRIP_chr17_17037457_17197643 | 17136247 | CCAGCAGC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | NA19090.hp2 | a0009 | a0009c0042 | a0009c0042t0032 | a0009c0042t0032g0007 | 1 | 55 | 0.0182 | -15 | c.554 others(22): Show |
p.Ser others(13): Show |
MPRIP | ENSG00000133030.22 | transcript | ENST00000651222.2 | protein_coding | 6/24 | 946/15419 | 554/7278 | 185/2425 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MRPL18_chr6_159785467_159803429 | 159790613 | GGTT | G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 others(45): Show |
263 | 406 | 0.6478 | -3 | c.30_ others(8): Show |
p.Leu others(5): Show |
MRPL18 | ENSG00000112110.10 | transcript | ENST00000367034.5 | protein_coding | 1/4 | 151/970 | 30/543 | 10/180 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MSH3_chr5_80649652_80881815 | 80654880 | TGCAGCGG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | NA18952.hp2 NA18974.hp2 NA18999.hp2 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0002a0008c0009t0016 | a0008c0009t0002g0041 a0008c0009t0002g0066 a0008c0009t0002g0077 others(2): Show |
5 | 360 | 0.0139 | -18 | c.162 others(25): Show |
p.Ala others(11): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 238/4443 | 162/3414 | 54/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MSH3_chr5_80649652_80881815 | 80654887 | GCTGCAGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(55): Show |
a0003a0005a0007 | a0003c0003a0005c0006a0007c0010others(1): Show | a0003c0003t0003a0003c0003t0012a0003c0003t0014others(5): Show | a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0006 others(55): Show |
58 | 360 | 0.1611 | -27 | c.162 others(34): Show |
p.Ala others(11): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 238/4443 | 162/3414 | 54/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MSH3_chr5_80649652_80881815 | 80654908 | GCAGCGCC others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG02145.hp1 HG02647.hp2 NA18522.hp2 |
a0013 | a0013c0015 | a0013c0015t0011 | a0013c0015t0011g0300 a0013c0015t0011g0301 a0013c0015t0011g0302 |
3 | 345 | 0.0087 | -9 | c.195 others(16): Show |
p.Pro others(11): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 271/4443 | 195/3414 | 65/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MTERF4_chr2_241090571_241107287 | 241096043 | CTCG | C | disruptive_inframe_deletion | MODERATE | HG02145.hp2 HG02486.hp2 HG02559.hp1 others(6): Show |
a0004 | a0004c0004a0004c0011 | a0004c0004t0001a0004c0011t0001 | a0004c0004t0001g0008 a0004c0004t0001g0034 a0004c0004t0001g0035 others(1): Show |
9 | 396 | 0.0227 | -3 | c.109 others(12): Show |
p.Asp others(6): Show |
MTERF4 | ENSG00000122085.17 | transcript | ENST00000391980.7 | protein_coding | 4/4 | 1114/1587 | 1098/1146 | 366/381 | chr2 | TogoVar | |||
MTERF4_chr2_241090571_241107287 | 241096100 | CTCA | C | disruptive_inframe_deletion | MODERATE | HG01496.hp1 HG02109.hp1 HG02723.hp1 others(2): Show |
a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0010 | 5 | 396 | 0.0126 | -3 | c.104 others(12): Show |
p.Asp others(6): Show |
MTERF4 | ENSG00000122085.17 | transcript | ENST00000391980.7 | protein_coding | 4/4 | 1057/1587 | 1041/1146 | 347/381 | chr2 | TogoVar |