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
RWDD4_chr4_183634635_183664185	183646386	G G	GAATTCCA others(24): Show GAATTCCAAAGGTTGTGAAGGGGAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	480	0.0021	31	c.532 others(44): Show c.532-64_532-34dupTTTTGTTTTCCCCTTCACAACCTTTGGAATT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	6/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	210	0.0048	31	c.49+ others(48): Show c.49+20085_49+20086insATATATATATATATATATATATATATAT TTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31746767	T T	TATTATAT others(24): Show TATTATATACAGCAATATATATAATATACAGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00609.hp1 others(131): Show HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0002c0003 a0003c0005 a0006c0010 a0007c0008 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0001 a0001c0013t0002 a0002c0003t0003 a0003c0005t0002 a0006c0010t0001 a0007c0008t0001 a0008c0007t0003	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(131): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0246 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0367 a0001c0001t0001g0372 a0001c0001t0002g0004 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0034 a0001c0002t0002g0055 a0001c0002t0002g0119 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0375 a0001c0004t0001g0020 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0082 a0001c0004t0001g0084 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0138 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0013t0002g0012 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0029 a0002c0003t0003g0037 a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0050 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0058 a0002c0003t0003g0059 a0002c0003t0003g0060 a0002c0003t0003g0062 a0002c0003t0003g0063 a0002c0003t0003g0064 a0002c0003t0003g0065 a0002c0003t0003g0066 a0002c0003t0003g0067 a0002c0003t0003g0068 a0002c0003t0003g0069 a0002c0003t0003g0070 a0002c0003t0003g0071 a0002c0003t0003g0072 a0002c0003t0003g0073 a0002c0003t0003g0074 a0002c0003t0003g0075 a0002c0003t0003g0083 a0002c0003t0003g0085 a0002c0003t0003g0089 a0002c0003t0003g0090 a0002c0003t0003g0091 a0002c0003t0003g0094 a0002c0003t0003g0102 a0002c0003t0003g0104 a0002c0003t0003g0133 a0002c0003t0003g0233 a0002c0003t0003g0234 a0002c0003t0003g0287 a0002c0003t0003g0370 a0002c0003t0003g0371 a0002c0003t0003g0374 a0003c0005t0002g0105 a0003c0005t0002g0241 a0003c0005t0002g0242 a0006c0010t0001g0047 a0007c0008t0001g0081 a0008c0007t0003g0061	134	386	0.3472	31	c.94+ others(46): Show c.94+7062_94+7063insTTATATACAGCAATATATATAATATACAGC A	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31759446	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	386	0.0026	31	c.241 others(48): Show c.241+1042_241+1043insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17			chr13	TogoVar
RXFP2_chr13_31734526_31808389	31776102	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	386	0.0026	31	c.641 others(46): Show c.641+715_641+716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0009 a0009	a0009c0063 a0009c0063	a0009c0063t0001 a0009c0063t0001	a0009c0063t0001g0126 a0009c0063t0001g0126	1	154	0.0065	31	c.983 others(50): Show c.9830+1201_9830+1202insATATATATATATATATATATTTTTTT TTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02071.hp1 NA18956.hp2 others(2): Show HG00140.hp1 HG02071.hp1 NA18956.hp2 NA19057.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0002t0001g0122 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0002t0001g0122	5	452	0.0111	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp2 HG01070.hp1 others(38): Show HG00597.hp2 HG00738.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01361.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02148.hp1 HG02280.hp1 HG02572.hp2 HG02809.hp1 HG03130.hp1 HG03209.hp2 HG03492.hp1 HG03516.hp1 HG03927.hp2 HG04204.hp1 HG06807.hp1 NA18952.hp1 NA18954.hp1 NA18961.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp1 NA18980.hp2 NA18990.hp1 NA19000.hp1 NA19060.hp2 NA19067.hp1 NA19068.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0046 a0001c0001t0001g0111 a0001c0001t0001g0185 a0001c0001t0006g0094 a0001c0002t0001g0093 a0001c0002t0001g0123 a0001c0002t0002g0013 a0001c0002t0002g0060 a0001c0002t0002g0175 a0001c0002t0003g0209	41	452	0.0907	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGAGGGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	452	0.0022	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGGAGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	452	0.0022	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCTCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGGAGGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18993.hp2 NA18949.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	2	452	0.0044	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCCTCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(24): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	452	0.0022	31	c.-1- others(44): Show c.-1-983_-1-982insCCCCCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(24): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGGGTG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	452	0.0022	31	c.-1- others(44): Show c.-1-983_-1-982insCACCCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(24): Show TGGGGGGAGGGGGGGGGCGGGGGGGGGGGGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18987.hp2 HG02738.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0149 a0001c0002t0002g0075 a0001c0001t0001g0149 a0001c0002t0002g0075	2	452	0.0044	31	c.-1- others(44): Show c.-1-983_-1-982insCACCCCCCCCCCCCGCCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S1PR4_chr19_3173769_3185332	3176850	A A	AAGGCTGA others(24): Show AAGGCTGAGCCTCCCTCCTCAGACCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	31	c.-19 others(42): Show c.-1943_-1942insAGGCTGAGCCTCCCTCCTCAGACCCCAGGGC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1918		chr19	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAAAG others(24): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0110 a0003c0003t0001g0110	1	284	0.0035	31	c.37 others(42): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0066 a0004c0004t0001g0066	1	284	0.0035	31	c.37 others(42): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	354	0.0028	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATATATATATATTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19054.hp2 NA19009.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0138 a0001c0002t0005g0158 a0001c0002t0002g0138 a0001c0002t0005g0158	2	354	0.0057	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0154	1	354	0.0028	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18985.hp1 HG02165.hp2 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0147 a0001c0002t0003g0172 a0001c0002t0003g0147 a0001c0002t0003g0172	2	354	0.0057	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATATTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	354	0.0028	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATTTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0052 a0002c0001t0001g0052	1	354	0.0028	31	c.-28 others(42): Show c.-2803_-2802insTATATATTTTTTTTTTTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAE1_chr19_47125835_47215636	47215519	T T	TGAAGGTG others(24): Show TGAAGGTGAGCATCATGCTGTATCCTGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	380	0.0026	31	c.62 others(42): Show c.6268_*6269insGAAGGTGAGCATCATGCTGTATCCTGGAAGC	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding		4884		chr19	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03927.hp2 HG00639.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0264 a0001c0001t0004g0259 a0001c0001t0004g0264	2	360	0.0056	31	c.995 others(46): Show c.995-649_995-648insAAAAAAAAAAAAAAATATATATATATATAT A	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668559	C C	CCCTCATC others(24): Show CCCTCATCCTCCCTCTCCCTCACCTTCCCTCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	262	0.0038	31	c.249 others(50): Show c.2496-1690_2496-1689insAGAGGGAAGGTGAGGGAGAGGGAGGA TGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SAT1_chrX_23778173_23791210	23780474	A A	ATATATAT others(24): Show ATATATATATATATATATAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA19062.hp1 HG00438.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	330	0.0061	31	c.-28 others(42): Show c.-2878_-2877insTATATATATATATATATAATATATATATATT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2698		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780476	A A	ATATATAT others(24): Show ATATATATATATATATATAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18985.hp1 NA18956.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	330	0.0061	31	c.-28 others(42): Show c.-2876_-2875insTATATATATATATATATAATATATATATATT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2696		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780490	T T	TATAATAT others(24): Show TATAATATATATATATTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 NA18948.hp1 HG03669.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	330	0.0061	31	c.-28 others(42): Show c.-2862_-2861insATAATATATATATATTATATATATATATATA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2682		chrX	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0164 a0001c0003t0002g0164	1	224	0.0045	31	c.56- others(46): Show c.56-2880_56-2879insAAAAAAAAAAAAATATATATATATATATAT A	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10211014	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03831.hp2 HG02683.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0220 a0001c0001t0004g0218 a0001c0001t0002g0220 a0001c0001t0004g0218	2	224	0.0089	31	c.56- others(48): Show c.56-17028_56-17027insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK3_chr19_55535656_55550543	55543196	T T	TCCATCCA others(24): Show TCCATCCATCCACCATCCATCCATCCACCCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp2 HG02683.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	2	438	0.0046	31	c.399 others(46): Show c.399+873_399+903dupGTGGGTGGATGGATGGATGGTGGATGGATG G	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding	3/3			chr19	TogoVar
SBK3_chr19_55535656_55550543	55549930	A A	AGCTGAGC others(24): Show AGCTGAGCTCCTCCACTGGAGACCCGGGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00609.hp1 others(76): Show HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03516.hp2 HG03704.hp2 HG03834.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0002t0001g0002 a0002c0003t0001g0004 a0003c0004t0001g0013 a0003c0004t0001g0058 a0004c0007t0001g0021	79	438	0.1804	31	c.-43 others(42): Show c.-4388_-4387insCAGCCCCGGGTCTCCAGTGGAGGAGCTCAGC	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		4388		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(24): Show CACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	382	0.0026	31	c.16 others(42): Show c.1629_*1630insACACACACACACACACACACACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	306	0.0033	31	c.98+ others(48): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTTTTTTTTTT TTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0257 a0002c0002t0014g0257	1	306	0.0033	31	c.98+ others(48): Show c.98+36510_98+36511insATATATATTTTTTTTTTTTTTTTTTTTT TTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	306	0.0033	31	c.98+ others(48): Show c.98+36510_98+36511insATATATATATTTTTTTTTTTTTTTTTTT TTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78398355	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0161 a0001c0001t0029g0161	1	332	0.0030	31	c.135 others(48): Show c.135+9468_135+9469insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460796	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	332	0.0030	31	c.852 others(48): Show c.852+1434_852+1435insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460800	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18986.hp1 NA18992.hp1 HG03453.hp2 NA18986.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0278 a0001c0001t0003g0308 a0001c0001t0011g0156 a0001c0001t0003g0278 a0001c0001t0003g0308 a0001c0001t0011g0156	3	332	0.0090	31	c.852 others(48): Show c.852+1438_852+1439insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	332	0.0030	31	c.852 others(48): Show c.852+1442_852+1443insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460812	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0327 a0001c0001t0003g0327	1	332	0.0030	31	c.852 others(48): Show c.852+1450_852+1451insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460816	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02273.hp1 HG00673.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0322 a0001c0001t0003g0294 a0001c0001t0003g0322	2	332	0.0060	31	c.852 others(48): Show c.852+1454_852+1455insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAPER_chr15_76342904_76910340	76667650	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0191 a0003c0003t0002g0191	1	312	0.0032	31	c.250 others(50): Show c.2509-1862_2509-1861insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02293.hp1 HG02071.hp1 HG02293.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0299 a0002c0001t0001g0313 a0002c0001t0001g0299 a0002c0001t0001g0313	2	356	0.0056	31	c.169 others(48): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	100	0.0100	31	c.64- others(48): Show c.64-96047_64-96046insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159680713	A A	AATATATG others(24): Show AATATATGTATATTATATAATATACATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp2 HG01243.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0087 a0001c0004t0001g0018 a0001c0001t0001g0087 a0001c0004t0001g0018	2	100	0.0200	31	c.64- others(48): Show c.64-83718_64-83717insTATATAATATACATATATTATATATGTA TAT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159681774	T T	TTTAACTC others(24): Show TTTAACTCAACGTTAACTTAGGTTAACTTGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19058.hp2 HG01106.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0062 a0001c0001t0001g0067	2	100	0.0200	31	c.64- others(48): Show c.64-82538_64-82508dupCAACGTTAACTTAGGTTAACTTGGGTTA ACT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5213008	C C	CTTTGAGG others(24): Show CTTTGAGGTGGTAACTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00621.hp2 others(31): Show HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02572.hp2 HG02602.hp2 HG02723.hp2 HG02976.hp1 HG03239.hp1 HG03669.hp2 HG03942.hp1 NA18612.hp2 NA18939.hp2 NA18955.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp2 NA18987.hp1 NA19003.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003	a0001c0001t0003g0195 a0001c0002t0003g0011 a0001c0002t0003g0017 others(29): Show a0001c0001t0003g0195 a0001c0002t0003g0011 a0001c0002t0003g0017 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0085 a0001c0002t0003g0127 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0164 a0001c0002t0003g0171 a0001c0002t0003g0235 a0001c0002t0003g0298 a0001c0002t0003g0323 a0001c0002t0004g0087 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0170 a0001c0003t0003g0131	34	386	0.0881	31	c.283 others(48): Show c.283+1916_283+1917insAAAAAAAAAAAAAAGAAGTTACCACCTC AAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	4/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0255 a0001c0001t0255	a0001c0001t0255g0023 a0001c0001t0255g0023	1	372	0.0027	31	c.354 others(46): Show c.354+706_354+707insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT T	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar

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