Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
IBA57_chr1_228160804_228187257	228174111	GGCTGTGG others(137): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCG CTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCT GTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02723.hp2 others(1): Show HG01884.hp1 HG02572.hp2 HG02723.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0113 a0001c0001t0016 a0001c0001t0024 a0001c0001t0113	a0001c0001t0016g0060 a0001c0001t0024g0123 a0001c0001t0113g0207 a0001c0001t0016g0060 a0001c0001t0024g0123 a0001c0001t0113g0207	4	416	0.0096	-144	c.342 others(15): Show c.342-324_342-181del		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174368	GCTGTGGG others(137): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02071.hp1 HG02080.hp1 others(14): Show HG01517.hp1 HG02071.hp1 HG02080.hp1 HG02148.hp1 HG02148.hp2 HG02486.hp1 HG02523.hp2 HG03654.hp1 NA18955.hp2 NA18959.hp1 NA19068.hp1 NA19084.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0058 a0001c0001t0127 a0002c0002t0001 a0002c0002t0034 a0002c0002t0099 a0002c0002t0150 a0002c0002t0155 a0007c0011t0005	a0001c0001t0005g0094 a0001c0001t0006g0099 a0001c0001t0007g0111 others(14): Show a0001c0001t0005g0094 a0001c0001t0006g0099 a0001c0001t0007g0111 a0001c0001t0011g0063 a0001c0001t0011g0223 a0001c0001t0013g0042 a0001c0001t0015g0093 a0001c0001t0021g0115 a0001c0001t0058g0216 a0001c0001t0127g0063 a0002c0002t0001g0031 a0002c0002t0001g0172 a0002c0002t0034g0151 a0002c0002t0099g0031 a0002c0002t0150g0031 a0002c0002t0155g0153 a0007c0011t0005g0042	17	416	0.0409	-144	c.342 others(15): Show c.342-320_342-177del		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
IFT172_chr2_27439377_27494743	27446978	CGTGAGCC others(137): Show CGTGAGCCACCGCGCCCGGCCAACCTGGCTAATTTTTATGTTTTTAGTAG AGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCA AGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	224	0.0045	-144	c.465 others(17): Show c.4659+393_4659+536del		IFT172	ENSG00000138002.16	transcript	ENST00000260570.8	protein_coding	42/47						chr2	TogoVar
IGLL5_chr22_22882816_22901111	22888295	CTGCAGCA others(137): Show CTGCAGCAGAGCTGGGAAAGGGTGACCAAGGGGAGACAAGCCAGAGGAGT GAGGAGGAAGGTTAACCCCTAAGAGGGGCCTGGGCTGACACTGGCTTTAG TAATGGGTTGATATTTTGTCCATCACAGATTTGTTTGAATTACTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0165 a0001c0007t0006g0165	1	302	0.0033	-144	c.206 others(14): Show c.206+38_206+181del		IGLL5	ENSG00000254709.8	transcript	ENST00000526893.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr22	TogoVar
IL21R_chr16_27397174_27457042	27448643	CCAAGAGG others(137): Show CCAAGAGGCTGCAGCTCACGGAGCTACAAGAACCAGCAGAGCTGGTGGAG TCTGACGGTGTGCCCAAGCCCAGCTTCTGGCCGACAGCCCAGAACTCGGG GGGCTCAGCTTACAGTGAGGAGAGGGATCGGCCATACGGCCTGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0007 a0005c0010t0007	a0005c0010t0007g0230 a0005c0010t0007g0230	1	372	0.0027	-144	c.978 others(8): Show c.978_1121del	p.Lys others(13): Show p.Lys327_Val374del	IL21R	ENSG00000103522.17	transcript	ENST00000337929.8	protein_coding	9/9	1439/4837	978/1617	326/538			chr16	TogoVar
IL3RA_chrX_1331785_1387689	1365475	GGGGTGAG others(137): Show GGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGCGCGGGGT GAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCG GGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	115	0.0087	-144	c.874 others(15): Show c.874+238_874+381del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366049	GGTGCGCG others(137): Show GGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGC GCGGCGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGG GTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	115	0.0087	-144	c.874 others(15): Show c.874+801_874+944del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367194	CGCCGGGT others(137): Show CGCCGGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGG GGTGCGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGC GCGGGGTGCGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	115	0.0087	-144	c.874 others(17): Show c.874+1945_874+2088del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367206	GGGGTGAG others(137): Show GGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGT GCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCG GGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01975.hp2 HG02004.hp1 others(2): Show HG00140.hp1 HG01975.hp2 HG02004.hp1 HG02602.hp2 NA19058.hp1	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0001 a0005c0012 a0015c0017 a0001c0001 a0005c0012 a0015c0017	a0001c0001t0004 a0005c0012t0003 a0015c0017t0001 a0001c0001t0004 a0005c0012t0003 a0015c0017t0001	a0001c0001t0004g0052 a0001c0001t0004g0065 a0001c0001t0004g0076 others(2): Show a0001c0001t0004g0052 a0001c0001t0004g0065 a0001c0001t0004g0076 a0005c0012t0003g0020 a0015c0017t0001g0004	5	115	0.0435	-144	c.874 others(17): Show c.874+1969_874+2112del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367338	AGCGGGGT others(137): Show AGCGGGGTGAGCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGG GGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGA GCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0086 a0001c0001t0006g0086	1	115	0.0087	-144	c.874 others(17): Show c.874+2104_874+2247del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132724644	TTCTCCAG others(137): Show TTCTCCAGAACTCACAGGGAGGCCCCAGGACGACAGGAGCACACGCCATA TTCACCGCAGATGGGGGTTACTCACTCTCCATAACTCACAGGGAGGCCCC AGGATGACAGGTGCACATGCCATATTCACCACAGACGGGGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	204	0.0049	-144	c.648 others(17): Show c.648-2162_648-2019del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
IPO11_chr5_62407763_62633582	62598405	TTTCTTTC others(137): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02132.hp2 HG01515.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0218 a0001c0003t0001g0063 a0001c0002t0001g0218 a0001c0003t0001g0063	2	330	0.0061	-144	c.267 others(19): Show c.2679-3356_2679-3213del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITIH2_chr10_7698316_7754520	7737927	ATTATATA others(137): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTATATATTATATATTATATTC TATATATTATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp2 HG03041.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0248 a0001c0001t0001g0195 a0001c0001t0001g0248	2	380	0.0053	-144	c.195 others(17): Show c.1958-693_1958-550del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737990	ATTATATA others(137): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTATATATTATATATTATATTC TATATATTATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0349 a0001c0002t0001g0349	1	380	0.0026	-144	c.195 others(17): Show c.1958-630_1958-487del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738030	ATATTATA others(137): Show ATATTATATATTATATTCTATATATTATATATTATATTCTATATATTATA TATTATATTCTATATATTATATATTATATTCTATATATTATATATTATAT TCTATATATTATATATTATATTCTATATATTATATATTATATTCT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01346.hp2 HG02074.hp1 others(27): Show HG00597.hp2 HG01346.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02559.hp1 HG03225.hp1 NA18940.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18961.hp1 NA18968.hp2 NA18971.hp1 NA18981.hp1 NA18982.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp1 NA19007.hp1 NA19007.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19068.hp1 NA19082.hp1 NA19090.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0017 others(2): Show a0001c0001 a0001c0002 a0001c0017 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 a0002c0003t0001 a0005c0007t0002	a0001c0001t0001g0235 a0001c0002t0001g0001 a0001c0002t0001g0006 others(23): Show a0001c0001t0001g0235 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0294 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0335 a0001c0002t0001g0343 a0001c0017t0001g0217 a0002c0003t0001g0028 a0002c0003t0001g0031 a0002c0003t0001g0034 a0005c0007t0002g0344 a0005c0007t0002g0345 a0005c0007t0002g0346 a0005c0007t0002g0347 a0005c0007t0002g0348	30	380	0.0790	-144	c.195 others(17): Show c.1958-590_1958-447del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7629194	TCCCTGTT others(137): Show TCCCTGTTGTAGCGTGTGTCCCTGTTGTAGCGTGTGCCCATGTTGTAGCG TGTGTCCATGTTGTAGCGTGTGTCCATGTTGTAGCGTGTGTCCCTGTTGT AGCGTGTGTCCATGTTGTAGCGTGTGCCCATGTTGTAGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01975.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02155.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG04204.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18961.hp2 NA18970.hp2 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19012.hp1 NA19064.hp2 NA19066.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(8): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0014 a0027 a0028	a0000c0026 a0001c0001 a0001c0023 others(13): Show a0000c0026 a0001c0001 a0001c0023 a0001c0067 a0002c0004 a0002c0009 a0003c0002 a0003c0005 a0004c0008 a0004c0022 a0005c0010 a0006c0012 a0009c0027 a0014c0064 a0027c0060 a0028c0068	a0000c0026t0007 a0001c0001t0001 a0001c0001t0010 others(20): Show a0000c0026t0007 a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 a0001c0023t0001 a0001c0067t0001 a0002c0004t0001 a0002c0004t0019 a0002c0009t0001 a0002c0009t0010 a0003c0002t0001 a0003c0002t0002 a0003c0002t0005 a0003c0005t0002 a0004c0008t0002 a0004c0008t0029 a0004c0022t0002 a0005c0010t0001 a0006c0012t0001 a0009c0027t0001 a0014c0064t0064 a0027c0060t0018 a0028c0068t0005	a0000c0026t0007g0068 a0001c0001t0001g0017 a0001c0001t0001g0019 others(61): Show a0000c0026t0007g0068 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0010g0045 a0001c0001t0024g0026 a0001c0023t0001g0032 a0001c0023t0001g0064 a0001c0067t0001g0018 a0002c0004t0001g0001 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0055 a0002c0004t0001g0073 a0002c0004t0001g0091 a0002c0004t0001g0174 a0002c0004t0019g0075 a0002c0009t0001g0061 a0002c0009t0001g0062 a0002c0009t0010g0024 a0003c0002t0001g0034 a0003c0002t0001g0036 a0003c0002t0001g0044 a0003c0002t0001g0048 a0003c0002t0001g0050 a0003c0002t0001g0060 a0003c0002t0001g0071 a0003c0002t0001g0076 a0003c0002t0001g0077 a0003c0002t0001g0224 a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0049 a0003c0002t0005g0078 a0003c0005t0002g0293 a0004c0008t0002g0088 a0004c0008t0029g0072 a0004c0022t0002g0025 a0005c0010t0001g0041 a0005c0010t0001g0058 a0006c0012t0001g0047 a0006c0012t0001g0051 a0009c0027t0001g0035 a0014c0064t0064g0054 a0027c0060t0018g0028 a0028c0068t0005g0053	65	342	0.1901	-144	c.652 others(17): Show c.652+7890_652+8033del		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13						chr10	TogoVar
KCNC3_chr19_50306937_50334377	50325380	ACCACAGA others(137): Show ACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTC CCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTT CACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG02723.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0032 a0001c0020t0096 a0001c0001t0032 a0001c0020t0096	a0001c0001t0032g0262 a0001c0020t0096g0263 a0001c0001t0032g0262 a0001c0020t0096g0263	2	380	0.0053	-144	c.871 others(17): Show c.871-1442_871-1299del		KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding	1/4						chr19	TogoVar
KCNJ6_chr21_37602373_37921457	37757187	ATGGTACC others(137): Show ATGGTACCAGCCTTGGTGAGCTGTCTCTCACAGTGTGATGATTCCAGCCT GGAGTGAGCACTCCCTCACAGTGTGATGATTCCAGCCTGGAGTGAGCACT CCCTCACAGCTATGATGTTTCCAGCCTAAGTGAGCACTCCTTCAC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02572.hp2 others(5): Show HG01257.hp2 HG01258.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02976.hp1 HG03453.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0027 a0001c0001t0101 a0001c0001t0166 others(5): Show a0001c0001t0027 a0001c0001t0101 a0001c0001t0166 a0001c0001t0168 a0001c0001t0181 a0001c0002t0152 a0002c0005t0170 a0002c0005t0171	a0001c0001t0027g0048 a0001c0001t0101g0063 a0001c0001t0166g0146 others(5): Show a0001c0001t0027g0048 a0001c0001t0101g0063 a0001c0001t0166g0146 a0001c0001t0168g0099 a0001c0001t0181g0093 a0001c0002t0152g0148 a0002c0005t0170g0136 a0002c0005t0171g0135	8	198	0.0404	-144	c.26- others(17): Show c.26-42200_26-42057del		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3						chr21	TogoVar
KLHL18_chr3_47277944_47351816	47316645	GTGTGTGT others(137): Show GTGTGTGTATATATACATATATACGTATATATGTATATGTGTGTGTATAT ATACATATATACGTATATATGTATATGTGTGTGTATATATACATATATAC GTATATATGTATATGTGTGTGTATATATACATATATACATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20752.hp2 HG00738.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0230 a0001c0001t0001g0231	2	338	0.0059	-144	c.130 others(17): Show c.130-2993_130-2850del		KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNDC1_chr10_133155219_133231412	133203109	CGTCCAGC others(137): Show CGTCCAGCGGGGAGCACTCGGCCCCCAAACGCACGGCGTCCAGCGGGGAG CACTCGGCCCCCAAACGCACAGAGTCCAGCGGGGAGCACTCGGCCCCCAA ACGCACGGCGTCCAGTGGGGAGCACTCGGCCCCCAAACGCACAGA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0144 a0001c0004t0007g0144	1	332	0.0030	-144	c.338 others(19): Show c.3387+1241_3387+1384del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KRTAP5-9_chr11_71543420_71554608	71548924	TTCAGGCT others(137): Show TTCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACT GCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGG TCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02258.hp1 HG03130.hp1 others(2): Show HG01891.hp1 HG02258.hp1 HG03130.hp1 HG03225.hp2 HG03579.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0000 a0005c0005t0005g0000	5	422	0.0119	-144	c.296 others(7): Show c.296_439del	p.Cys others(12): Show p.Cys99_Gln146del	KRTAP5-9	ENSG00000254997.4	transcript	ENST00000528743.4	protein_coding	1/1	534/1189	296/510	99/169		INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTCAP3_chr2_27437381_27449297	27446978	CGTGAGCC others(137): Show CGTGAGCCACCGCGCCCGGCCAACCTGGCTAATTTTTATGTTTTTAGTAG AGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCA AGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	-144	c.27 others(11): Show c.2799_*2942del		KRTCAP3	ENSG00000157992.12	transcript	ENST00000288873.7	protein_coding					2682		chr2	TogoVar
LAMP1_chr13_113292239_113328672	113314103	CGTGTGCC others(137): Show CGTGTGCCTGGGGCGTGGCCTCCCGGAGGGAGTCAGTGTGGAGATGCCCG TGTGCCTGGGGCGTGGCCTACTAGAGGGAGTCAGTGTGGAGATGCCCGTG TGCCTGGGGCGTGGCCTCCTGGAGGGAACCAGTGCGGAGATGTCG	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	354	0.0028	-144	c.562 others(17): Show c.562+3282_562+3425del		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113315125	TGGCCTCC others(137): Show TGGCCTCCTGGAGGGAGTCAGTGCGGAGATGCCCGTGTGCCTGGGGCGTG GCCTCCCGGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGC CTCCTGGAGGGAGCCAGTGCGGAGATGCCAGTGTGCCTGGGGCGG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	354	0.0028	-144	c.562 others(17): Show c.562+4274_563-4185del		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LDHAL6A_chr11_18450856_18484601	18467905	ATATATAT others(137): Show ATATATATATATATACACACACATATATATATACACACACATATATATAT ACGTATATATATACGTATATATATACGTATATATATGCATATATATACGT ATATATATACATATATATACGTATATATATATACATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02698.hp2 NA18991.hp1 others(1): Show HG01943.hp1 HG02698.hp2 NA18991.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0051 a0001c0001t0002 a0001c0001t0051	a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0185 others(1): Show a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0185 a0001c0001t0051g0162	4	420	0.0095	-144	c.418 others(17): Show c.418+2108_418+2251del		LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(137): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03704.hp2 HG01081.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0112 a0001c0001t0002 a0001c0001t0112	a0001c0001t0002g0256 a0001c0001t0112g0020 a0001c0001t0002g0256 a0001c0001t0112g0020	2	384	0.0052	-144	c.794 others(17): Show c.794-2320_794-2177del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(137): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	238	0.0042	-144	c.179 others(19): Show c.1791+1293_1792-1405del		LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20						chrX	TogoVar
LRCOL1_chr12_132598151_132615582	132598516	CCCTCCTC others(137): Show CCCTCCTCTCCGCGCGTCCCCTCCTCTCCGCGCGCCCCTGCTCCTCTCCG CGCGCCCCTCCTCTCCGCTCGCCCCTCCTCTCCGCTCGCCCCTCCTCTCC GCGCGCCCCTCCTCTCCGCTCGCCCCTCCTCTCCGCGCGCCCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG03492.hp2 HG01106.hp1 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0009 a0003c0003t0001g0026 a0001c0004t0001g0009 a0003c0003t0001g0026	2	390	0.0051	-144	c.47 others(11): Show c.4742_*4885del		LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding					4634		chr12	TogoVar
MAD1L1_chr7_1810795_2237945	1937988	AGCAGGGA others(137): Show AGCAGGGAGGTGCAGGGTCACTGCGCACCCGAGACCCCGACCTCACGCCA CACACAAACATCAGCCGCCCACGGCAGGGAGGTGCAGGGTCACTGCGCAC CCGAGACCCCGACCTCACGCCACACACAAACATCAGCCGCCCACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA20752.hp1 HG01109.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0168 a0001c0003t0001g0039 a0001c0001t0001g0168 a0001c0003t0001g0039	2	264	0.0076	-144	c.159 others(19): Show c.1597-1235_1597-1092del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18						chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452173	GAGAAGAG others(137): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	163	0.0061	-144	c.995 others(17): Show c.995+4596_995+4739del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101785663	TTTCTTTC others(137): Show TTTCTTTCTTTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00609.hp2 others(56): Show HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02148.hp2 HG02300.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18955.hp2 NA18956.hp2 NA18962.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18984.hp1 NA18989.hp1 NA18999.hp2 NA19009.hp2 NA19080.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0051 a0001c0001t0052 a0001c0002t0005 a0001c0002t0037 a0001c0005t0002	a0001c0001t0001g0008 a0001c0001t0002g0072 a0001c0001t0002g0080 others(56): Show a0001c0001t0001g0008 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0004g0144 a0001c0001t0007g0009 a0001c0001t0012g0066 a0001c0001t0014g0197 a0001c0001t0015g0082 a0001c0001t0015g0209 a0001c0001t0015g0225 a0001c0001t0015g0245 a0001c0001t0015g0262 a0001c0001t0020g0206 a0001c0001t0020g0244 a0001c0001t0020g0256 a0001c0001t0021g0198 a0001c0001t0024g0231 a0001c0001t0024g0254 a0001c0001t0024g0255 a0001c0001t0029g0235 a0001c0001t0030g0259 a0001c0001t0030g0260 a0001c0001t0031g0081 a0001c0001t0031g0261 a0001c0001t0032g0210 a0001c0001t0032g0211 a0001c0001t0051g0246 a0001c0001t0052g0258 a0001c0002t0005g0196 a0001c0002t0005g0214 a0001c0002t0005g0218 a0001c0002t0005g0223 a0001c0002t0037g0164 a0001c0005t0002g0233	59	310	0.1903	-144	c.124 others(17): Show c.124-5044_124-4901del		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPK8IP2_chr22_50595793_50618978	50616778	CGAGGTCA others(137): Show CGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGATGAAGCTCCATCT GTACTAAAAATATAAAAAATTAGCCAGGCGTGGCCAGGCTCAGTGGCTCA CACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(107): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18990.hp1 NA18992.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19059.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0001c0013	a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 others(26): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0037 a0001c0001t0044 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0022 a0001c0002t0024 a0001c0002t0036 a0001c0003t0004 a0001c0004t0002 a0001c0004t0035 a0001c0006t0002 a0001c0006t0015 a0001c0010t0002 a0001c0010t0009 a0001c0010t0013 a0001c0010t0042 a0001c0011t0002 a0001c0011t0033 a0001c0011t0046 a0001c0012t0002 a0001c0012t0034 a0001c0013t0014	a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0049 others(47): Show a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0079 a0001c0001t0009g0078 a0001c0001t0013g0012 a0001c0001t0037g0110 a0001c0001t0044g0012 a0001c0002t0002g0002 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0002t0002g0086 a0001c0002t0002g0115 a0001c0002t0009g0002 a0001c0002t0010g0021 a0001c0002t0017g0022 a0001c0002t0018g0022 a0001c0002t0019g0002 a0001c0002t0022g0002 a0001c0002t0024g0067 a0001c0002t0036g0016 a0001c0003t0004g0036 a0001c0004t0002g0002 a0001c0004t0035g0073 a0001c0006t0002g0017 a0001c0006t0002g0068 a0001c0006t0002g0102 a0001c0006t0015g0017 a0001c0010t0002g0047 a0001c0010t0009g0045 a0001c0010t0013g0031 a0001c0010t0042g0046 a0001c0011t0002g0012 a0001c0011t0002g0087 a0001c0011t0033g0048 a0001c0011t0046g0071 a0001c0012t0002g0041 a0001c0012t0002g0108 a0001c0012t0034g0109 a0001c0013t0014g0037	110	436	0.2523	-144	c.60 others(11): Show c.6000_*6143del		MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding					2801		chr22	TogoVar
MCF2L_chr13_112964214_113104742	113033050	ATGACGTG others(137): Show ATGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCATGAGTGGC TGCCATGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGACATTAG TGGACCCCGTGGCGTGAGTGGCCCCCATGACGTGAGTGGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03098.hp1 HG01496.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0023 a0001c0005t0025 a0001c0001t0023 a0001c0005t0025	a0001c0001t0023g0018 a0001c0005t0025g0016 a0001c0001t0023g0018 a0001c0005t0025g0016	2	116	0.0172	-144	c.278 others(17): Show c.278+8309_278+8452del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MED16_chr19_862963_898187	873016	GGTGGGGC others(137): Show GGTGGGGCAGGGCTCCGAGGTGGGGCAGGGCTCCGAGGTGGGGCAGGGCT CCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGCAG GGCTCCGAGATGGGGCAGGGCTCCGAGGTGGGGCAGGGCTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0005 a0002c0012t0005	a0002c0012t0005g0025 a0002c0012t0005g0025	1	56	0.0179	-144	c.190 others(17): Show c.1905+289_1905+432del		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MEGF6_chr1_3482951_3616508	3583286	CCACAGCC others(137): Show CCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0024 a0024	a0024c0030 a0024c0030	a0024c0030t0030 a0024c0030t0030	a0024c0030t0030g0269 a0024c0030t0030g0269	1	292	0.0034	-144	c.377 others(17): Show c.377-3501_377-3358del		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MGAM_chr7_141990879_142111747	142044586	TATATTAT others(137): Show TATATTATATACACGTGTAATATATGATATATAATGTATATTATATACAC GTGTAATATATGATATATAATGTATATTATATACACGTGTAATATATGAT GTATAATGAATATTATATACACGTGTAATATATGATGTATAATGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00738.hp1 others(55): Show HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG02015.hp2 HG02071.hp2 HG02080.hp2 HG02300.hp1 HG02683.hp2 HG02698.hp1 HG03017.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19007.hp1 NA19058.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0013 a0023 a0044 a0046 a0051 a0052 a0060	a0001c0001 a0001c0004 a0001c0005 others(20): Show a0001c0001 a0001c0004 a0001c0005 a0001c0015 a0001c0023 a0001c0024 a0001c0028 a0001c0083 a0001c0092 a0001c0111 a0002c0013 a0002c0067 a0003c0006 a0003c0012 a0003c0027 a0005c0053 a0013c0044 a0023c0029 a0044c0101 a0046c0086 a0051c0055 a0052c0096 a0060c0049	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(20): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0015t0001 a0001c0023t0001 a0001c0024t0001 a0001c0028t0001 a0001c0083t0001 a0001c0092t0001 a0001c0111t0001 a0002c0013t0001 a0002c0067t0001 a0003c0006t0001 a0003c0012t0001 a0003c0027t0001 a0005c0053t0001 a0013c0044t0001 a0023c0029t0001 a0044c0101t0001 a0046c0086t0001 a0051c0055t0001 a0052c0096t0001 a0060c0049t0001	a0001c0001t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0131 others(54): Show a0001c0001t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0004t0001g0048 a0001c0004t0001g0072 a0001c0004t0001g0094 a0001c0004t0001g0168 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0180 a0001c0004t0001g0229 a0001c0004t0001g0256 a0001c0005t0001g0045 a0001c0005t0001g0191 a0001c0005t0001g0211 a0001c0005t0001g0214 a0001c0005t0001g0258 a0001c0005t0001g0278 a0001c0015t0001g0198 a0001c0023t0001g0106 a0001c0023t0001g0179 a0001c0024t0001g0001 a0001c0028t0001g0128 a0001c0028t0001g0129 a0001c0083t0001g0290 a0001c0092t0001g0220 a0001c0111t0001g0227 a0002c0013t0001g0093 a0002c0013t0001g0118 a0002c0067t0001g0030 a0003c0006t0001g0155 a0003c0012t0001g0107 a0003c0012t0001g0177 a0003c0012t0001g0188 a0003c0012t0001g0212 a0003c0027t0001g0127 a0003c0027t0001g0132 a0005c0053t0001g0181 a0013c0044t0001g0296 a0013c0044t0001g0297 a0023c0029t0001g0248 a0044c0101t0001g0275 a0046c0086t0001g0249 a0051c0055t0001g0186 a0052c0096t0001g0266 a0060c0049t0001g0102	58	316	0.1835	-144	c.249 others(19): Show c.2499-3099_2499-2956del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MICALL2_chr7_1429359_1464470	1444118	ACCTGTCC others(137): Show ACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGAC CTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCT GTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG06807.hp1 NA18906.hp1 HG03041.hp1 HG06807.hp1 NA18906.hp1	a0025 a0034 a0035 a0025 a0034 a0035	a0025c0058 a0034c0043 a0035c0040 a0025c0058 a0034c0043 a0035c0040	a0025c0058t0002 a0034c0043t0002 a0035c0040t0002 a0025c0058t0002 a0034c0043t0002 a0035c0040t0002	a0025c0058t0002g0161 a0034c0043t0002g0160 a0035c0040t0002g0157 a0025c0058t0002g0161 a0034c0043t0002g0160 a0035c0040t0002g0157	3	280	0.0107	-144	c.141 others(17): Show c.1418+390_1418+533del		MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16						chr7	TogoVar
MLPH_chr2_237482251_237560322	237544504	GGGGGGAC others(137): Show GGGGGGACAGTGGTGAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACT TTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTG TCAGTGTGTGGTGGTGGTCAGTGGTGATTGGGCACTGTAGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03831.hp1 HG02165.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0002g0158 a0001c0001t0001g0199 a0001c0001t0002g0158	2	286	0.0070	-144	c.153 others(19): Show c.1539+1851_1540-1953del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MOV10L1_chr22_50085006_50166687	50147175	GGCAGGCC others(137): Show GGCAGGCCGCTCTCTCAGAGGCACTCTGTGCAGAAGCAGGGAGGGTGCTG CAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCA GGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01123.hp2 others(33): Show HG00140.hp1 HG00280.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01884.hp1 HG02083.hp2 HG02145.hp2 HG02273.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03688.hp1 HG03710.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18950.hp2 NA18955.hp2 NA18965.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18985.hp1 NA18999.hp2 NA19030.hp2 NA19064.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA19089.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0012	a0001c0001 a0001c0007 a0002c0002 others(6): Show a0001c0001 a0001c0007 a0002c0002 a0002c0010 a0002c0013 a0003c0003 a0003c0012 a0007c0015 a0012c0018	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0002c0002t0002 a0002c0002t0004 a0002c0010t0002 a0002c0013t0002 a0003c0003t0002 a0003c0012t0002 a0007c0015t0002 a0012c0018t0001	a0001c0001t0001g0147 a0001c0001t0001g0209 a0001c0001t0001g0225 others(33): Show a0001c0001t0001g0147 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0287 a0001c0001t0003g0178 a0001c0007t0001g0054 a0001c0007t0001g0211 a0001c0007t0001g0217 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0346 a0002c0002t0002g0373 a0002c0002t0002g0375 a0002c0002t0002g0377 a0002c0002t0002g0379 a0002c0002t0002g0382 a0002c0002t0004g0011 a0002c0010t0002g0342 a0002c0010t0002g0362 a0002c0010t0002g0369 a0002c0010t0002g0370 a0002c0010t0002g0393 a0002c0013t0002g0343 a0002c0013t0002g0371 a0002c0013t0002g0372 a0003c0003t0002g0354 a0003c0012t0002g0351 a0003c0012t0002g0383 a0007c0015t0002g0021 a0012c0018t0001g0073	36	400	0.0900	-144	c.262 others(19): Show c.2627+1387_2627+1530del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50147197	ACTCTGTG others(137): Show ACTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGC TCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTC TGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01516.hp1 HG02015.hp2 others(18): Show HG00099.hp1 HG01516.hp1 HG02015.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG03239.hp2 HG03471.hp2 HG03834.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19012.hp1 NA19085.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0011	a0001c0001 a0001c0005 a0004c0008 others(3): Show a0001c0001 a0001c0005 a0004c0008 a0004c0014 a0005c0004 a0011c0017	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0004c0008t0001 a0004c0014t0001 a0005c0004t0001 a0011c0017t0001	a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0001g0139 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0001g0139 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0244 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0003g0192 a0001c0005t0001g0177 a0001c0005t0001g0198 a0001c0005t0001g0200 a0004c0008t0001g0104 a0004c0014t0001g0113 a0004c0014t0001g0207 a0005c0004t0001g0079 a0005c0004t0001g0114 a0005c0004t0001g0131 a0005c0004t0001g0132 a0011c0017t0001g0276	21	400	0.0525	-144	c.262 others(19): Show c.2627+1658_2627+1801del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496465	GGTGGTGG others(137): Show GGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGA TGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTG GTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03654.hp1 HG02129.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0148 a0001c0002t0001g0109 a0001c0001t0002g0148 a0001c0002t0001g0109	2	250	0.0080	-144	c.633 others(17): Show c.633-1759_633-1616del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496662	AGGTAGTG others(137): Show AGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGT GATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGCGGAGGT	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	250	0.0040	-144	c.633 others(17): Show c.633-1569_633-1426del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPS9_chr2_105033069_105104960	105054579	ACCCCTTT others(137): Show ACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01123.hp2 others(2): Show HG01081.hp2 HG01099.hp1 HG01123.hp2 HG02559.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0232 a0001c0001t0001g0287 a0001c0002t0002g0053 others(2): Show a0001c0001t0001g0232 a0001c0001t0001g0287 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0067	5	394	0.0127	-144	c.315 others(17): Show c.315+6071_315+6214del		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195779212	GTGGATGC others(137): Show GTGGATGCAGAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTGTCACCTGT GGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTGGCGTGACCGGTGG ATGCTGAGGAAGCATCGGTGACAGGAAGAGTGCTGGTGTCACCTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18906.hp2 NA18959.hp1 NA18906.hp2 NA18959.hp1	a0080 a0118 a0080 a0118	a0080c0170 a0118c0112 a0080c0170 a0118c0112	a0080c0170t0005 a0118c0112t0001 a0080c0170t0005 a0118c0112t0001	a0080c0170t0005g0240 a0118c0112t0001g0109 a0080c0170t0005g0240 a0118c0112t0001g0109	2	249	0.0080	-144	c.122 others(11): Show c.12224_12367del	p.Arg others(15): Show p.Arg4075_Ser4122del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12479/16756	12224/16239	4075/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779927	CACCTGTG others(137): Show CACCTGTGGAAGCTGAGGAAAGGCCGGTAACAGGAAGAGGGGTGGCGTGA CCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACC TGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03688.hp1 HG03688.hp1	a0081 a0081	a0081c0189 a0081c0189	a0081c0189t0011 a0081c0189t0011	a0081c0189t0011g0206 a0081c0189t0011g0206	1	249	0.0040	-144	c.115 others(11): Show c.11509_11652del	p.His others(15): Show p.His3837_Gly3884del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11764/16756	11509/16239	3837/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195780975	CGTGGCGT others(137): Show CGTGGCGTGACCGGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGG TGGCGTGACCGGTGGATGCTGAGGAAGCGCCGGTGACAGGAAGAGTGCTG GTGTCACCTGTGGATGCTGAGGAAGGGATGGTGACATGAAGAGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01975.hp1 HG02647.hp2 HG02717.hp1 others(1): Show HG01975.hp1 HG02647.hp2 HG02717.hp1 HG03098.hp2	a0066 a0068 a0069 others(1): Show a0066 a0068 a0069 a0071	a0066c0177 a0068c0171 a0069c0172 others(1): Show a0066c0177 a0068c0171 a0069c0172 a0071c0175	a0066c0177t0004 a0068c0171t0005 a0069c0172t0005 others(1): Show a0066c0177t0004 a0068c0171t0005 a0069c0172t0005 a0071c0175t0005	a0066c0177t0004g0226 a0068c0171t0005g0229 a0069c0172t0005g0230 others(1): Show a0066c0177t0004g0226 a0068c0171t0005g0229 a0069c0172t0005g0230 a0071c0175t0005g0227	4	249	0.0161	-144	c.104 others(11): Show c.10461_10604del	p.Pro others(15): Show p.Pro3488_Thr3535del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10716/16756	10461/16239	3487/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781031	GACCGGTG others(137): Show GACCGGTGGATGCTGAGGAAGCGCCGGTGACAGGAAGAGTGCTGGTGTCA CCTGTGGATGCTGAGGAAGGGATGGTGACATGAAGAGGGGTGGTGTGACC TGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp1	a0180 a0180	a0180c0033 a0180c0033	a0180c0033t0002 a0180c0033t0002	a0180c0033t0002g0195 a0180c0033t0002g0195	1	249	0.0040	-144	c.104 others(11): Show c.10405_10548del	p.Asp others(15): Show p.Asp3469_Gly3516del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10660/16756	10405/16239	3469/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781503	GGTGGCGT others(137): Show GGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGCACAGGGG TGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTG GCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG01891.hp2	a0061 a0061	a0061c0198 a0061c0198	a0061c0198t0008 a0061c0198t0008	a0061c0198t0008g0222 a0061c0198t0008g0222	1	249	0.0040	-144	c.993 others(10): Show c.9933_10076del	p.Pro others(15): Show p.Pro3312_Thr3359del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10188/16756	9933/16239	3311/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782503	TGAAGAGG others(137): Show TGAAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGG AAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAA GAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp2 HG04199.hp2 HG02895.hp2 HG04199.hp2	a0074 a0076 a0074 a0076	a0074c0167 a0076c0168 a0074c0167 a0076c0168	a0074c0167t0001 a0076c0168t0001 a0074c0167t0001 a0076c0168t0001	a0074c0167t0001g0067 a0076c0168t0001g0082 a0074c0167t0001g0067 a0076c0168t0001g0082	2	249	0.0080	-144	c.893 others(9): Show c.8933_9076del	p.Pro others(15): Show p.Pro2978_Leu3025del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9188/16756	8933/16239	2978/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782959	GACACTGA others(137): Show GACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGA CACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATG CTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp1 HG02040.hp2 HG02145.hp1 others(5): Show HG02015.hp1 HG02040.hp2 HG02145.hp1 HG03710.hp2 NA18979.hp2 NA18982.hp1 NA18998.hp1 NA19086.hp1	a0011 a0024 a0109 others(2): Show a0011 a0024 a0109 a0119 a0170	a0011c0008 a0011c0028 a0024c0012 others(3): Show a0011c0008 a0011c0028 a0024c0012 a0109c0043 a0119c0078 a0170c0110	a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 others(3): Show a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 a0109c0043t0002 a0119c0078t0001 a0170c0110t0001	a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 others(5): Show a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 a0024c0012t0001g0114 a0024c0012t0001g0156 a0109c0043t0002g0125 a0119c0078t0001g0099 a0170c0110t0001g0103	8	249	0.0321	-144	c.847 others(9): Show c.8477_8620del	p.Phe others(15): Show p.Phe2826_Val2873del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8732/16756	8477/16239	2826/5412			chr3	TogoVar

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