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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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
SLC38A9_chr5_55620848_55717324	55696275	GGGCGGCT others(41): Show GGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02630.hp1 HG02723.hp1 others(2): Show HG01167.hp2 HG02630.hp1 HG02723.hp1 HG03139.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0209 a0001c0001t0003g0061	5	350	0.0143	-48	c.113 others(65): Show c.113+1523_113+1570delAGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCCGGCCAGCCGCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC39A8_chr4_102256666_102350482	102320439	AATATATA others(41): Show AATATATATATGAGAGTATATATACATATGAGAATATATATATGAGAGT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	266	0.0038	-48	c.220 others(65): Show c.220-4657_220-4610delACTCTCATATATATATTCTCATATGTAT ATATACTCTCATATATATAT	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLC3A1_chr2_44270480_44326494	44286497	ACGGTGCC others(41): Show ACGGTGCCTGTGACGGTGAGCTGTGCGGTGCCTGTGACGGTGAGCTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(163): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0009 a0010	a0001c0002 a0001c0003 a0001c0017 others(8): Show a0001c0002 a0001c0003 a0001c0017 a0002c0001 a0002c0004 a0002c0010 a0002c0013 a0004c0006 a0005c0009 a0009c0012 a0010c0014	a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 others(14): Show a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0017t0007 a0002c0001t0001 a0002c0001t0005 a0002c0001t0008 a0002c0004t0001 a0002c0010t0001 a0002c0013t0001 a0004c0006t0001 a0005c0009t0002 a0009c0012t0001 a0010c0014t0001	a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 others(153): Show a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0009g0175 a0001c0003t0001g0008 a0001c0003t0001g0035 a0001c0003t0001g0066 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0268 a0001c0003t0001g0287 a0001c0003t0002g0018 a0001c0003t0002g0088 a0001c0003t0002g0107 a0001c0003t0002g0113 a0001c0003t0003g0321 a0001c0003t0006g0267 a0001c0017t0007g0161 a0002c0001t0001g0002 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0034 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0050 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0055 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0080 a0002c0001t0001g0081 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0106 a0002c0001t0001g0108 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0318 a0002c0001t0001g0319 a0002c0001t0005g0048 a0002c0001t0005g0065 a0002c0001t0005g0067 a0002c0001t0005g0068 a0002c0001t0008g0109 a0002c0004t0001g0165 a0002c0004t0001g0169 a0002c0004t0001g0170 a0002c0004t0001g0171 a0002c0004t0001g0172 a0002c0004t0001g0238 a0002c0010t0001g0103 a0002c0013t0001g0004 a0004c0006t0001g0049 a0004c0006t0001g0051 a0005c0009t0002g0104 a0009c0012t0001g0082 a0010c0014t0001g0320	166	354	0.4689	-48	c.891 others(63): Show c.891+394_891+441delCCTGTGACGGTGAGCTGTGCGGTGCCTGTG ACGGTGAGCTGTGCGGTG	SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC3A1_chr2_44270480_44326494	44286551	CCTGTGAC others(41): Show CCTGTGACGGTGAGCTGTGCGGTGCCTGTGACGGTGAGCTGTGCGGTGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG03579.hp2 others(1): Show HG02109.hp1 HG02451.hp1 HG03579.hp2 NA18522.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0011 a0001c0003 a0008c0011	a0001c0003t0004 a0008c0011t0004 a0001c0003t0004 a0008c0011t0004	a0001c0003t0004g0015 a0001c0003t0004g0277 a0001c0003t0004g0294 others(1): Show a0001c0003t0004g0015 a0001c0003t0004g0277 a0001c0003t0004g0294 a0008c0011t0004g0015	4	354	0.0113	-48	c.891 others(63): Show c.891+418_891+465delCCTGTGACGGTGAGCTGTGCGGTGTCTGTG ACGGTGAGCTGTGCGGTG	SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC44A5_chr1_75197129_75616114	75330129	ACACACAC others(41): Show ACACACACACACATGCATATACGTATATGCATATATATACGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp2 HG01243.hp2 others(11): Show HG00733.hp1 HG01168.hp2 HG01243.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02273.hp1 HG03491.hp2 HG03492.hp2 NA18949.hp1 NA18964.hp2 NA18977.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0080 others(10): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0080 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0070	14	156	0.0897	-48	c.101 others(65): Show c.101+9405_101+9452delCATATATACGTATATATATGCATATACG TATATGCATGTGTGTGTGTG	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	4/23			chr1	TogoVar
SLC5A10_chr17_18947165_19027565	19025112	CAGCCCAC others(41): Show CAGCCCACTACCGCCAAATCGCCCCGAGTACCTTCTAGCCCAGCGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0218 a0001c0006t0001g0218	1	354	0.0028	-48	c.46 others(59): Show c.4682_*4729delAGCCCACTACCGCCAAATCGCCCCGAGTACCTTC TAGCCCAGCGGAGG	SLC5A10	ENSG00000154025.16	transcript	ENST00000395645.4	protein_coding		2548		chr17	TogoVar
SLC6A12_chr12_185081_219157	197149	CCATCCAT others(41): Show CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0371 a0002c0003t0012g0371	1	420	0.0024	-48	c.107 others(65): Show c.1075+180_1075+227delAATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATG	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC7A10_chr19_33203664_33230850	33215583	ACCCCCAC others(41): Show ACCCCCACACCTTCTCTCCATCCAGCCCCCACACCTTCTCTCCATCCAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	410	0.0024	-48	c.356 others(63): Show c.356+138_356+185delGTGGATGGAGAGAAGGTGTGGGGGCTGGAT GGAGAGAAGGTGTGGGGG	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	2/10			chr19	TogoVar
SLC7A5_chr16_87825023_87874507	87872857	CCTTCCTT others(41): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0374 a0001c0001t0065g0374	1	390	0.0026	-48	c.-34 others(59): Show c.-3483_-3436delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGGAAGGAAG	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3351		chr16	TogoVar
SLC9A2_chr2_102614553_102716355	102632091	CACATATA others(41): Show CACATATATATACATATATATGTATATATACATATATACATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02647.hp1 others(5): Show HG02109.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG03540.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0031	a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0330 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0330 a0001c0001t0002g0118 a0001c0001t0002g0185 a0001c0001t0003g0096 a0001c0001t0012g0329 a0001c0001t0031g0117	8	344	0.0233	-48	c.289 others(67): Show c.289+11956_289+12003delCATATATATACATATATATGTATATA TACATATATACATATATATGTA	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9B2_chr4_103017253_103081761	103046651	ATTTTGTG others(41): Show ATTTTGTGTGAAGTCTCCACACATCTTTTGTGTGAAGTCTCCACACATC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	356	0.0028	-48	c.889 others(63): Show c.889+352_889+399delGATGTGTGGAGACTTCACACAAAAGATGTG TGGAGACTTCACACAAAA	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	7/11			chr4	TogoVar
SLC9C2_chr1_173495460_173608072	173526721	AAAATTAA others(41): Show AAAATTAAGAAAAACATGTATTTCTTATTATTCATATAGTTTCTGTAAG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01192.hp1 HG01243.hp1 others(29): Show HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0006 a0001c0012 others(4): Show a0001c0001 a0001c0006 a0001c0012 a0003c0003 a0003c0014 a0004c0009 a0005c0007	a0001c0001t0002 a0001c0006t0002 a0001c0012t0001 others(4): Show a0001c0001t0002 a0001c0006t0002 a0001c0012t0001 a0003c0003t0002 a0003c0014t0002 a0004c0009t0002 a0005c0007t0001	a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0006t0002g0073 others(29): Show a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0006t0002g0073 a0001c0006t0002g0074 a0001c0012t0001g0030 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0037 a0003c0003t0002g0128 a0003c0003t0002g0200 a0003c0003t0002g0222 a0003c0014t0002g0035 a0003c0014t0002g0036 a0004c0009t0002g0059 a0004c0009t0002g0060 a0004c0009t0002g0061 a0004c0009t0002g0062 a0004c0009t0002g0063 a0004c0009t0002g0064 a0005c0007t0001g0067 a0005c0007t0001g0068 a0005c0007t0001g0069 a0005c0007t0001g0070 a0005c0007t0001g0071 a0005c0007t0001g0116	32	316	0.1013	-48	c.231 others(62): Show c.2314-55_2314-8delCTTACAGAAACTATATGAATAATAAGAAATA CATGTTTTTCTTAATTT	SLC9C2	ENSG00000162753.13	transcript	ENST00000367714.4	protein_coding	18/27			chr1	TogoVar
SLIT3_chr5_168656740_169306139	169290020	AATATGCT others(41): Show AATATGCTAGAACGTACATTAGGGCATACGCCAGGGCACACACTAGGAC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19056.hp2 NA18974.hp1 NA19056.hp2	a0002 a0002	a0002c0030 a0002c0062 a0002c0030 a0002c0062	a0002c0030t0002 a0002c0062t0030 a0002c0030t0002 a0002c0062t0030	a0002c0030t0002g0033 a0002c0062t0030g0032 a0002c0030t0002g0033 a0002c0062t0030g0032	2	132	0.0152	-48	c.197 others(67): Show c.197+10445_197+10492delGTCCTAGTGTGTGCCCTGGCGTATGC CCTAATGTACGTTCTAGCATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	1/35			chr5	TogoVar
SLTM_chr15_58874050_58938679	58922512	CGTATAAA others(41): Show CGTATAAAATTTATACGTATATAATATATTTTATATGTATATAATATGT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	386	0.0026	-48	c.251 others(65): Show c.251-5561_251-5514delACATATTATATACATATAAAATATATTA TATACGTATAAATTTTATAC	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	2/20			chr15	TogoVar
SMARCC1_chr3_47580269_47786893	47608801	ATCATGTC others(41): Show ATCATGTCACTGCACTCCAGCCTAGACAACAGAGCGAGACAGTGTCTTT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	219	0.0046	-48	c.304 others(67): Show c.3043+1217_3043+1264delAAAGACACTGTCTCGCTCTGTTGTCT AGGCTGGAGTGCAGTGACATGA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27			chr3	TogoVar
SMIM10L1_chr12_11166194_11181016	11168259	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01975.hp2 others(13): Show HG00140.hp2 HG01123.hp2 HG01975.hp2 HG02083.hp2 HG02135.hp1 HG02293.hp1 HG03704.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18982.hp2 NA18999.hp1 NA18999.hp2 NA19011.hp1 NA19011.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	16	397	0.0403	-48	c.-30 others(59): Show c.-3097_-3050delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2934		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168267	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	397	0.0025	-48	c.-30 others(59): Show c.-3089_-3042delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGGAAGGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2926		chr12	TogoVar
SMOC2_chr6_168436184_168672992	168592681	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	180	0.0056	-48	c.638 others(65): Show c.638-6136_638-6089delGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592732	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	180	0.0056	-48	c.638 others(65): Show c.638-6085_638-6038delGGCATCTTTCTAGAGGATCTCCGAGCTC CTCCTTCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593191	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGACTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01081.hp1 others(20): Show HG00099.hp2 HG00597.hp1 HG01081.hp1 HG01243.hp2 HG01516.hp1 HG01516.hp2 HG02109.hp2 HG02602.hp1 HG02896.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0013 a0001c0002t0016 a0001c0004t0005	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0131 others(20): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0004t0005g0048	23	180	0.1278	-48	c.638 others(65): Show c.638-5626_638-5579delGGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGACTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593242	GGGCGTCT others(41): Show GGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02129.hp2 HG02895.hp2 others(3): Show HG01496.hp2 HG02129.hp2 HG02895.hp2 HG02897.hp2 HG03490.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0156 a0001c0001t0004g0118 a0001c0002t0002g0028 others(3): Show a0001c0001t0001g0156 a0001c0001t0004g0118 a0001c0002t0002g0028 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0008g0047	6	180	0.0333	-48	c.638 others(65): Show c.638-5575_638-5528delGGCGTCTTTCTAGAGGATCTCCGAGCTC CTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593752	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	180	0.0056	-48	c.638 others(65): Show c.638-5065_638-5018delGGCATCTTTCTAGAGGATCTCCGAGCTC CTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593803	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	180	0.0056	-48	c.638 others(65): Show c.638-5014_638-4967delGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594630	GCATCTTT others(41): Show GCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	180	0.0056	-48	c.638 others(65): Show c.638-4187_638-4140delCATCTTTCTAGAGGATGGCCGAGCTCCT CCTCCTTCCTGAGGCCTCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(41): Show TTATTTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	264	0.0038	-48	c.56- others(63): Show c.56-1448_56-1401delTATATATATATATATATATATATATATATA TATATATATATATAAATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	264	0.0038	-48	c.56- others(63): Show c.56-1452_56-1405delTATATATATATATATATATATATATATATA TATATATATATATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD3_chr1_245744347_246512279	245974989	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	150	0.0067	-48	c.532 others(67): Show c.532-45100_532-45053delGGGCCGGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975085	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03130.hp1 NA18962.hp2 HG00423.hp1 HG03130.hp1 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0002 a0002c0017t0001 a0002c0003t0002 a0002c0017t0001	a0002c0003t0002g0102 a0002c0003t0002g0131 a0002c0017t0001g0122 a0002c0003t0002g0102 a0002c0003t0002g0131 a0002c0017t0001g0122	3	150	0.0200	-48	c.532 others(67): Show c.532-45196_532-45149delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975109	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG02886.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0003 a0002c0003t0001g0096 a0001c0001t0001g0003 a0002c0003t0001g0096	2	150	0.0133	-48	c.532 others(67): Show c.532-45220_532-45173delGGGCCGGAGACGATGGCTTTCCCTAG GCTACAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975129	AGCCTAGG others(41): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	150	0.0067	-48	c.532 others(67): Show c.532-45240_532-45193delCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975421	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	150	0.0067	-48	c.532 others(67): Show c.532-45532_532-45485delAGGCTAGAGACGATGGCTTTCCCTAG GCCAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975445	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0035 a0001c0006t0001g0035	1	150	0.0067	-48	c.532 others(67): Show c.532-45556_532-45509delGGGCCGGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975541	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02647.hp1 HG02027.hp2 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0051 a0002c0004t0001g0107 a0001c0001t0002g0051 a0002c0004t0001g0107	2	150	0.0133	-48	c.532 others(67): Show c.532-45652_532-45605delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975561	AGCCTAGG others(41): Show AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03209.hp1 HG00544.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0089 a0002c0003t0001g0144 a0001c0001t0001g0089 a0002c0003t0001g0144	2	150	0.0133	-48	c.532 others(67): Show c.532-45672_532-45625delCGGAGACGATGGCTTTCCCTAGGCTA CAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975585	AGCCTAGG others(41): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19090.hp2 HG03098.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0013 a0001c0002t0002g0083 a0001c0002t0001g0013 a0001c0002t0002g0083	2	150	0.0133	-48	c.532 others(67): Show c.532-45696_532-45649delCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975751	CCGGCCCA others(41): Show CCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp2 HG01243.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0024 a0002c0003t0002g0147 a0001c0002t0001g0024 a0002c0003t0002g0147	2	150	0.0133	-48	c.532 others(67): Show c.532-45862_532-45815delCAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTGGGCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975757	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp2 HG02559.hp1 HG02056.hp2 HG02071.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0002t0001g0009 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0002t0001g0009	3	150	0.0200	-48	c.532 others(67): Show c.532-45868_532-45821delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975867	GTCTCCGG others(41): Show GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG01975.hp2 HG00408.hp1 HG01081.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0030 a0001c0002t0001g0016 a0001c0002t0002g0037 a0001c0001t0002g0030 a0001c0002t0001g0016 a0001c0002t0002g0037	3	150	0.0200	-48	c.532 others(67): Show c.532-45978_532-45931delTGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCCGGAGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975901	CAGGGAAA others(41): Show CAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp2 HG02056.hp2 others(2): Show HG00423.hp1 HG01081.hp2 HG02056.hp2 NA18963.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0001c0001t0001 a0001c0001t0002 a0002c0003t0002	a0001c0001t0001g0005 a0001c0001t0002g0087 a0001c0001t0002g0092 others(2): Show a0001c0001t0001g0005 a0001c0001t0002g0087 a0001c0001t0002g0092 a0002c0003t0002g0131 a0002c0003t0002g0145	5	150	0.0333	-48	c.532 others(67): Show c.532-46012_532-45965delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGATGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975925	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	150	0.0067	-48	c.532 others(67): Show c.532-46036_532-45989delGGGCCGGAGACGATGGCTTTCCCTAG GCTACAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975993	GGCCTAGG others(41): Show GGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0103 a0002c0003t0001g0103	1	150	0.0067	-48	c.532 others(67): Show c.532-46104_532-46057delTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976069	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03831.hp2 HG02165.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0059 a0001c0002t0001g0062 a0001c0001t0001g0059 a0001c0002t0001g0062	2	150	0.0133	-48	c.532 others(67): Show c.532-46180_532-46133delGGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976257	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	150	0.0067	-48	c.532 others(67): Show c.532-46368_532-46321delTAGAGACGATGGCTTTCCCTGGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976401	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0091 a0001c0014t0002g0091	1	150	0.0067	-48	c.532 others(67): Show c.532-46512_532-46465delCGGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976473	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0049 a0001c0011t0002g0049	1	150	0.0067	-48	c.532 others(67): Show c.532-46584_532-46537delTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976501	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0095 a0002c0003t0002g0095	1	150	0.0067	-48	c.532 others(67): Show c.532-46612_532-46565delAGGCTAGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976592	CAGCCCAG others(41): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	150	0.0067	-48	c.532 others(67): Show c.532-46703_532-46656delAGAGACGATGGCTTTCCCTGGGCCGG AGACGATGGCTTTCCCTGGGCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976713	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18963.hp2 HG02280.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0005 a0001c0009t0001g0002 a0001c0001t0001g0005 a0001c0009t0001g0002	2	150	0.0133	-48	c.532 others(67): Show c.532-46824_532-46777delCGGAGACGATGGCTTTCCCTGGGCTG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976736	CAGCCCAG others(41): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	150	0.0067	-48	c.532 others(67): Show c.532-46847_532-46800delAGAGACGATGGCTTTCCCTAGGCCGG AGACGATGGCTTTCCCTGGGCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976789	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0139 a0002c0004t0002g0139	1	150	0.0067	-48	c.532 others(67): Show c.532-46900_532-46853delAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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