Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GALNT9_chr12_132191372_132334589	132234058	GAGAGGAG others(233): Show GAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp1 HG01981.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0133 a0001c0002t0001g0034 a0001c0001t0001g0133 a0001c0002t0001g0034	2	183	0.0109	-240	c.107 others(21): Show c.1077+13612_1077+13851del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234310	CGTGGAGT others(233): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	183	0.0055	-240	c.107 others(21): Show c.1077+13360_1077+13599del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234490	CAGAGGAG others(233): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0015 a0001c0041t0015	a0001c0041t0015g0178 a0001c0041t0015g0178	1	183	0.0055	-240	c.107 others(21): Show c.1077+13180_1077+13419del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234647	GTGGAGTC others(233): Show GTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0098 a0001c0006t0001g0098	1	183	0.0055	-240	c.107 others(21): Show c.1077+13023_1077+13262del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303849	ACACACCC others(233): Show ACACACCCTCGCCCAGACACACCCTCGCCTGGGCACAGCCTCACCGGGGC ACACCCTCACCCAGACACAGCCTCGCCCAGACACACCCTCGCCCGGGCAC ACCCTCACCTGGGCACAGCCTCACCGGGGCACACCCTCACCCAGACACAG CCTCACCTGGGCACACCCTCTCCGGGGCACACCCTCGCCCGGACACACCC TCACCCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	183	0.0055	-240	c.239 others(19): Show c.239-17659_239-17420del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303998	GCCTCACC others(233): Show GCCTCACCTGGGCACACCCTCTCCGGGGCACACCCTCGCCCGGACACACC CTCACCCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGGCACACCCT CACCCAGACACAGCCTCACCCGGGCACACCCTCTCCGGGGCACACCCTCG CCCGGACACGCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACC CAGACACGCCCTCACCTGGGCACATCCTCACCGGGGCACAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0057 a0001c0011t0001g0057	1	183	0.0055	-240	c.239 others(19): Show c.239-17808_239-17569del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GMDS_chr6_1618806_2250605	2201698	GCATCCGA others(233): Show GCATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGA GGTGAAGGATGAAGACAGAGCACCACATGGGCATCCGAGATGTAACCATC TAGGCAGTGAGGACAGCATGTTAGCAGAGAGGCGAAGGATGAAGAGAGAG CACCACATGGGCATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATG TTAGCAGGGAGGTGAAGGATGAAGAGAGAGCACCACATGGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	166	0.0060	-240	c.102 others(19): Show c.102+43383_102+43622del		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10						chr6	TogoVar
GNAL_chr18_11747085_11890685	11804146	AGTTTGGA others(233): Show AGTTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGG TTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTT TGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTG GATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGA TGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0095 a0001c0001t0025g0095	1	284	0.0035	-240	c.394 others(19): Show c.394-20439_394-20200del		GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
GOLGA3_chr12_132763914_132833869	132793002	AGACCGCA others(233): Show AGACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACG GGACCCGCACTCGGAGGGCTCCACACAGACCCACCCCACGGGACCCGCAC TCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCT CCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGAC CCACCGCACGGGACCCGCACTCGGAGGGCTCCACACTGACC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 NA18956.hp2 HG03491.hp2 HG03492.hp1 NA18956.hp2	a0004 a0007 a0004 a0007	a0004c0005 a0007c0016 a0004c0005 a0007c0016	a0004c0005t0005 a0007c0016t0020 a0004c0005t0005 a0007c0016t0020	a0004c0005t0005g0257 a0007c0016t0020g0253 a0007c0016t0020g0254 a0004c0005t0005g0257 a0007c0016t0020g0253 a0007c0016t0020g0254	3	308	0.0097	-240	c.247 others(19): Show c.2470-1949_2470-1710del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793003	GACCGCAC others(233): Show GACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGG GACCCGCACTCGGAGGGCTCCACACAGACCCACCCCACGGGACCCGCACT CGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTC CACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACC CACCGCACGGGACCCGCACTCGGAGGGCTCCACACTGACCC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0167 a0001c0003t0001g0167	1	308	0.0033	-240	c.247 others(19): Show c.2470-1950_2470-1711del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793238	TGACCCAC others(233): Show TGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAG GGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACAC AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA20805.hp2 HG02004.hp2 NA20805.hp2	a0004 a0013 a0004 a0013	a0004c0036 a0013c0035 a0004c0036 a0013c0035	a0004c0036t0008 a0013c0035t0035 a0004c0036t0008 a0013c0035t0035	a0004c0036t0008g0263 a0013c0035t0035g0262 a0004c0036t0008g0263 a0013c0035t0035g0262	2	308	0.0065	-240	c.247 others(19): Show c.2470-2185_2470-1946del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793487	GCACGGGA others(233): Show GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACA CAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACC GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00738.hp1 others(27): Show HG00280.hp1 HG00438.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01517.hp2 HG02129.hp2 HG02602.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp2 NA18906.hp1 NA18946.hp1 NA18989.hp1 NA18998.hp2 NA19004.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0025 a0002c0012 a0001c0001 a0001c0025 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0055 a0001c0001t0059 a0001c0025t0003 a0002c0012t0011	a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0007 others(27): Show a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0032g0107 a0001c0001t0033g0108 a0001c0001t0037g0113 a0001c0001t0055g0009 a0001c0001t0059g0120 a0001c0025t0003g0106 a0002c0012t0011g0125	30	308	0.0974	-240	c.246 others(19): Show c.2469+2125_2470-2195del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23						chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346518	CAAAGAGC others(233): Show CAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGG ACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGG ACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGG CTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGAC CTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	288	0.0035	-240	c.466 others(17): Show c.466-1799_466-1560del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GZMA_chr5_55097646_55115252	55105977	TAAAATAA others(233): Show TAAAATAAAATAAAATAAATAAAATAAAATAAAATAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAA ATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01256.hp1 HG01952.hp2 others(32): Show HG00621.hp1 HG01256.hp1 HG01952.hp2 HG02080.hp1 HG02109.hp1 HG02647.hp2 HG02809.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp2 HG03669.hp1 HG03704.hp2 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18949.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18977.hp2 NA18987.hp1 NA18995.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19067.hp2 NA19075.hp1 NA19082.hp2 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0040 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0002t0001g0003 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0002g0003	35	390	0.0897	-240	c.215 others(15): Show c.215+378_215+617del		GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
HELZ2_chr20_63553086_63579239	63559436	AGGAGTCA others(233): Show AGGAGTCAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAG GGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTG GGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCA GGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGT GGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC	A A	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0006 a0006	a0006c0050 a0006c0050	a0006c0050t0004 a0006c0050t0004	a0006c0050t0004g0120 a0006c0050t0004g0120	1	390	0.0026	-240	c.782 others(16): Show c.7825+252_7826-67del		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HRC_chr19_49146198_49160396	49157035	CCCTCTCT others(233): Show CCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCGTCT CTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGG GTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCTCTCCGTGGGTCTCTG TCCCCTCTCCCTGGGTCTCTGTCCCCCCCTCCCTGGGTCTCTGTCCCCCC CTCTCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0005 a0007c0006t0001g0005	1	406	0.0025	-240	c.-20 others(11): Show c.-2038_-1799del		HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding					1640		chr19	TogoVar
IBA57_chr1_228160804_228187257	228174272	GCTGTGGG others(233): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02155.hp2 HG02970.hp1 others(5): Show HG01993.hp2 HG02155.hp2 HG02970.hp1 HG03471.hp1 NA18747.hp1 NA18960.hp2 NA18968.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0025 a0002c0002t0001 a0002c0002t0003 a0002c0002t0094	a0001c0001t0025g0231 a0002c0002t0001g0032 a0002c0002t0001g0096 others(4): Show a0001c0001t0025g0231 a0002c0002t0001g0032 a0002c0002t0001g0096 a0002c0002t0001g0129 a0002c0002t0001g0155 a0002c0002t0003g0032 a0002c0002t0094g0175	8	416	0.0192	-240	c.342 others(15): Show c.342-416_342-177del		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP5A_chr10_132532787_132788480	132758139	GATGTTGT others(233): Show GATGTTGTGGGTCCCTGGCTGACCCCACACCCATAGCCCGGCACCATGGC GTGGGTCCCCGGCCGACCCCACAGGCCAGTGCGATGTCGTGGGTCCCTGG CTGACCCCACAGCCCGGCACCATGGCGTGGGTCCCCGGCCGACCCCACAG GCCAGTGCGATGTTGTGGGTCCCTGGCTGACCCCACACCCATAGCCCGGC ACCATGGCGTGGGTCCCCGGCCGACCCCACAGGCCAGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01255.hp2 others(24): Show HG01071.hp1 HG01167.hp2 HG01255.hp2 HG01515.hp2 HG01952.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG04184.hp2 NA18945.hp2 NA18952.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18990.hp1 NA19010.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0001c0011t0001 a0002c0002t0004	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(24): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0017g0182 a0001c0003t0001g0145 a0001c0003t0004g0199 a0001c0003t0004g0202 a0001c0011t0001g0172 a0002c0002t0004g0203	27	204	0.1324	-240	c.904 others(17): Show c.904-7605_904-7366del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737747	AATATTCT others(233): Show AATATTCTATATTATATTCTATATAATATTCTATATTATATTCTATATAA TATTCTATATTATATTCTATATAATATTCTATATTATATTCTATATATTA TATATTATATTCTATATATTATATATTATATTCTATATATTATATATTAT ATTCTATATATTATATATTATATTCTATATATTATATATTATATTCTATA TATTATATATTATATTCTATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0328 a0012c0025t0001g0328	1	380	0.0026	-240	c.195 others(17): Show c.1958-868_1958-629del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
KAZN_chr1_14593685_15123043	15007436	TTTGGCAC others(233): Show TTTGGCACACTGCACTAGGCTGGGAGGTGTGGAGGGTGTGATTTGAGCCC AGGGCTCTCTCAGGCCTCTCTGTTTCCCAGGCTGGCCACATCTGGACCCA GGGAGCAGGAGGAGGTCCCAGGTGGGAGGCTCGGGCCGAGCTCTGGTGGG ACGCAAGGTGGGCTTGGCCAGCCGACCCGTTGGGTAGTGGGAGCCCTCCC CTTCCTTCCCTTCCTGGTTTCTGCTCTGCCGGGCAGGTAGC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	146	0.0069	-240	c.419 others(19): Show c.419-27311_419-27072del		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNG2_chr18_79792938_79905100	79808131	GAGCTGCC others(233): Show GAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCC TCGCCCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02896.hp1 others(3): Show HG02055.hp1 HG02257.hp1 HG02896.hp1 HG02976.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0219 a0001c0001t0001g0220	6	312	0.0192	-240	c.-11 others(21): Show c.-115+10167_-115+10406del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808327	GCTGACCA others(233): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG02965.hp2 HG02630.hp1 HG02886.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0218 a0001c0005t0001g0217 a0001c0005t0001g0231 a0001c0001t0001g0218 a0001c0005t0001g0217 a0001c0005t0001g0231	3	312	0.0096	-240	c.-11 others(21): Show c.-115+10357_-115+10596del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808431	GAGCTGCC others(233): Show GAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18941.hp1 HG06807.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0176 a0001c0001t0001g0017 a0001c0001t0001g0176	2	312	0.0064	-240	c.-11 others(21): Show c.-115+10489_-115+10728del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809105	TCGCTGAC others(233): Show TCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGC TCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0289 a0002c0002t0002g0289	1	312	0.0032	-240	c.-11 others(21): Show c.-115+11093_-115+11332del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KLK4_chr19_50901351_50916395	50913742	GTCTCTGT others(233): Show GTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTT CTCTGTGTCTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGT CTCCGCACCTGTGTCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCC ATCTCTGTCTCTGTCTCTCTGTCTGTGGCTTCGCACCTGTCTCTGTCCAT CTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCTCTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02622.hp2 others(2): Show HG01884.hp1 HG02572.hp2 HG02622.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0126 a0001c0001t0003g0032 a0001c0001t0003g0048 others(2): Show a0001c0001t0002g0126 a0001c0001t0003g0032 a0001c0001t0003g0048 a0001c0001t0005g0013 a0001c0001t0005g0151	5	414	0.0121	-240	c.-26 others(11): Show c.-2655_-2416del		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding					2348		chr19	TogoVar
LAMP1_chr13_113292239_113328672	113314030	TAGAGGGA others(233): Show TAGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTCCTG GAGGGAACCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTCCCGGA GGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTACTAGAGG GAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTCCTGGAGGGA ACCAGTGCGGAGATGTCGGTGTGCCTGGGGCGTGGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0334 a0003c0003t0002g0334	1	354	0.0028	-240	c.562 others(17): Show c.562+3164_562+3403del		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8						chr13	TogoVar
LHPP_chr10_124456823_124619141	124506697	GCGGGTAG others(233): Show GCGGGTAGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGG GGGGTAGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGG GGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAGGG GGTAGGGAGGATTTCAGGTGGAGAGGTAGACAGGATTTCAGGTTGGGGGG TAGGGAGGATTTCAGGTTGGGGGGTAGACAGGATTTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01258.hp1 HG01515.hp2 others(7): Show HG00280.hp2 HG01258.hp1 HG01515.hp2 HG03669.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18980.hp1 NA19012.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0095 a0001c0001t0001g0126 others(7): Show a0001c0001t0001g0065 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0157 a0001c0001t0001g0172 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0120 a0002c0002t0001g0151 a0002c0002t0001g0251	10	260	0.0385	-240	c.624 others(17): Show c.624+8570_624+8809del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LIAT1_chr17_405325_419666	413464	CGACCCCG others(233): Show CGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCGACGCCCTCAAGG GCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCGAG GCCCTCAAGGGCATCCACCCCGACCCCGAGGCTCTCAAGGGCTTCCACCC CGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCTGAGGCCCTCAAGG GTTTCCACACTGACCCCGAGGCCCTCAAGGGTTTCCACATT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp1 HG02683.hp2 HG03491.hp2 others(3): Show HG01081.hp1 HG02683.hp2 HG03491.hp2 HG03492.hp1 NA18906.hp2 NA20805.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0002 a0009c0010t0001 a0009c0010t0002	a0009c0010t0001g0008 a0009c0010t0002g0008 a0009c0010t0001g0008 a0009c0010t0002g0008	6	434	0.0138	-240	c.658 others(7): Show c.658_897del	p.Asp others(13): Show p.Asp220_Pro299del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	676/1841	658/1272	220/423		INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75546554	CCCAGCAG others(233): Show CCCAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTC CAGCAGACAGGCGGAGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCA GCAGACAGGCGGAGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGC AGACAGACGGAGGGCAGGTCCAGCAGACAGGCGGAGGGCAGGTCCAGCAG ACAGGCGGAGGGCAGGTCCAGCAGACAGACGGAGGGCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02809.hp2 HG02602.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0003 a0001c0001t0002 a0002c0004t0003	a0001c0001t0002g0315 a0002c0004t0003g0351 a0001c0001t0002g0315 a0002c0004t0003g0351	2	382	0.0052	-240	c.75+ others(15): Show c.75+3131_75+3370del		LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
LMBRD1_chr6_69669010_69802010	69749843	TATATACA others(233): Show TATATACATACTCATATATACATATATAAGTATATATACACATATACATA CTCATATATACATATATAAGTATATATACACATATACATACTCATATATA CATATATAAGTATATATACACATATACATACTCATATATACATATATAAG TATATATACACATATACATACTCATATATACATATATAAGTATATATACA CATATACATACTCATATATACATATATAAGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00741.hp2 others(32): Show HG00609.hp1 HG00673.hp1 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0019 a0001c0003t0004 a0001c0001t0004 a0001c0001t0019 a0001c0003t0004	a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 others(28): Show a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0019g0052 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062	35	348	0.1006	-240	c.406 others(15): Show c.406-675_406-436del		LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	4/15						chr6	TogoVar
MELTF_chr3_196996740_197034817	197032793	GTTACACT others(233): Show GTTACACTCTTGCTGACTGGTTGGGACATGAGCACCTGCAGTAGTGTGAT GTCAGAGGATGTTACACTCTTGCTGATGGGTTGGGTGTGAGCACCTGAAG TAGTGTGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGGGGTGTGA GCACCTGCAGTAGTGTGATGTCAGAGGATGTTACCTCTCTTGCTGACTGG TTGGGGTGTGAGCACCTGCAGTCGTGTGATGTCAGAAGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00741.hp2 others(7): Show HG00280.hp2 HG00733.hp1 HG00741.hp2 HG01243.hp2 HG01952.hp2 HG02004.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0047 a0001c0001t0001g0265 a0001c0001t0001g0289 others(7): Show a0001c0001t0001g0047 a0001c0001t0001g0265 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0002g0002 a0001c0001t0002g0250 a0001c0001t0032g0176 a0001c0002t0004g0051 a0001c0002t0009g0143	10	420	0.0238	-240	c.-33 others(11): Show c.-3331_-3092del		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					2977		chr3	TogoVar
MLPH_chr2_237482251_237560322	237543685	CGACAGTG others(233): Show CGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTG GGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGT GGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02258.hp2 HG02717.hp1 others(2): Show HG01981.hp1 HG02258.hp2 HG02717.hp1 HG02818.hp2 HG03486.hp2	a0001 a0009 a0012 a0001 a0009 a0012	a0001c0001 a0009c0029 a0012c0013 a0001c0001 a0009c0029 a0012c0013	a0001c0001t0002 a0009c0029t0001 a0012c0013t0002 a0001c0001t0002 a0009c0029t0001 a0012c0013t0002	a0001c0001t0002g0037 a0001c0001t0002g0094 a0001c0001t0002g0171 others(2): Show a0001c0001t0002g0037 a0001c0001t0002g0094 a0001c0001t0002g0171 a0009c0029t0001g0124 a0012c0013t0002g0123	5	286	0.0175	-240	c.153 others(19): Show c.1539+1187_1539+1426del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MOV10L1_chr22_50085006_50166687	50147175	GGCAGGCC others(233): Show GGCAGGCCGCTCTCTCAGAGGCACTCTGTGCAGAAGCAGGGAGGGTGCTG CAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCA GGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGG CCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCC GCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 HG01515.hp2 others(26): Show HG00741.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG02004.hp1 HG02486.hp1 HG02735.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03516.hp2 HG03710.hp1 NA18522.hp1 NA18939.hp2 NA18953.hp2 NA18990.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19062.hp1 NA19063.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0012 a0008c0024	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0003c0003t0002 a0003c0012t0002 a0008c0024t0002	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0049 others(25): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0001g0234 a0001c0001t0001g0256 a0001c0001t0003g0179 a0001c0001t0003g0194 a0001c0001t0003g0195 a0002c0002t0002g0030 a0003c0003t0002g0331 a0003c0003t0002g0357 a0003c0003t0002g0358 a0003c0003t0002g0366 a0003c0003t0002g0367 a0003c0003t0002g0368 a0003c0003t0002g0387 a0003c0012t0002g0324 a0008c0024t0002g0006	29	400	0.0725	-240	c.262 others(19): Show c.2627+1387_2627+1626del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50147197	ACTCTGTG others(233): Show ACTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGC TCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTC TGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTG TGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTG CAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01168.hp1 others(61): Show HG00438.hp1 HG00597.hp1 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02683.hp1 HG02698.hp2 HG02886.hp2 HG03041.hp1 HG03453.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19090.hp1 NA20129.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0005 a0001c0011 others(4): Show a0001c0001 a0001c0005 a0001c0011 a0001c0037 a0004c0008 a0005c0004 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0011t0001 a0001c0037t0001 a0004c0008t0001 a0005c0004t0001 a0006c0006t0001	a0001c0001t0001g0140 a0001c0001t0001g0193 a0001c0001t0001g0236 others(61): Show a0001c0001t0001g0140 a0001c0001t0001g0193 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0005t0001g0166 a0001c0005t0001g0169 a0001c0005t0001g0170 a0001c0005t0001g0188 a0001c0005t0001g0203 a0001c0005t0001g0204 a0001c0005t0001g0205 a0001c0005t0001g0309 a0001c0005t0001g0310 a0001c0005t0001g0311 a0001c0011t0001g0041 a0001c0011t0001g0044 a0001c0011t0001g0045 a0001c0011t0001g0046 a0001c0011t0001g0047 a0001c0011t0001g0048 a0001c0037t0001g0251 a0004c0008t0001g0078 a0005c0004t0001g0086 a0005c0004t0001g0106 a0006c0006t0001g0039 a0006c0006t0001g0235 a0006c0006t0001g0241 a0006c0006t0001g0246 a0006c0006t0001g0260 a0006c0006t0001g0262 a0006c0006t0001g0263 a0006c0006t0001g0265 a0006c0006t0001g0275 a0006c0006t0001g0288 a0006c0006t0001g0294 a0006c0006t0001g0297 a0006c0006t0001g0315	64	400	0.1600	-240	c.262 others(19): Show c.2627+1562_2627+1801del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195777599	CCCATACC others(233): Show CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA CCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG02976.hp1 others(2): Show HG01884.hp1 HG01975.hp1 HG02976.hp1 HG03579.hp1 NA18906.hp2	a0066 a0070 a0073 others(2): Show a0066 a0070 a0073 a0080 a0104	a0066c0177 a0070c0174 a0073c0176 others(2): Show a0066c0177 a0070c0174 a0073c0176 a0080c0170 a0104c0030	a0066c0177t0004 a0070c0174t0002 a0073c0176t0005 others(2): Show a0066c0177t0004 a0070c0174t0002 a0073c0176t0005 a0080c0170t0005 a0104c0030t0005	a0066c0177t0004g0226 a0070c0174t0002g0211 a0073c0176t0005g0228 others(2): Show a0066c0177t0004g0226 a0070c0174t0002g0211 a0073c0176t0005g0228 a0080c0170t0005g0240 a0104c0030t0005g0232	5	249	0.0201	-240	c.129 others(19): Show c.12943+464_12943+703del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195779116	GAGGATGC others(233): Show GAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGGCGTGGTGTCACCTGT GGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGG ATGCAGAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGAT ACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTGGCGTGACCGGTGGATGC TGAGGAAGCATCGGTGACAGGAAGAGTGCTGGTGTCACCTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG02040.hp1 HG03130.hp1 HG00738.hp2 HG02040.hp1 HG03130.hp1	a0101 a0127 a0179 a0101 a0127 a0179	a0101c0123 a0127c0127 a0179c0032 a0101c0123 a0127c0127 a0179c0032	a0101c0123t0001 a0127c0127t0001 a0179c0032t0002 a0101c0123t0001 a0127c0127t0001 a0179c0032t0002	a0101c0123t0001g0183 a0127c0127t0001g0158 a0179c0032t0002g0193 a0101c0123t0001g0183 a0127c0127t0001g0158 a0179c0032t0002g0193	3	249	0.0121	-240	c.122 others(11): Show c.12224_12463del	p.Arg others(21): Show p.Arg4075_Ser4155delinsThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12575/16756	12224/16239	4075/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779204	CCTGACCT others(233): Show CCTGACCTGTGGATGCAGAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTG TCACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTGGCGTG ACCGGTGGATGCTGAGGAAGCATCGGTGACAGGAAGAGTGCTGGTGTCAC CTCTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT GTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp2 HG00280.hp2	a0178 a0178	a0178c0034 a0178c0034	a0178c0034t0002 a0178c0034t0002	a0178c0034t0002g0194 a0178c0034t0002g0194	1	249	0.0040	-240	c.121 others(11): Show c.12136_12375del	p.Thr others(15): Show p.Thr4046_Gln4125del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12487/16756	12136/16239	4046/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779708	TGTCGGTG others(233): Show TGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTG CTGGTGACAGGAAGAGGGGTGGCATGTCCTGTGGATGCCGAGGAAACGTC GGTGACAGGAAGACGGGTGGTGTCATCTGTGGAAGCTGAGGAAGTGTCGG TGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAGTGTCGGTG ACAGGAAGAGGGGTGGTGTCACCTGTGGAAGCTGAGGAAAG	T T	conservative_inframe_deletion conservative_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	-240	c.116 others(11): Show c.11632_11871del	p.Leu others(15): Show p.Leu3878_Asp3957del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11983/16756	11632/16239	3878/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779776	GTGGCATG others(233): Show GTGGCATGTCCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGT GGTGTCATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGG CGTGACGTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTG TCACCTGTGGAAGCTGAGGAAAGGCCGGTAACAGGAAGAGGGGTGGCGTG ACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp2 HG02895.hp2	a0074 a0074	a0074c0167 a0074c0167	a0074c0167t0001 a0074c0167t0001	a0074c0167t0001g0067 a0074c0167t0001g0067	1	249	0.0040	-240	c.115 others(11): Show c.11564_11803del	p.Met others(15): Show p.Met3855_Ala3934del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11915/16756	11564/16239	3855/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782831	CGGTGACA others(233): Show CGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGAGAGGAAGAGGGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGT GACAGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGA CAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02647.hp2 HG03098.hp2 HG02647.hp2 HG03098.hp2	a0069 a0071 a0069 a0071	a0069c0172 a0071c0175 a0069c0172 a0071c0175	a0069c0172t0005 a0071c0175t0005 a0069c0172t0005 a0071c0175t0005	a0069c0172t0005g0230 a0071c0175t0005g0227 a0069c0172t0005g0230 a0071c0175t0005g0227	2	249	0.0080	-240	c.850 others(9): Show c.8509_8748del	p.Ile others(15): Show p.Ile2837_Thr2916del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8860/16756	8509/16239	2837/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782948	CATGACCT others(233): Show CATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCG TGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTG ACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGAC CTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCT GTGGACACTGACGAAGCGTCGGTGACAGGAAGAGGGGTGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(3): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01515.hp2	a0026 a0175 a0179 others(2): Show a0026 a0175 a0179 a0180 a0181	a0026c0009 a0175c0031 a0179c0032 others(2): Show a0026c0009 a0175c0031 a0179c0032 a0180c0033 a0181c0036	a0026c0009t0002 a0175c0031t0001 a0179c0032t0002 others(2): Show a0026c0009t0002 a0175c0031t0001 a0179c0032t0002 a0180c0033t0002 a0181c0036t0002	a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 others(3): Show a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 a0179c0032t0002g0193 a0180c0033t0002g0195 a0181c0036t0002g0191	6	249	0.0241	-240	c.839 others(9): Show c.8392_8631del	p.Thr others(15): Show p.Thr2798_His2877del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8743/16756	8392/16239	2798/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783503	CGGTGACA others(233): Show CGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTA GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGT GACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCGTCGGTGA CAAGAAGAGGAGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACA GGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03209.hp1 HG03209.hp1	a0034 a0034	a0034c0152 a0034c0152	a0034c0152t0014 a0034c0152t0014	a0034c0152t0014g0185 a0034c0152t0014g0185	1	249	0.0040	-240	c.783 others(9): Show c.7837_8076del	p.Ser others(15): Show p.Ser2613_Thr2692del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8188/16756	7837/16239	2613/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783940	ACATGAAG others(233): Show ACATGAAGAGAGGTGGCGTGACGTGTGGATAATGAGGAAGCATTGGTGAC AGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGACAG GTAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGA AGACGGGTGGTGTCACCTGTGGATACTGACGAAGCGTCGGTGACAAGAAG AGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00280.hp2	a0178 a0178	a0178c0034 a0178c0034	a0178c0034t0002 a0178c0034t0002	a0178c0034t0002g0194 a0178c0034t0002g0194	1	249	0.0040	-240	c.740 others(9): Show c.7400_7639del	p.Gly others(15): Show p.Gly2467_His2546del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7751/16756	7400/16239	2467/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785554	ACTGAGGA others(233): Show ACTGAGGAAGTGTCGGTGACCGGAAGAGGGGTGGCATGACCTGTGGACAC TGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGACACTG AGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAG GAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGA AGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02293.hp1 HG02293.hp1	a0032 a0032	a0032c0134 a0032c0134	a0032c0134t0002 a0032c0134t0002	a0032c0134t0002g0020 a0032c0134t0002g0020	1	249	0.0040	-240	c.578 others(9): Show c.5786_6025del	p.Ala others(15): Show p.Ala1929_Ser2008del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6137/16756	5786/16239	1929/5412			chr3	TogoVar
NACAD_chr7_45075437_45093969	45083467	GCGTGGCT others(233): Show GCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGATCTGTGTCTTGT AGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTC TTCAGCCTGCTGGGACACAGGCGTGGCTGCAGCCACAGGCTTTGGGGCTG ACGAGAGATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCC TGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00544.hp1 HG00544.hp1	a0043 a0043	a0043c0073 a0043c0073	a0043c0073t0001 a0043c0073t0001	a0043c0073t0001g0070 a0043c0073t0001g0070	1	410	0.0024	-240	c.247 others(9): Show c.2473_2712del	p.Ile others(13): Show p.Ile825_Thr904del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2787/4836	2473/4689	825/1562			chr7	TogoVar
NACAD_chr7_45075437_45093969	45084098	CGAGAGAT others(233): Show CGAGAGATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCT GGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCA GCCACAGGCTTTGGGGCTGACGAGAGTTCTGTGTCTTGTAGGGGCAGAGG CGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCT GGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp1 HG02559.hp2 HG02622.hp2 others(5): Show HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02922.hp1 HG03041.hp2 NA19240.hp1 NA20129.hp1	a0010 a0017 a0010 a0017	a0010c0011 a0017c0021 a0010c0011 a0017c0021	a0010c0011t0001 a0017c0021t0001 a0010c0011t0001 a0017c0021t0001	a0010c0011t0001g0010 a0017c0021t0001g0022 a0010c0011t0001g0010 a0017c0021t0001g0022	8	410	0.0195	-240	c.184 others(9): Show c.1842_2081del	p.Ser others(13): Show p.Ser615_Ser694del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2156/4836	1842/4689	614/1562			chr7	TogoVar
NOD2_chr16_50688606_50738075	50693036	CGTGTGTG others(233): Show CGTGTGTGTGTGTGTATGTGAGTGTTGGGAAGCAAGGTATGTGTGTTGGG GGAAGCGAGGGCTGTGTGTGTATTGGGAAGCATGTTTGTGTGTGGGGGGA AGCGAGGGCTGTGTGTGTGTATTGGGAAACATGTTTGCGTGTGGGGGGGA AGCAGGGCGTGTGTGTGTGTTGCGAAGCGGTGTGTGTGTGGTGTGTGTGT GTGCGCGTGTGTGCTGGGAAGCGGTGTGTGTGGTGTGTGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 NA20300.hp2 HG02895.hp2 NA20300.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0110 a0004c0007t0002g0111 a0004c0007t0002g0110 a0004c0007t0002g0111	2	312	0.0064	-240	c.-63 others(9): Show c.-634_-395del		NOD2	ENSG00000167207.15	transcript	ENST00000647318.2	protein_coding					569		chr16	TogoVar
NXN_chr17_794310_984776	894110	TCCCTGGA others(233): Show TCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAG CATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAG CCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAAC GCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAG CATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01358.hp1 others(29): Show HG00735.hp2 HG01167.hp1 HG01358.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18964.hp1 NA19043.hp2 NA19066.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0011 a0002c0005 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0002t0004 a0001c0002t0032 a0001c0003t0001 a0001c0004t0007 a0001c0010t0006 a0001c0011t0004 a0002c0005t0004 a0003c0012t0001	a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0076 others(29): Show a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0002g0053 a0001c0001t0002g0093 a0001c0001t0002g0112 a0001c0001t0002g0178 a0001c0001t0003g0027 a0001c0001t0003g0044 a0001c0001t0003g0157 a0001c0001t0003g0181 a0001c0001t0003g0227 a0001c0001t0004g0041 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0074 a0001c0001t0006g0156 a0001c0001t0007g0040 a0001c0001t0017g0002 a0001c0002t0004g0228 a0001c0002t0032g0242 a0001c0003t0001g0042 a0001c0003t0001g0223 a0001c0004t0007g0233 a0001c0010t0006g0159 a0001c0011t0004g0234 a0002c0005t0004g0197 a0003c0012t0001g0236	32	242	0.1322	-240	c.361 others(19): Show c.361-68272_361-68033del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PCBP3_chr21_45638725_45947450	45918591	GGGGAAGA others(233): Show GGGGAAGAAGTTACCCTCAGATAAACCGTCGGTGTAATTCCAGTGCTGGG GGAAGAAGTTACCCTCAGATAAACCGTCGGTGTAATTCCAGTGCTGGGGG AAGAAGTTACTCTCAGATAAACCGTCGGTGTAATTCCAGTGCTGGAGGAA GAAGTTACTCTCAGATAAACGGTCGGTGTAATTCCAGTGCTGGGGGAAGA AGTTACCCTCAGATAAACCATTGGTGTAATTCCAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0224 a0001c0001t0019g0224	1	292	0.0034	-240	c.717 others(16): Show c.717+989_717+1228del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE6B_chr4_620573_675782	668692	GCTATGCC others(233): Show GCTATGCCATGCTATTCCCCTACCCCATGCTATTCCTGCTATGCCATGCT ATTCCCCTACCCCATGCTATTCCCCTACCCCATGCTGCTCCCACTACCCC ACGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCT ACCCCATGCTATTCCCGCTATGCCATGCTATTCCCGCTACCCCATGCTAT TCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	308	0.0033	-240	c.250 others(17): Show c.2503+690_2503+929del		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr4	TogoVar

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