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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SGIP1_chr1_66529153_66756139	66630829	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0294 a0002c0002t0003g0294	1	302	0.0033	104	c.75- others(119): Show c.75-2222_75-2221insGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630833	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0130 a0002c0003t0005g0130	1	302	0.0033	104	c.75- others(119): Show c.75-2206_75-2205insGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3RF1_chr4_169089259_169275956	169178281	T T	TAAATAAG others(97): Show TAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTATTTA AAAAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTATT TAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 NA18951.hp2 HG02622.hp1 HG02976.hp1 NA18951.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0002 a0001c0006t0003 a0003c0005t0010 a0001c0001t0002 a0001c0006t0003 a0003c0005t0010	a0001c0001t0002g0032 a0001c0006t0003g0051 a0003c0005t0010g0052 a0001c0001t0002g0032 a0001c0006t0003g0051 a0003c0005t0010g0052	3	216	0.0139	104	c.394 others(123): Show c.394-21603_394-21602insTTTTAAATAAGCATAGTTGCTTATTT TTTTAAATAAGCATAGTTGCTTATTTTTTTAAATAAGCATAGTTGCTTAT TTTTTTAAATAAGCATAGTTGCTTATTT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8211369	T T	TCCTCTCC others(97): Show TCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGG TTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCT CCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp2 NA18975.hp2 others(1): Show HG00423.hp2 HG02132.hp2 NA18975.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0001 a0002c0003t0001 a0002c0007t0001 a0001c0001t0001 a0002c0003t0001 a0002c0007t0001	a0001c0001t0001g0059 a0002c0003t0001g0052 a0002c0003t0001g0066 others(1): Show a0001c0001t0001g0059 a0002c0003t0001g0052 a0002c0003t0001g0066 a0002c0007t0001g0042	4	374	0.0107	104	c.248 others(121): Show c.248-1319_248-1318insCAGTTTCTCCCCTCTCCCTCCCTCTCCC CCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTC TCCCTTCTCCCTCCCTCTCCCCCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8211402	T T	TCCTCTCC others(97): Show TCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCAG TTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCT CCCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01167.hp1 others(3): Show HG00741.hp1 HG01109.hp1 HG01167.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2	a0001 a0007 a0008 others(2): Show a0001 a0007 a0008 a0022 a0036	a0001c0021 a0001c0033 a0007c0019 others(3): Show a0001c0021 a0001c0033 a0007c0019 a0008c0086 a0022c0083 a0036c0075	a0001c0021t0001 a0001c0033t0001 a0007c0019t0001 others(3): Show a0001c0021t0001 a0001c0033t0001 a0007c0019t0001 a0008c0086t0001 a0022c0083t0003 a0036c0075t0001	a0001c0021t0001g0104 a0001c0033t0001g0327 a0007c0019t0001g0360 others(3): Show a0001c0021t0001g0104 a0001c0033t0001g0327 a0007c0019t0001g0360 a0008c0086t0001g0361 a0022c0083t0003g0108 a0036c0075t0001g0109	6	374	0.0160	104	c.248 others(121): Show c.248-1271_248-1270insTCCTTCCTCTCCCCCTCCCAGTTTCTCC CCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCC TCTCCCCCTCCTGGTTTCTCCCCTCT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHC2_chr19_411589_466033	433102	T T	TGGCGCTT others(97): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGG CAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0182 a0003c0008t0005g0182	1	212	0.0047	104	c.111 others(123): Show c.1110+1606_1110+1607insGCCCGGCCTCCTCTATCTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCA CTCACGATCTCACTCACGATGAAGCGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC10A5_chr8_81688631_81700058	81688664	A A	AAAAGAAA others(97): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	426	0.0024	104	c.49 others(115): Show c.4991_*4992insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC10A5	ENSG00000253598.3	transcript	ENST00000518568.3	protein_coding		4966		chr8	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	T T	TTTTCTTT others(97): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	350	0.0029	104	c.377 others(121): Show c.377+5952_377+5953insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1070728	C C	CAGCCCCC others(97): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0026 a0001c0010t0005g0026	1	118	0.0085	104	c.224 others(123): Show c.2241+2904_2241+2905insCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071368	C C	CAGCCCCC others(97): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CAGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0006t0011g0078 a0001c0006t0011g0079	2	118	0.0170	104	c.224 others(123): Show c.2241+2264_2241+2265insCACTGGGGCTGCATAAGTGTGATGCC CGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGCTGCATAAGTGTGATG CCCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071657	C C	CAGCCCCC others(97): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAACGCAGCCCC CAGTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	118	0.0085	104	c.224 others(123): Show c.2241+1975_2241+1976insCACTGGGGGCTGCGTTAAGTGTGATG CCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071991	G G	GCCCCAGT others(97): Show GCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCAGTGAGCCCCCAGCACACAGGCATCACACTTATGCAGCCCCAG TGAGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0107 a0001c0028t0002g0107	1	118	0.0085	104	c.224 others(123): Show c.2241+1641_2241+1642insGCTCACTGGGGCTGCATAAGTGTGAT GCCTGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A24_chr11_63074940_63149221	63092529	C C	CATGGTAC others(97): Show CATGGTACTGATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATGGAACAGAACAGAGACCT CAGAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	366	0.0027	104	c.107 others(123): Show c.1070+3461_1070+3462insTTCTGAGGTCTCTGTTCTGTTCCATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATCAGTACCAT	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	6/9			chr11	TogoVar
SLC25A45_chr11_65370192_65387646	65374305	C C	CCCATGTG others(97): Show CCCATGTGCCCAGGTGGAGCAGGGTAGCCATGTGCCCAGGTGGAGCAGGG TAGCCATGTGCCCAGGTGGAGCAGGGTAGCCATGTGCCCAGGTGGAGCAG GGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	104	c.21 others(115): Show c.2101_*2102insCTACCCTGCTCCACCTGGGCACATGGCTACCCTG CTCCACCTGGGCACATGGCTACCCTGCTCCACCTGGGCACATGGCTACCC TGCTCCACCTGGGCACATGG	SLC25A45	ENSG00000162241.13	transcript	ENST00000398802.6	protein_coding		886		chr11	TogoVar
SLC25A4_chr4_185138266_185155382	185141247	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0033 a0001c0001t0015g0033	1	444	0.0023	104	c.-21 others(115): Show c.-2126_-2125insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC25A4	ENSG00000151729.11	transcript	ENST00000281456.11	protein_coding		2018		chr4	TogoVar
SLC27A5_chr19_58493333_58516992	58502426	G G	GACAGTTA others(97): Show GACAGTTAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGAGTAGTGAG TGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGAAGATGGATG GGTGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19000.hp2 NA19009.hp1 NA18951.hp1 NA19000.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0241 a0001c0001t0001g0046 a0001c0001t0001g0241	3	424	0.0071	104	c.105 others(123): Show c.1058-1017_1058-1016insTCACCCATCCATCTTCTCACTCACTA CTCTAACTGTTCACCCATCCATCTTCTCACTCACTACTCTGTTCACCCAT CCATCTTCTCACTCACTACTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCGTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0348 a0003c0007t0001g0348	1	396	0.0025	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCGTTCGTTCGTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0017 a0017	a0017c0034 a0017c0034	a0017c0034t0001 a0017c0034t0001	a0017c0034t0001g0352 a0017c0034t0001g0352	1	396	0.0025	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA19010.hp1 NA18987.hp2 NA19010.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0054 a0004c0003t0001g0079 a0004c0003t0001g0054 a0004c0003t0001g0079	2	396	0.0051	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19091.hp1 NA18986.hp1 NA19091.hp1	a0004 a0008 a0004 a0008	a0004c0003 a0008c0010 a0004c0003 a0008c0010	a0004c0003t0001 a0008c0010t0001 a0004c0003t0001 a0008c0010t0001	a0004c0003t0001g0330 a0008c0010t0001g0343 a0004c0003t0001g0330 a0008c0010t0001g0343	2	396	0.0051	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0185 a0003c0005t0002g0185	1	396	0.0025	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928539	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG06807.hp2 NA19068.hp1 HG03688.hp1 HG06807.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0001 a0002c0001t0002 a0001c0004t0001 a0002c0001t0001 a0002c0001t0002	a0001c0004t0001g0082 a0002c0001t0001g0140 a0002c0001t0002g0149 a0001c0004t0001g0082 a0002c0001t0001g0140 a0002c0001t0002g0149	3	396	0.0076	104	c.108 others(123): Show c.1083+4477_1083+4478insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18969.hp2 HG00733.hp1 NA18969.hp2	a0002 a0009 a0002 a0009	a0002c0001 a0009c0013 a0002c0001 a0009c0013	a0002c0001t0001 a0009c0013t0001 a0002c0001t0001 a0009c0013t0001	a0002c0001t0001g0370 a0009c0013t0001g0120 a0002c0001t0001g0370 a0009c0013t0001g0120	2	396	0.0051	104	c.108 others(123): Show c.1083+4477_1083+4478insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0003 a0002c0019t0003	a0002c0019t0003g0100 a0002c0019t0003g0100	1	396	0.0025	104	c.108 others(123): Show c.1083+4481_1083+4482insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0153 a0002c0001t0001g0153	1	396	0.0025	104	c.108 others(123): Show c.1083+4485_1083+4486insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928547	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTCTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0001 a0009c0041t0001	a0009c0041t0001g0056 a0009c0041t0001g0056	1	396	0.0025	104	c.108 others(123): Show c.1083+4473_1083+4474insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTCTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928547	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0217 a0001c0008t0002g0217	1	396	0.0025	104	c.108 others(123): Show c.1083+4481_1083+4482insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928547	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0315 a0002c0001t0001g0315	1	396	0.0025	104	c.108 others(123): Show c.1083+4485_1083+4486insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928551	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18963.hp2 HG00673.hp2 NA18963.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0007 a0002c0001 a0003c0007	a0002c0001t0002 a0003c0007t0001 a0002c0001t0002 a0003c0007t0001	a0002c0001t0002g0230 a0003c0007t0001g0175 a0002c0001t0002g0230 a0003c0007t0001g0175	2	396	0.0051	104	c.108 others(123): Show c.1083+4485_1083+4486insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC43A2_chr17_1564268_1633834	1605551	A A	AGGCTGGG others(97): Show AGGCTGGGGAGCTGGGTGGTGGGTGGGGGCTGCGGAGCTGGGAGGTGGGT GGGGGCTGGGGAGCTGGGTGGTGGGTGGGGGCTGGGGAGCTGGGTGGTGG GTGGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0125 a0001c0002t0125	a0001c0002t0125g0117 a0001c0002t0125g0117	1	382	0.0026	104	c.501 others(121): Show c.501+7643_501+7644insCCCACCCACCACCCAGCTCCCCAGCCCC CACCCACCACCCAGCTCCCCAGCCCCCACCCACCTCCCAGCTCCGCAGCC CCCACCCACCACCCAGCTCCCCAGCC	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(97): Show GGAAGAAGAGGAAGAAGAAAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0162 a0001c0004t0008g0162	1	330	0.0030	104	c.42 others(115): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTC TTTTCTTCTTCCTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC45A1_chr1_8313114_8349165	8331227	G G	GTATTTTT others(97): Show GTATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAA AAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTGTTA AAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	388	0.0026	104	c.144 others(121): Show c.1443+386_1443+387insGTTAAAAAATATTTTTAAAAAACACTTT TAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACT TTTAAAAAATATTTTTAAAAAACACT	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8331227	G G	GTATTTTT others(97): Show GTATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAA AAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTA AAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0153 a0001c0016t0001g0153	1	388	0.0026	104	c.144 others(121): Show c.1443+395_1443+498dupATATTTTTAAAAAACACTTTTAAAAAAT ATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAA ATATTTTTAAAAAACACTTTTAAAAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(97): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACC GTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAG AGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG00741.hp2 HG01433.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0094 a0002c0001t0001g0095	2	188	0.0106	104	c.82 others(115): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCCACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLIT2_chr4_20246905_20625561	20472310	A A	ATATCTAT others(97): Show ATATCTATATATATAGATATATATCTATATATATAGATATATATCTATAT ATCTATATATAGATATATATCTATATATATATAGATATATATCTATATAT AGATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp1 HG00735.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0061 a0001c0002t0002g0047 a0001c0001t0003g0061 a0001c0002t0002g0047	2	230	0.0087	104	c.467 others(121): Show c.467+4490_467+4491insCTATATATATAGATATATATCTATATAT ATAGATATATATCTATATATCTATATATAGATATATATCTATATATATAT AGATATATATCTATATATAGATCTAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472593	T T	TATAGATA others(97): Show TATAGATATATCTATATATATCGATATATATCGATATATATAGATATATC GATATATAGATATATCTATATATATCGATATATATCGATATATCTATATA TATCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0189 a0001c0001t0029g0189	1	230	0.0044	104	c.467 others(121): Show c.467+4773_467+4774insGATATATCTATATATATCGATATATATC GATATATATAGATATATCGATATATAGATATATCTATATATATCGATATA TATCGATATATCTATATATATCGATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD2_chr18_47803957_47935659	47850849	T T	TAATATAT others(97): Show TAATATATATTATATATTATATATATATTATATATATTATGTATAATATA TATTATATATTATATATATATTATATATATTATGTATAATATATATTATA TATTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0297 a0001c0001t0119g0297	1	310	0.0032	104	c.784 others(119): Show c.784+424_784+425insTAATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM36_chr17_55444856_55516452	55500894	A A	ATATTATA others(97): Show ATATTATAATATAAAATATACTATTATATATTATAATATGTAATATACTA TTATATATTATAATATATAATATACTATTTTATATTATAATATATAATAT ATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02622.hp1 others(3): Show HG02145.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0010 a0001c0003t0004 a0001c0001t0004 a0001c0001t0010 a0001c0003t0004	a0001c0001t0004g0235 a0001c0001t0004g0239 a0001c0001t0010g0240 others(3): Show a0001c0001t0004g0235 a0001c0001t0004g0239 a0001c0001t0010g0240 a0001c0001t0010g0241 a0001c0003t0004g0006 a0001c0003t0004g0007	6	340	0.0177	104	c.17 others(123): Show c.174+9984_*174+9985insAATATATATTATATATTATAATATAA AATAGTATATTATATATTATAATATATAATAGTATATTACATATTATAAT ATATAATAGTATATTTTATATTATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168560505	T T	TGAGGCTC others(97): Show TGAGGCTCTCACTGCATTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGA GACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	180	0.0056	104	c.637 others(123): Show c.637+11316_637+11317insATTCTCGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560525	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	180	0.0056	104	c.637 others(123): Show c.637+11367_637+11368insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560577	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	180	0.0056	104	c.637 others(123): Show c.637+11419_637+11420insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560624	A A	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	180	0.0056	104	c.637 others(123): Show c.637+11444_637+11445insCTGCCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560650	A A	ACCCTGAG others(97): Show ACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	180	0.0056	104	c.637 others(123): Show c.637+11472_637+11473insGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560661	C C	CGAGGCTC others(97): Show CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGA GACGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	180	0.0056	104	c.637 others(123): Show c.637+11471_637+11472insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACGTGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560824	C C	CTCACTGC others(97): Show CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0042 a0001c0008t0002g0042	1	180	0.0056	104	c.637 others(123): Show c.637+11679_637+11680insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560837	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	180	0.0056	104	c.637 others(123): Show c.637+11679_637+11680insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560870	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	180	0.0056	104	c.637 others(123): Show c.637+11679_637+11680insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560936	A A	GTTCTTGG others(97): Show GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	180	0.0056	104	c.637 others(123): Show c.637+11732_637+11733insGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560941	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	180	0.0056	104	c.637 others(123): Show c.637+11756_637+11757insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560962	A A	ACCCTGAG others(97): Show ACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	180	0.0056	104	c.637 others(123): Show c.637+11770_637+11771insAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTGCCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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