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
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03225.hp1 others(1): Show HG01884.hp2 HG02572.hp1 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0008 a0001c0001t0002g0026	4	398	0.0101	23	c.-37 others(34): Show c.-3746_-3745insATCTATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258296	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	398	0.0050	23	c.-37 others(34): Show c.-3754_-3753insATCTATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3733		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	2	386	0.0052	23	c.299 others(42): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47830576	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0254 a0001c0002t0254	a0001c0002t0254g0016 a0001c0002t0254g0016	1	310	0.0032	23	c.11 others(36): Show c.11250_*11251insTTTTTTTTTTTTTTTTTTTTTTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	11250		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850374	T T	TATGTATT others(16): Show TATGTATTATACATATTATGTATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0255 a0001c0001t0255	a0001c0001t0255g0096 a0001c0001t0255g0096	1	310	0.0032	23	c.784 others(38): Show c.784+899_784+900insTATACATAATATGTATAATACAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850440	T T	TATAATAT others(16): Show TATAATATATATTATATATTATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19043.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0180 a0001c0001t0150 a0001c0001t0180	a0001c0001t0150g0066 a0001c0001t0180g0067 a0001c0001t0150g0066 a0001c0001t0180g0067	2	310	0.0065	23	c.784 others(38): Show c.784+811_784+833dupGTATAATATATAATATATATTAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp2 HG02258.hp2 others(2): Show HG00741.hp2 HG01256.hp2 HG02258.hp2 HG02486.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0077 a0001c0001t0106 others(2): Show a0001c0001t0015 a0001c0001t0077 a0001c0001t0106 a0001c0001t0131 a0001c0001t0132	a0001c0001t0015g0218 a0001c0001t0077g0253 a0001c0001t0106g0225 others(2): Show a0001c0001t0015g0218 a0001c0001t0077g0253 a0001c0001t0106g0225 a0001c0001t0131g0212 a0001c0001t0132g0211	5	310	0.0161	23	c.237 others(42): Show c.237-11500_237-11478dupAAAAAAAAAAAAAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0189 a0001c0001t0007g0189	1	310	0.0032	23	c.871 others(40): Show c.871+1579_871+1580insATATATATATATATATATATATT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183032	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02486.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0281 a0001c0001t0008g0053 a0001c0001t0007g0281 a0001c0001t0008g0053	2	310	0.0065	23	c.871 others(40): Show c.871+1579_871+1580insATATATATATATATATATATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8			chr15	TogoVar
SMAD4_chr18_51025213_51090042	51062851	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0283 a0001c0001t0011g0283	1	302	0.0033	23	c.956 others(40): Show c.956-2570_956-2548dupTTTTTTTTTTTTTTTTTTTTTTT	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136176457	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0038 a0001c0001t0012g0038	1	294	0.0034	23	c.125 others(40): Show c.1255-876_1255-854dupAAAAAAAAAAAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMARCB1_chr22_23781966_23843009	23834490	G G	GCAACAGG others(16): Show GCAACAGGTCATGTTCAATTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01346.hp1 HG01433.hp1 others(33): Show HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 others(7): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0048 a0001c0001t0049	a0001c0001t0009g0336 a0001c0001t0009g0337 a0001c0001t0009g0338 others(32): Show a0001c0001t0009g0336 a0001c0001t0009g0337 a0001c0001t0009g0338 a0001c0001t0009g0339 a0001c0001t0009g0340 a0001c0001t0009g0341 a0001c0001t0009g0342 a0001c0001t0009g0343 a0001c0001t0009g0346 a0001c0001t0009g0347 a0001c0001t0009g0349 a0001c0001t0009g0352 a0001c0001t0009g0353 a0001c0001t0013g0006 a0001c0001t0013g0320 a0001c0001t0013g0321 a0001c0001t0013g0322 a0001c0001t0013g0323 a0001c0001t0013g0324 a0001c0001t0013g0325 a0001c0001t0016g0007 a0001c0001t0016g0328 a0001c0001t0016g0329 a0001c0001t0018g0118 a0001c0001t0018g0119 a0001c0001t0018g0211 a0001c0001t0023g0063 a0001c0001t0023g0344 a0001c0001t0024g0345 a0001c0001t0024g0348 a0001c0001t0025g0350 a0001c0001t0025g0351 a0001c0001t0028g0335 a0001c0001t0048g0327 a0001c0001t0049g0326	36	363	0.0992	23	c.33 others(32): Show c.337_*359dupCAGGTCATGTTCAATTTCTTCAA	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	9/9	360	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	219	0.0046	23	c.184 others(40): Show c.1840-479_1840-457dupTTTTTTTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01192.hp1 others(18): Show HG00544.hp2 HG00735.hp2 HG01192.hp1 HG01934.hp1 HG01952.hp1 HG02080.hp1 HG02300.hp1 HG02622.hp2 HG03209.hp1 HG03831.hp2 HG03942.hp1 NA18943.hp1 NA18961.hp1 NA18967.hp1 NA18988.hp1 NA19005.hp1 NA19075.hp1 NA19079.hp1 NA19086.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 others(17): Show a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0134 a0001c0001t0004g0001 a0001c0001t0016g0143 a0001c0006t0001g0045	21	213	0.0986	23	c.242 others(40): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53402885	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	213	0.0047	23	c.242 others(40): Show c.2420+680_2420+681insCTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	213	0.0094	23	c.125 others(40): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01978.hp1 HG02273.hp1 others(2): Show HG01934.hp2 HG01978.hp1 HG02273.hp1 HG02523.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0131 a0001c0001t0002g0157 a0001c0001t0002g0002 a0001c0001t0002g0131 a0001c0001t0002g0157	5	328	0.0152	23	c.29 others(34): Show c.2990_*2991insAAAAAAAAAAAAAAAAAAAAAAA	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding		1245		chr10	TogoVar
SMG6_chr17_2054843_2308785	2114959	T T	TAAAATAA others(16): Show TAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp2 HG01943.hp1 others(16): Show HG01123.hp1 HG01167.hp2 HG01943.hp1 HG01952.hp2 HG02071.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 NA20805.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0024 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0005c0006t0004	a0002c0002t0001g0004 a0002c0002t0001g0036 a0002c0002t0001g0038 others(16): Show a0002c0002t0001g0004 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0108 a0002c0002t0002g0033 a0002c0002t0002g0037 a0002c0002t0002g0109 a0002c0002t0005g0074 a0002c0002t0024g0034 a0003c0003t0001g0157 a0004c0004t0001g0032 a0004c0004t0001g0051 a0004c0004t0001g0052 a0004c0004t0001g0092 a0004c0004t0002g0085 a0004c0004t0004g0093 a0005c0006t0004g0102	19	278	0.0684	23	c.335 others(44): Show c.3358-29059_3358-29058insTTTATTTTATTTTATTTTATTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01517.hp1 HG02622.hp2 others(1): Show HG01074.hp1 HG01517.hp1 HG02622.hp2 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0024	a0002c0002t0001g0127 a0002c0002t0002g0040 a0002c0002t0005g0035 others(1): Show a0002c0002t0001g0127 a0002c0002t0002g0040 a0002c0002t0005g0035 a0002c0002t0024g0034	4	278	0.0144	23	c.335 others(44): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0096 a0001c0002t0021g0096	1	320	0.0031	23	c.-7+ others(38): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM14_chr4_39541336_39643865	39576685	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18978.hp2 HG03927.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0331 a0001c0001t0002g0070 a0001c0001t0002g0331	2	344	0.0058	23	c.76- others(38): Show c.76-4223_76-4222insTATATATATATATATATATATAT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01169.hp2 others(9): Show HG01069.hp2 HG01071.hp1 HG01169.hp2 HG02895.hp2 NA18950.hp2 NA18952.hp2 NA18964.hp2 NA18965.hp1 NA18972.hp1 NA19002.hp2 NA19056.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0003g0092 others(9): Show a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0003g0092 a0001c0001t0004g0197 a0001c0001t0004g0220 a0001c0001t0004g0282 a0001c0001t0004g0285 a0001c0001t0004g0291 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0005g0327 a0001c0001t0012g0209	12	344	0.0349	23	c.76- others(40): Show c.76-12041_76-12019dupTTTTTTTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0206 a0001c0001t0010g0206	1	418	0.0024	23	c.34 others(34): Show c.3480_*3481insAAAAAAAAAAAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM42_chr1_158122287_158133301	158123971	G G	GTAATTAG others(16): Show GTAATTAGGGAACTTTGGAAAGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	406	0.0025	23	c.38 others(34): Show c.3890_*3891insAACTTTCCAAAGTTCCCTAATTA	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding		3315		chr1	TogoVar
SMOC1_chr14_69874416_70037366	69930167	A A	ACCCCTGA others(16): Show ACCCCTGACAGCACCCTTCCCACT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02818.hp2 HG02896.hp1 others(6): Show HG01074.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03516.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0001 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0008g0002 a0001c0001t0008g0057 a0001c0001t0009g0039	9	270	0.0333	23	c.100 others(42): Show c.100-21952_100-21930dupCCACTCCCCTGACAGCACCCTTC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69930186	C C	CCACTCCC others(16): Show CCACTCCCCTGACAGCACCCTTCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18956.hp2 NA18974.hp1 NA18950.hp2 NA18956.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0158 a0001c0002t0001g0137 a0001c0002t0002g0180 a0001c0001t0002g0158 a0001c0002t0001g0137 a0001c0002t0002g0180	3	270	0.0111	23	c.100 others(42): Show c.100-21948_100-21926dupTCCCCTGACAGCACCCTTCTCAC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69930190	T T	TCCCCTGA others(16): Show TCCCCTGACAGCACCCTTCTCACC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0094 a0001c0001t0022g0094	1	270	0.0037	23	c.100 others(42): Show c.100-21929_100-21907dupTCACCCCCCTGACAGCACCCTTC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168664384	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	180	0.0056	23	c.132 others(40): Show c.1323+283_1323+305dupTTTTTTTTTTTTTTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668830	T T	TCCCCCTC others(16): Show TCCCCCTCCCCCACACCTGCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0046 a0001c0002t0016g0046	1	180	0.0056	23	c.23 others(34): Show c.2392_*2393insCCCCCTCCCCCACACCTGCTGTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		839		chr6	TogoVar
SMOX_chr20_4143828_4192727	4148599	C C	CGGGAGGG others(16): Show CGGGAGGGGGGCCCCTGCTAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	428	0.0023	23	c.-40 others(32): Show c.-405_-404insGGGAGGGGGGCCCCTGCTAGGGA	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding		228		chr20	TogoVar
SMO_chr7_129183633_129218545	129193781	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0271 a0001c0008t0001g0271	1	410	0.0024	23	c.331 others(40): Show c.331+4299_331+4300insTATATATATATATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	410	0.0024	23	c.331 others(40): Show c.331+4303_331+4304insTATATATATATATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMR3B_chr4_70378131_70395244	70385398	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02630.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	2	462	0.0043	23	c.54+ others(36): Show c.54+835_54+857dupTTTTTTTTTTTTTTTTTTTTTTT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391020	C C	CACACACA others(16): Show CACACACACACACACATAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	462	0.0022	23	c.11 others(34): Show c.1172_*1173insACACACACACACACATAACACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		777		chr4	TogoVar
SMS_chrX_21935709_21999837	21988662	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	298	0.0034	23	c.945 others(40): Show c.945+3447_945+3469dupAAAAAAAAAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMURF1_chr7_99022440_99149108	99063238	T T	TATATATA others(16): Show TATATATATATATATATATATAAG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	264	0.0038	23	c.56- others(38): Show c.56-1402_56-1401insCTTATATATATATATATATATAT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99065962	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTATT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	264	0.0038	23	c.56- others(38): Show c.56-4126_56-4125insAATAAAAAAAAAAAAAAAAAAAA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01081.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0035 a0001c0001t0032 a0001c0001t0035	a0001c0001t0032g0109 a0001c0001t0035g0112 a0001c0001t0032g0109 a0001c0001t0035g0112	2	174	0.0115	23	c.101 others(42): Show c.1017-3618_1017-3596dupAAAAAAAAAAAAAAAAAAAAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64637923	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	174	0.0058	23	c.52+ others(40): Show c.52+23905_52+23906insTTTTTTTTTTTTTTTTTTTTTTT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245765077	C C	CACAAAAA others(16): Show CACAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02273.hp1 HG01081.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0092 a0001c0001t0002g0043 a0001c0001t0002g0092	2	150	0.0133	23	c.107 others(40): Show c.1077-929_1077-928insTTTTTTTTTTTTTTTTTTTTTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245765077	C C	CACACAAA others(16): Show CACACAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG02622.hp1 others(1): Show HG00733.hp2 HG00735.hp2 HG02622.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 others(1): Show a0001c0001 a0001c0006 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0006t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0004t0001 a0002c0007t0001	a0001c0001t0001g0021 a0001c0006t0001g0048 a0002c0004t0001g0127 others(1): Show a0001c0001t0001g0021 a0001c0006t0001g0048 a0002c0004t0001g0127 a0002c0007t0001g0124	4	150	0.0267	23	c.107 others(40): Show c.1077-929_1077-928insTTTTTTTTTTTTTTTTTTTGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SNAI1_chr20_49977980_49993886	49991714	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	440	0.0023	23	c.36 others(34): Show c.3658_*3659insAAAAAAAAAAAAAAAAAAAAAAA	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		2829		chr20	TogoVar
SNAI3_chr16_88672688_88691507	88682762	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00621.hp2 others(24): Show HG00408.hp2 HG00609.hp1 HG00621.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp1 HG01256.hp2 HG01516.hp2 HG02300.hp1 HG02738.hp2 HG03492.hp1 NA18939.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18965.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18989.hp1 NA18997.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19065.hp2 NA19081.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 others(11): Show a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0244	27	400	0.0675	23	c.77- others(38): Show c.77-1071_77-1049dupAAAAAAAAAAAAAAAAAAAAAAA	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	1/2			chr16	TogoVar
SNAP25_chr20_10213830_10312418	10301858	C C	CTATATAT others(16): Show CTATATATATTATATAATATATAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	340	0.0029	23	c.552 others(40): Show c.552+2461_552+2483dupAATATATAATATATATATTATAT	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAPC1_chr14_61757420_61801428	61797175	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	356	0.0028	23	c.21 others(34): Show c.2192_*2193insTTTTTTTTTTTTTTTTTTTTTTT	SNAPC1	ENSG00000023608.5	transcript	ENST00000216294.5	protein_coding		748		chr14	TogoVar
SNCAIP_chr5_122307237_122469219	122330117	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	222	0.0045	23	c.-47 others(42): Show c.-47+17855_-47+17856insTTTTTTTTTTTTTTTTTTTTTTT	SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SND1_chr7_127647194_128097593	127922199	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	262	0.0038	23	c.152 others(42): Show c.1528-6985_1528-6984insTTTTTTTTTTTTTGTTTTGTTTT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	241024235	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0044 a0002c0010t0044	a0002c0010t0044g0078 a0002c0010t0044g0078	1	344	0.0029	23	c.214 others(40): Show c.214-6042_214-6020dupTTTTTTTTTTTTTTTTTTTTTTT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNRK_chr3_43281540_43356143	43322951	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG02572.hp2 others(7): Show HG01081.hp2 HG01891.hp2 HG02572.hp2 HG02895.hp2 HG02897.hp1 HG03579.hp2 NA18942.hp2 NA18954.hp2 NA18967.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0178 others(6): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0002t0004g0011 a0001c0002t0004g0231 a0001c0002t0004g0233 a0001c0002t0004g0234	10	258	0.0388	23	c.590 others(40): Show c.590-9203_590-9202insAAAAAAAAAAAAAAAAAAAAAAA	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRPD3_chr22_24550999_24579971	24561064	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp2 HG03195.hp2 others(1): Show HG01975.hp2 HG01978.hp2 HG03195.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0211 a0001c0002t0002g0247 a0001c0002t0002g0260 others(1): Show a0001c0002t0002g0211 a0001c0002t0002g0247 a0001c0002t0002g0260 a0001c0002t0002g0276	4	400	0.0100	23	c.126 others(40): Show c.126+3267_126+3289dupTTTTTTTTTTTTTTTTTTTTTTT	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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