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
EXOC3L4_chr14_103089725_103115559	103109327	CCTCCCTC others(281): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCT GTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02818.hp2 others(6): Show HG01884.hp1 HG02258.hp1 HG02818.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 NA18967.hp1 NA18995.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0042	a0001c0005 a0002c0007 a0003c0001 others(3): Show a0001c0005 a0002c0007 a0003c0001 a0004c0002 a0006c0009 a0042c0068	a0001c0005t0001 a0002c0007t0001 a0003c0001t0001 others(4): Show a0001c0005t0001 a0002c0007t0001 a0003c0001t0001 a0003c0001t0003 a0004c0002t0003 a0006c0009t0001 a0042c0068t0001	a0001c0005t0001g0005 a0002c0007t0001g0005 a0003c0001t0001g0142 others(5): Show a0001c0005t0001g0005 a0002c0007t0001g0005 a0003c0001t0001g0142 a0003c0001t0001g0147 a0003c0001t0003g0176 a0004c0002t0003g0036 a0006c0009t0001g0156 a0042c0068t0001g0128	9	404	0.0223	-288	c.197 others(17): Show c.1977-702_1977-415del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109363	CCTCCCTC others(281): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19009.hp2 NA19068.hp1 HG03834.hp2 NA19009.hp2 NA19068.hp1	a0004 a0010 a0004 a0010	a0004c0002 a0010c0017 a0010c0063 a0004c0002 a0010c0017 a0010c0063	a0004c0002t0001 a0010c0017t0001 a0010c0063t0001 a0004c0002t0001 a0010c0017t0001 a0010c0063t0001	a0004c0002t0001g0087 a0010c0017t0001g0021 a0010c0063t0001g0021 a0004c0002t0001g0087 a0010c0017t0001g0021 a0010c0063t0001g0021	3	404	0.0074	-288	c.197 others(17): Show c.1977-666_1977-379del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1319470	CGGTGGCG others(281): Show CGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0000 a0003c0002t0004g0000	1	406	0.0025	-288	c.55 others(11): Show c.5555_*5842del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4713		chr6	TogoVar
GALNS_chr16_88808734_88861947	88831205	CGAGGAGA others(281): Show CGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTG AGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGG GTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGA GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGG	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18966.hp2 NA18970.hp2 others(1): Show NA18950.hp1 NA18966.hp2 NA18970.hp2 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0005 a0001c0001t0001 a0002c0010t0005	a0001c0001t0001g0202 a0001c0001t0001g0226 a0001c0001t0001g0298 others(1): Show a0001c0001t0001g0202 a0001c0001t0001g0226 a0001c0001t0001g0298 a0002c0010t0005g0385	4	404	0.0099	-288	c.100 others(17): Show c.1002+505_1002+792del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNT9_chr12_132191372_132334589	132231787	TACACACT others(281): Show TACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	183	0.0055	-288	c.107 others(21): Show c.1077+15835_1077+16122del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232500	GTGCCACA others(281): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02027.hp2 HG00733.hp2 HG02027.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0032 a0001c0004 a0002c0032	a0001c0004t0001 a0002c0032t0002 a0001c0004t0001 a0002c0032t0002	a0001c0004t0001g0020 a0002c0032t0002g0167 a0001c0004t0001g0020 a0002c0032t0002g0167	2	183	0.0109	-288	c.107 others(21): Show c.1077+15122_1077+15409del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233386	CAGAGGAG others(281): Show CAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGG AGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp2 HG01981.hp1 HG00140.hp1 HG01978.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0096 a0001c0001t0001g0133 a0001c0007t0001g0104 a0001c0001t0001g0096 a0001c0001t0001g0133 a0001c0007t0001g0104	3	183	0.0164	-288	c.107 others(21): Show c.1077+14236_1077+14523del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234442	CAGAGGAG others(281): Show CAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	183	0.0055	-288	c.107 others(21): Show c.1077+13180_1077+13467del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303734	CAGACACA others(281): Show CAGACACACCCTCACCCGGGCACACCCTCACCGGGGCACACCCTCACCCG GGCACACCCTCACCCAGACACACCCTCACCCGGGCACACCCTCACCGGGG CACACCCTCACCCGGACACACCCTCGCCCAGACACACCCTCGCCTGGGCA CAGCCTCACCGGGGCACACCCTCACCCAGACACAGCCTCGCCCAGACACA CCCTCGCCCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGGCACACC CTCACCCAGACACAGCCTCACCTGGGCACACCCTCTCCG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp1 HG02717.hp2 others(8): Show HG01106.hp1 HG01167.hp1 HG02717.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0036	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0007t0001 a0001c0014t0003 a0001c0036t0003	a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0002t0001g0053 a0001c0002t0001g0081 a0001c0002t0005g0066 a0001c0007t0001g0061 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0036t0003g0055	11	183	0.0601	-288	c.239 others(19): Show c.239-17592_239-17305del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303966	GCCTCACC others(281): Show GCCTCACCGGGGCACACCCTCACCCAGACACAGCCTCACCTGGGCACACC CTCTCCGGGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACACCCT CACCTGGGCACAGCCTCACCGGGGCACACCCTCACCCAGACACAGCCTCA CCCGGGCACACCCTCTCCGGGGCACACCCTCGCCCGGACACGCCCTCACC GGGGCACACCCTCACCCAGACACGCCCTCACCCAGACACGCCCTCACCTG GGCACATCCTCACCGGGGCACACCCTCACCCAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp1 HG02809.hp2 HG01109.hp1 HG02723.hp1 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0025 a0001c0006 a0001c0025	a0001c0006t0001 a0001c0025t0012 a0001c0006t0001 a0001c0025t0012	a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0025t0012g0048 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0025t0012g0048	3	183	0.0164	-288	c.239 others(19): Show c.239-17824_239-17537del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304422	CGGGCACA others(281): Show CGGGCACAGCCTCGCCCGGGCACACCCTCGCCCGGGCACAGCCTCGCCCG GGCACACGCTCACCCAGACACACCCTTGCCCGGGCACACCCTCGCCCGGA CACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCA CACCCTCGCCCGGACACGCCCTCACCCGGGCACAGCCTCACCCGGGCACA GCCTCACCGGGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGC CTCGCCCGGGCACACCCTCGCCCAGACACACCCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp1 HG01167.hp2 others(29): Show HG00423.hp2 HG01070.hp1 HG01167.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19067.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0027 a0001c0034 a0001c0041 a0004c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0021t0004 a0001c0027t0001 a0001c0034t0004 a0001c0041t0015 a0004c0024t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0002t0001g0022 a0001c0002t0001g0070 a0001c0002t0001g0105 a0001c0002t0001g0135 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0139 a0001c0003t0001g0162 a0001c0004t0001g0020 a0001c0004t0001g0060 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0021t0004g0155 a0001c0027t0001g0082 a0001c0034t0004g0158 a0001c0041t0015g0178 a0004c0024t0001g0160	32	183	0.1749	-288	c.239 others(19): Show c.239-18280_239-17993del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304903	GGACACGC others(281): Show GGACACGCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCAG ACACGCCCTCACCCGGGCACACCCTCACCCGGGCACACCCTCACCCGGGC ACATCCTCACCGGGGCACACCCTCACCCAGACACACCCTCACCCGGGCAC AGAATCGCCCAGACACACCCTCACCTGGGCACACCCTCACCCGGGCACAG CCTCACCCAGACACGCCCTCACCCGGGCACAGCCTCGCCCGGGCACACCC TCGCCTGGGCACAGCCTCGCCCGGGCACACGCTCACCCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp1 HG01167.hp2 others(29): Show HG00423.hp2 HG01070.hp1 HG01167.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19067.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0027 a0001c0034 a0001c0041 a0004c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0021t0004 a0001c0027t0001 a0001c0034t0004 a0001c0041t0015 a0004c0024t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0002t0001g0022 a0001c0002t0001g0070 a0001c0002t0001g0105 a0001c0002t0001g0135 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0139 a0001c0003t0001g0162 a0001c0004t0001g0020 a0001c0004t0001g0060 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0021t0004g0155 a0001c0027t0001g0082 a0001c0034t0004g0158 a0001c0041t0015g0178 a0004c0024t0001g0160	32	183	0.1749	-288	c.239 others(19): Show c.239-18761_239-18474del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GAMT_chr19_1392026_1406542	1405031	CGCCATGT others(281): Show CGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCGCC CACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCT GGCCTGTATTTTAAAAAATATATTATTTGTAATCAGCTTGTGCCCGACTT CCTTCTTTGGGCCACATTCTGTGCATTTCATCCACCCACTGCTTCATTGT TCATTTATCCAGTCACCAATAGATGGATGTGTGGTTATTTCAAATGTTCC AGTCTTGTTTTGTTTTGTTTTTGATAGAAACAGGGTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	402	0.0025	-288	c.-38 others(11): Show c.-3843_-3556del		GAMT	ENSG00000130005.13	transcript	ENST00000252288.8	protein_coding					3490		chr19	TogoVar
GRIN1_chr9_137134154_137173756	137144727	GGGGTGTG others(281): Show GGGGTGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGT GTCCCCAGGGTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGG TCTAGAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGG GTCCCAGAGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAG GAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGA GTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCC	G G	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19058.hp2 NA19087.hp1 NA18985.hp2 NA19058.hp2 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0032 a0001c0003t0001g0001 a0001c0003t0001g0032	3	298	0.0101	-288	c.394 others(15): Show c.394-998_394-711del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19						chr9	TogoVar
GTF2H5_chr6_158163350_158204344	158202958	CAATATCT others(281): Show CAATATCTTTCTCCTCATGATGATTAAGTATTCGATTGTCAAGTTTCTTG AACTGATTGCTTTATGGCATATATACTGTCTCCTTCCCCAAACCCAAAAC CGTTTTTTTGAAAGGGATAATAAGTATTGCATAAATACACCAATTGATCT ATCAATTGATCATTTGATTGTTAGTTAAGAAGAAAAGATATACAATAAAT TCTCTTGACAGGCTTGTTCCTGCAAGTGTCTAGAAATTATTAAAATCTTC AGGTCACAAAAACTTAAATTTAATCTCCAAATTTAATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18977.hp2 NA19007.hp1 HG00621.hp1 NA18977.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0005g0004 a0001c0001t0001g0004 a0001c0001t0005g0004	3	384	0.0078	-288	c.10 others(13): Show c.10802_*11089del		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding					3615		chr6	TogoVar
IBA57_chr1_228160804_228187257	228174224	GCTGTGGG others(281): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCG TGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02698.hp2 HG03710.hp2 others(2): Show HG01123.hp1 HG02698.hp2 HG03710.hp2 HG04204.hp1 NA19057.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0006 a0003c0003t0002 a0002c0002t0001 a0002c0002t0006 a0003c0003t0002	a0002c0002t0001g0056 a0002c0002t0006g0056 a0003c0003t0002g0137 others(2): Show a0002c0002t0001g0056 a0002c0002t0006g0056 a0003c0003t0002g0137 a0003c0003t0002g0141 a0003c0003t0002g0237	5	416	0.0120	-288	c.342 others(15): Show c.342-464_342-177del		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245443495	AGGTCATC others(281): Show AGGTCATCTCCCTCACTGTTCATCCTGCGGTCATCTCCCTCACTGTTCAC CTAGAGTGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACC GTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCT CTCTCACTGTTCACCTAGAGGAGAGGTCATCTCCCTCACTGTTCACCCTG CGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTC ATCTAGAGGAGAGGTCATCTCCCTCACTGTTCACCCTGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG01123.hp2 others(24): Show HG00408.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02818.hp2 HG03017.hp1 HG03195.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18971.hp2 NA18999.hp2 NA19002.hp2 NA19043.hp1 NA19085.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0022	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0012 a0001c0040 a0001c0047 a0002c0003 a0003c0025 a0003c0026 a0003c0028 a0003c0060 a0005c0017 a0008c0062 a0022c0023	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(21): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0002t0003 a0001c0002t0019 a0001c0002t0053 a0001c0002t0059 a0001c0005t0007 a0001c0010t0026 a0001c0012t0082 a0001c0040t0002 a0001c0047t0009 a0002c0003t0004 a0003c0025t0056 a0003c0026t0003 a0003c0028t0003 a0003c0060t0007 a0005c0017t0002 a0008c0062t0086 a0022c0023t0005	a0001c0001t0002g0046 a0001c0001t0006g0104 a0001c0001t0009g0149 others(24): Show a0001c0001t0002g0046 a0001c0001t0006g0104 a0001c0001t0009g0149 a0001c0001t0025g0072 a0001c0001t0025g0074 a0001c0001t0036g0138 a0001c0001t0038g0107 a0001c0001t0041g0022 a0001c0002t0003g0012 a0001c0002t0003g0015 a0001c0002t0003g0027 a0001c0002t0019g0061 a0001c0002t0053g0121 a0001c0002t0059g0158 a0001c0005t0007g0024 a0001c0010t0026g0060 a0001c0012t0082g0130 a0001c0040t0002g0026 a0001c0047t0009g0127 a0002c0003t0004g0142 a0003c0025t0056g0057 a0003c0026t0003g0058 a0003c0028t0003g0011 a0003c0060t0007g0037 a0005c0017t0002g0045 a0008c0062t0086g0148 a0022c0023t0005g0117	27	160	0.1688	-288	c.116 others(21): Show c.1166+23772_1166+24059del		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIR3DL1_chr19_54811468_54835778	54832863	ATATGGGC others(281): Show ATATGGGCCTGGAGGTGGAGTTATGGGCCTGGAGTGGAGATCTGGGCCTA GAGATGGAGTGATGAGCCTAGAAGTGGAGATCTGCGCCTGGAGTGGAGAT CTGGGCCTGGAGTGAAGATCTGGGCCTGGAGTGGAGATATGGGCCTGGAG TGGGGATAGGAACCTGGAGTGGAGAGAGGAACCTGGAGGAGAGATAGGAA CCTGGAGGGGAGGTAGGAGCCTAGGGTGGAGATATGGGACTGGAGTGGAG ATATGGGACTGGAGTGGAGATATGGGCCTGGAGTGGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	395	0.0025	-288	c.25 others(11): Show c.2589_*2876del		KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding					2086		chr19	TogoVar
LAMP1_chr13_113292239_113328672	113314392	ATGTGCCT others(281): Show ATGTGCCTGGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGT GTGCCTGGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGCCAGTGT GCCTGGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTGTGC CTGGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGTCGGTGTGCCT GGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCTGG GGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGTCGG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02080.hp1 HG01993.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0144 a0001c0001t0001g0090 a0001c0001t0001g0144	2	354	0.0057	-288	c.562 others(17): Show c.562+3618_562+3905del		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LMF1_chr16_848634_975984	953424	CGTTCACA others(281): Show CGTTCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGA CACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCA GCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCA CACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCC AAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACA TGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19010.hp1 NA20300.hp1 others(1): Show NA18906.hp2 NA19010.hp1 NA20300.hp1 NA20752.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0004c0029 a0018c0058 a0001c0001 a0004c0029 a0018c0058	a0001c0001t0001 a0004c0029t0003 a0018c0058t0001 a0001c0001t0001 a0004c0029t0003 a0018c0058t0001	a0001c0001t0001g0169 a0001c0001t0001g0178 a0004c0029t0003g0203 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0178 a0004c0029t0003g0203 a0018c0058t0001g0236	4	294	0.0136	-288	c.503 others(15): Show c.503+645_503+932del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953427	TCACACAG others(281): Show TCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACAC AGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	294	0.0034	-288	c.503 others(15): Show c.503+642_503+929del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LYPD8_chr1_248734415_248760759	248746740	GCCCGCAC others(281): Show GCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCA CCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCC GCACGGCCAGCACCCACCCAGGGCATCACCCGCACGGCCAGCACCCACCC AGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGC CAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCA GGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	374	0.0027	-288	c.337 others(17): Show c.337+1261_338-1462del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MOV10L1_chr22_50085006_50166687	50147175	GGCAGGCC others(281): Show GGCAGGCCGCTCTCTCAGAGGCACTCTGTGCAGAAGCAGGGAGGGTGCTG CAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCA GGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGG CCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCC GCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGC TCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01243.hp1 HG01261.hp1 others(22): Show HG00408.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02735.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp1 NA18906.hp1 NA18965.hp2 NA18973.hp2 NA19003.hp1 NA19054.hp1 NA19064.hp2 NA19090.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0014 a0015 a0016	a0001c0001 a0001c0005 a0001c0007 others(8): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0003c0003 a0003c0012 a0004c0008 a0006c0025 a0014c0041 a0015c0035 a0016c0029	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(8): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0002c0002t0002 a0003c0003t0002 a0003c0012t0002 a0004c0008t0001 a0006c0025t0001 a0014c0041t0002 a0015c0035t0001 a0016c0029t0001	a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0063 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0153 a0001c0001t0001g0227 a0001c0005t0001g0173 a0001c0007t0001g0056 a0001c0007t0001g0212 a0002c0002t0002g0009 a0003c0003t0002g0344 a0003c0003t0002g0348 a0003c0003t0002g0350 a0003c0003t0002g0359 a0003c0012t0002g0323 a0004c0008t0001g0003 a0004c0008t0001g0083 a0006c0025t0001g0077 a0014c0041t0002g0031 a0015c0035t0001g0004 a0016c0029t0001g0206	25	400	0.0625	-288	c.262 others(19): Show c.2627+1387_2627+1674del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50147197	ACTCTGTG others(281): Show ACTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGC TCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTC TGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTG TGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTG CAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCA GAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG03579.hp1 others(4): Show HG00099.hp2 HG01243.hp2 HG03579.hp1 HG04115.hp1 NA18960.hp1 NA19009.hp1 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0001c0011 others(1): Show a0001c0001 a0001c0005 a0001c0011 a0006c0006	a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 a0006c0006t0001	a0001c0001t0001g0289 a0001c0005t0001g0167 a0001c0005t0001g0296 others(4): Show a0001c0001t0001g0289 a0001c0005t0001g0167 a0001c0005t0001g0296 a0001c0005t0001g0312 a0001c0011t0001g0042 a0001c0011t0001g0043 a0006c0006t0001g0261	7	400	0.0175	-288	c.262 others(19): Show c.2627+1514_2627+1801del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195779095	GGAAGAGA others(281): Show GGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGG AAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAA GAGGGGTGGCCTGACCTGTGGATGCAGAGGAAGTGTCGGTGACAGGAAGA GGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGG GGTGGCGTGACCGGTGGATGCTGAGGAAGCATCGGTGACAGGAAGAGTGC TGGTGTCACCTCTGGATGCTGAGGAAGGGCTGGTGACAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02071.hp1 HG02071.hp1	a0145 a0145	a0145c0070 a0145c0070	a0145c0070t0001 a0145c0070t0001	a0145c0070t0001g0169 a0145c0070t0001g0169	1	249	0.0040	-288	c.121 others(11): Show c.12197_12484del	p.His others(15): Show p.His4066_Leu4161del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12596/16756	12197/16239	4066/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195780253	GGCGTGGC others(281): Show GGCGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAAGAAGAGG GGTGGCGTGACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGG TGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTG ACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGT GTGACCTGAGGATGATGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCCT GACCTGTGGATGCTGAGGAAGTGTCCGTGACAGGAAGAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01975.hp1 HG02647.hp2 HG02717.hp1 HG01975.hp1 HG02647.hp2 HG02717.hp1	a0066 a0068 a0071 a0066 a0068 a0071	a0066c0177 a0068c0171 a0071c0175 a0066c0177 a0068c0171 a0071c0175	a0066c0177t0004 a0068c0171t0005 a0071c0175t0005 a0066c0177t0004 a0068c0171t0005 a0071c0175t0005	a0066c0177t0004g0226 a0068c0171t0005g0229 a0071c0175t0005g0227 a0066c0177t0004g0226 a0068c0171t0005g0229 a0071c0175t0005g0227	3	249	0.0121	-288	c.110 others(11): Show c.11039_11326del	p.Arg others(15): Show p.Arg3680_Thr3775del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11438/16756	11039/16239	3680/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783455	CGGTGACA others(281): Show CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGT GACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGA CAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCGTCGGTGACA AGAAGAGGAGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGG AAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02486.hp2 HG02486.hp2	a0037 a0037	a0037c0149 a0037c0149	a0037c0149t0006 a0037c0149t0006	a0037c0149t0006g0079 a0037c0149t0006g0079	1	249	0.0040	-288	c.783 others(9): Show c.7837_8124del	p.Ser others(15): Show p.Ser2613_Thr2708del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8236/16756	7837/16239	2613/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785375	TAGTGACA others(281): Show TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGGT GACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCTGGTGA CAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGGTGACC GGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGG AAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01975.hp1 HG02451.hp2 HG01975.hp1 HG02451.hp2	a0066 a0072 a0066 a0072	a0066c0177 a0072c0173 a0066c0177 a0072c0173	a0066c0177t0004 a0072c0173t0004 a0066c0177t0004 a0072c0173t0004	a0066c0177t0004g0226 a0072c0173t0004g0225 a0066c0177t0004g0226 a0072c0173t0004g0225	2	249	0.0080	-288	c.591 others(9): Show c.5917_6204del	p.Asp others(15): Show p.Asp1973_Thr2068del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6316/16756	5917/16239	1973/5412			chr3	TogoVar
NKAIN1_chr1_31174745_31244887	31202934	ACCACTGC others(281): Show ACCACTGCACTCTAGCCTGGTGACAGAGCGAGATTCCGTCTTAAAAAAAA AAAAAAAAGGCCAGGGGCAGTGGCTCACGCGGGTAATCCCAGCACTTTGG GAAGCCAAGGTGGGCGGACTCCTGAGGTCAGGAGTTCGAGACCAGCCTGG CCAACATGGTGAAACCCATCTCTACAAAAAATACAAAAATTAGACAGGCA TGGTGGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTT GCACCCGGGAGGCAGAGGTTGCAGTAAGCCGAGATTGCG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	338	0.0030	-288	c.55- others(17): Show c.55-15035_55-14748del		NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6						chr1	TogoVar
NKD2_chr5_1003802_1043943	1025577	TCTGTGGG others(281): Show TCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCC CACCCTCTGTGGGTGCCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTA GTGGGCATCTCAGCCCGTTGTCCCTGCTCTTCCCACCCG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02738.hp2 NA19067.hp1 HG00558.hp1 HG02738.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0207 a0001c0001t0001g0236 a0001c0001t0001g0023 a0001c0001t0001g0207 a0001c0001t0001g0236	3	319	0.0094	-288	c.142 others(17): Show c.142-6563_142-6276del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
OTUD7A_chr15_31470398_31875673	31511365	TATATATG others(281): Show TATATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAA CACACACATATATGTATATCTATATGTAACACACACATATATGTATATCT ATATGTAACACACACATATATGTATATCTATATGTAACACACACATATAT GTATATCTATATGTAACACACACATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG02897.hp2 HG02572.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0023 a0001c0004t0050 a0001c0002t0023 a0001c0004t0050	a0001c0002t0023g0033 a0001c0002t0023g0209 a0001c0004t0050g0009 a0001c0002t0023g0033 a0001c0002t0023g0209 a0001c0004t0050g0009	3	244	0.0123	-288	c.894 others(17): Show c.894-7835_894-7548del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PADI1_chr1_17200128_17251007	17241451	GAGGGTTG others(281): Show GAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTG AAAGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCAGAATCGG GATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGT TGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTC GGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGA ATCAGGGTTGGAAGTGAAAGTCGGAATCGGGATGGAATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(39): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG02083.hp1 HG02132.hp2 HG02165.hp2 HG02300.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp2 NA18951.hp1 NA18970.hp2 NA18989.hp2 NA19009.hp2 NA19043.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0017 a0001c0029 a0001c0034 a0003c0012 a0003c0030 a0003c0031	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0017t0001 a0001c0029t0001 a0001c0034t0001 a0003c0012t0001 a0003c0030t0001 a0003c0031t0001	a0001c0001t0001g0052 a0001c0001t0001g0126 a0001c0001t0001g0276 others(37): Show a0001c0001t0001g0052 a0001c0001t0001g0126 a0001c0001t0001g0276 a0001c0001t0001g0336 a0001c0002t0001g0055 a0001c0002t0001g0084 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0148 a0001c0002t0001g0167 a0001c0002t0001g0224 a0001c0002t0001g0238 a0001c0002t0001g0244 a0001c0002t0001g0254 a0001c0002t0001g0268 a0001c0002t0001g0306 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0001g0320 a0001c0003t0001g0130 a0001c0004t0001g0004 a0001c0004t0001g0089 a0001c0004t0001g0093 a0001c0004t0001g0193 a0001c0004t0001g0247 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0005t0001g0006 a0001c0006t0001g0114 a0001c0008t0001g0124 a0001c0009t0001g0024 a0001c0017t0001g0020 a0001c0029t0001g0155 a0001c0034t0001g0025 a0003c0012t0001g0069 a0003c0012t0001g0073 a0003c0030t0001g0112 a0003c0031t0001g0168	42	406	0.1035	-288	c.175 others(18): Show c.1758+743_1758+1030del		PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17241623	GATGGAAT others(281): Show GATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGT TGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAAAGTC GGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGA ATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAG TGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATC GGGATGGAATCAGGGTTGCAAGTGAATGTCGGAATCGGC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0229 a0001c0001t0005g0229	1	406	0.0025	-288	c.175 others(18): Show c.1758+899_1758+1186del		PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE6B_chr4_620573_675782	635208	CGTGTTCT others(281): Show CGTGTTCTGTGCTGCGTGTCCACCTCCTTACCTGCCTGCCCGCCTGCCTG CGTGTTCTGTGCTGCGCGTCTGCCTCCCTGCCTGCCTCCCTGCCCGCCTG CCCGCGTGTTCTGTGCTGTGCGTCCACCTCCTTACCTGCCTGCCTGCCTG CCCGCGTGTTCTGTGCCACGCGTCTGCCTCCCTGCCTGCCTGCCCGTGTG TTCTGTGCTGTGCGTCCACCTCCTTACCTGCCTGCCTGCCTGCCTGCGTG TTCTGTGCCACGCGTCTGCCTCCCTGCCTGCCTGCCCGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG02622.hp2 others(7): Show HG00642.hp2 HG01358.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02895.hp1 HG02922.hp1 HG03453.hp2 HG03490.hp2 NA19030.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0001c0025 a0004c0007 others(2): Show a0001c0001 a0001c0025 a0004c0007 a0006c0013 a0007c0028	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0025t0001 a0004c0007t0008 a0006c0013t0010 a0007c0028t0008	a0001c0001t0001g0005 a0001c0001t0006g0255 a0001c0001t0012g0027 others(7): Show a0001c0001t0001g0005 a0001c0001t0006g0255 a0001c0001t0012g0027 a0001c0025t0001g0005 a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 a0006c0013t0010g0041 a0006c0013t0010g0042 a0007c0028t0008g0256	10	308	0.0325	-288	c.621 others(15): Show c.621+393_622-371del		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PHF2_chr9_93571584_93684587	93671636	ACAGGTGT others(281): Show ACAGGTGTAGATGCAGTTGTGGGTGTGGATGTAGGTACAGGTGTAGATGC AGGTGTGGGTGTGGATGTAGGTACAGGTGTAGATGCAGGTGTGGGTGTGG ATGTAGGTACAGGTGTAGATGCAGATGTGGGTGTGGATGTAGGTACAGGT GTAGATGCAGGTGTGGGTGTGGATGTAGGTACAGGTGTAGATGCAGATGT GGGTGTGGGAGTAGGCACAGGTGTAGATGCAGGTGTGGGTGTGGATGTAG GTACAGGTGTAGATGCAGATGTGGGTGTGGGAGTAGGGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00738.hp2 others(18): Show HG00423.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG02056.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 NA18968.hp2 NA18999.hp2 NA19057.hp1 NA19065.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0012 a0001c0004 a0001c0005 a0001c0012	a0001c0004t0005 a0001c0004t0010 a0001c0005t0005 others(3): Show a0001c0004t0005 a0001c0004t0010 a0001c0005t0005 a0001c0005t0010 a0001c0005t0014 a0001c0012t0005	a0001c0004t0005g0002 a0001c0004t0005g0066 a0001c0004t0005g0067 others(15): Show a0001c0004t0005g0002 a0001c0004t0005g0066 a0001c0004t0005g0067 a0001c0004t0005g0068 a0001c0004t0005g0070 a0001c0004t0005g0071 a0001c0004t0005g0072 a0001c0004t0005g0074 a0001c0004t0010g0004 a0001c0005t0005g0056 a0001c0005t0005g0059 a0001c0005t0010g0058 a0001c0005t0010g0061 a0001c0005t0010g0063 a0001c0005t0014g0209 a0001c0005t0014g0210 a0001c0012t0005g0010 a0001c0012t0005g0011	21	350	0.0600	-288	c.234 others(19): Show c.2349-1933_2349-1646del		PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PHLDA2_chr11_2923273_2934420	2925966	GCTGCCAG others(281): Show GCTGCCAGCCACCCGAACCCCAGAACCGCACCAGACACTGCCAGCCACCC GAACCCCAGAACCGCACCAGACACTGCCAGCCACCCGAACCCCAGAACCG CACCAGACACTGCCAGCCACCCGAACCCCAGAACCGCACCAGACAGTGCC AGCCACCCGAACCCCAGAACCGCACCAGACACTGCCAGCCACCCGAACCC CAGAACCGCACCAGACAGTGCCAGCCACCCGAACCCCAGAACCGCACCAG ACACTGCCAGCCACCCGAACCCCAGAACCGCACCAGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	-288	c.24 others(11): Show c.2424_*2711del		PHLDA2	ENSG00000181649.8	transcript	ENST00000314222.5	protein_coding					2306		chr11	TogoVar
PIGQ_chr16_564968_589109	579458	ATGCCCCG others(281): Show ATGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAGAGGT GCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAGAGGTGC CCCGGGCCCGGAGACTTGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCC CGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCG GGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTTGAGGTGCCCCGGG CCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTTGAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp1 HG01243.hp2 NA18522.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0195 a0002c0001t0001g0204 a0002c0001t0001g0195 a0002c0001t0001g0204	2	408	0.0049	-288	c.133 others(17): Show c.1335+346_1336-370del		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PPP1R12B_chr1_202343699_202597702	202458119	AGTTTTGT others(281): Show AGTTTTGTTTTTCAAAGAAACCCAAGACTGGTATTCCACTGGAGAAACTT TGGAAATTGTCAAGCTAGAGAGGTAGGCAGGAACCAAATCATGTAGATTT TTGTCTGTACTATGCTAAGAAATTTGAATTTCTAGTCTCAAAGCTATGGA ATACAATTGAGGGAATAAATAGGATCACTCAAAAGCTTTCTTAGGGTCAT TCCTCTCTGGGGAATGGGGAGAGTGGGACGTGGGAGTGGTTAGGGAATTT GCAGCATTTTCCAAATTTCTGAGTCCATCTAGTAGTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(100): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG04199.hp2 HG06807.hp2 NA18906.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18970.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0006 a0001c0001 a0008c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0072 a0001c0001t0073 a0001c0001t0091 a0008c0006t0001	a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0169 others(100): Show a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0253 a0001c0001t0005g0166 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0194 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0216 a0001c0001t0005g0220 a0001c0001t0005g0222 a0001c0001t0005g0248 a0001c0001t0006g0163 a0001c0001t0006g0171 a0001c0001t0006g0173 a0001c0001t0006g0177 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0193 a0001c0001t0006g0207 a0001c0001t0006g0229 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0014g0238 a0001c0001t0014g0243 a0001c0001t0014g0251 a0001c0001t0015g0205 a0001c0001t0015g0206 a0001c0001t0015g0208 a0001c0001t0019g0167 a0001c0001t0019g0218 a0001c0001t0020g0215 a0001c0001t0020g0217 a0001c0001t0021g0249 a0001c0001t0021g0254 a0001c0001t0024g0164 a0001c0001t0024g0185 a0001c0001t0025g0233 a0001c0001t0025g0234 a0001c0001t0026g0008 a0001c0001t0026g0009 a0001c0001t0037g0006 a0001c0001t0038g0005 a0001c0001t0039g0011 a0001c0001t0040g0247 a0001c0001t0041g0227 a0001c0001t0042g0226 a0001c0001t0043g0213 a0001c0001t0044g0252 a0001c0001t0045g0189 a0001c0001t0046g0170 a0001c0001t0047g0240 a0001c0001t0048g0197 a0001c0001t0049g0245 a0001c0001t0050g0175 a0001c0001t0051g0232 a0001c0001t0056g0209 a0001c0001t0057g0241 a0001c0001t0058g0250 a0001c0001t0059g0176 a0001c0001t0060g0007 a0001c0001t0072g0012 a0001c0001t0073g0010 a0001c0001t0091g0180 a0008c0006t0001g0190	103	254	0.4055	-288	c.185 others(19): Show c.1850+9112_1850+9399del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	13/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122571	GGTGGTTA others(281): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGG TGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGT TAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTA GGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02165.hp1 HG02165.hp2 others(6): Show HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02723.hp2 HG02818.hp2 HG03927.hp2 HG04228.hp2 NA18956.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0090 a0001c0001t0001g0119 a0001c0001t0001g0123 others(6): Show a0001c0001t0001g0090 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0251 a0001c0002t0002g0043 a0001c0004t0001g0145 a0001c0004t0002g0037 a0001c0004t0002g0038 a0001c0004t0002g0040	9	286	0.0315	-288	c.335 others(19): Show c.335-12685_335-12398del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130646118	ACCACCTG others(281): Show ACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCA CCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACC TGCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTC CCTCTCCACCTGCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTCCCTCACCACCTGCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02818.hp1 others(1): Show HG01884.hp1 HG02615.hp1 HG02818.hp1 HG02970.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0009 a0002c0014 others(1): Show a0001c0002 a0002c0009 a0002c0014 a0006c0018	a0001c0002t0002 a0002c0009t0001 a0002c0014t0004 others(1): Show a0001c0002t0002 a0002c0009t0001 a0002c0014t0004 a0006c0018t0001	a0001c0002t0002g0060 a0002c0009t0001g0147 a0002c0014t0004g0144 others(1): Show a0001c0002t0002g0060 a0002c0009t0001g0147 a0002c0014t0004g0144 a0006c0018t0001g0059	4	180	0.0222	-288	c.-35 others(21): Show c.-351-17950_-351-17663del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RPTOR_chr17_80539838_80971368	80743965	CCCTGGCT others(281): Show CCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	196	0.0051	-288	c.655 others(18): Show c.655-10029_655-9742del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	CCCTGGCT others(281): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGG CTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02145.hp1 HG02559.hp1	a0001 a0001	a0001c0046 a0001c0050 a0001c0046 a0001c0050	a0001c0046t0024 a0001c0050t0007 a0001c0046t0024 a0001c0050t0007	a0001c0046t0024g0164 a0001c0050t0007g0148 a0001c0046t0024g0164 a0001c0050t0007g0148	2	196	0.0102	-288	c.655 others(17): Show c.655-9507_655-9220del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744619	TTACTAGC others(281): Show TTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01167.hp1 others(8): Show HG00140.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01261.hp1 HG01361.hp2 HG01517.hp1 HG01934.hp2 HG02258.hp1 HG02683.hp1 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0011 others(5): Show a0001c0004 a0001c0010 a0001c0011 a0001c0015 a0001c0021 a0001c0027 a0001c0033 a0001c0079	a0001c0004t0014 a0001c0004t0023 a0001c0010t0056 others(8): Show a0001c0004t0014 a0001c0004t0023 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0015t0046 a0001c0021t0079 a0001c0027t0016 a0001c0027t0096 a0001c0033t0023 a0001c0079t0050	a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0010t0056g0183 others(8): Show a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0047g0076 a0001c0015t0046g0079 a0001c0021t0079g0005 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0033t0023g0075 a0001c0079t0050g0097	11	196	0.0561	-288	c.655 others(17): Show c.655-9382_655-9095del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP12_chr10_97351701_97406340	97398065	TGAGATGG others(281): Show TGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02809.hp1 HG01123.hp2 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0003c0002 a0001c0011 a0003c0002	a0001c0011t0001 a0003c0002t0002 a0001c0011t0001 a0003c0002t0002	a0001c0011t0001g0202 a0003c0002t0002g0267 a0001c0011t0001g0202 a0003c0002t0002g0267	2	400	0.0050	-288	c.369 others(17): Show c.369+1952_370-1765del		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33						chr10	TogoVar
SDHA_chr5_213320_262082	260241	GAGCATTA others(281): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	266	0.0038	-288	c.38 others(11): Show c.3822_*4109del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					3160		chr5	TogoVar
SLC22A18_chr11_2897278_2930246	2925966	GCTGCCAG others(281): Show GCTGCCAGCCACCCGAACCCCAGAACCGCACCAGACACTGCCAGCCACCC GAACCCCAGAACCGCACCAGACACTGCCAGCCACCCGAACCCCAGAACCG CACCAGACACTGCCAGCCACCCGAACCCCAGAACCGCACCAGACAGTGCC AGCCACCCGAACCCCAGAACCGCACCAGACACTGCCAGCCACCCGAACCC CAGAACCGCACCAGACAGTGCCAGCCACCCGAACCCCAGAACCGCACCAG ACACTGCCAGCCACCCGAACCCCAGAACCGCACCAGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0076 a0003c0004t0001g0076	1	405	0.0025	-288	c.77 others(10): Show c.770_*1057del		SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding					721		chr11	TogoVar
SMYD3_chr1_245744347_246512279	245974465	TAAAGCCA others(281): Show TAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	150	0.0067	-288	c.532 others(19): Show c.532-44816_532-44529del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974701	CAGGGAAA others(281): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0002 a0001c0009t0001g0002	1	150	0.0067	-288	c.532 others(19): Show c.532-45052_532-44765del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974725	CAGGGAAA others(281): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0119 a0002c0004t0001g0119	1	150	0.0067	-288	c.532 others(19): Show c.532-45076_532-44789del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975105	AGCCTAGG others(281): Show AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0049 a0001c0011t0002g0049	1	150	0.0067	-288	c.532 others(19): Show c.532-45456_532-45169del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar

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Search Results (Total: 10000 hits)