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
RYR3_chr15_33305967_33871102	33860725	A A	AAACAATA others(35): Show AAACAATAGGTTTTACTATTACTTAGGGCCAGTACTAAGCAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp1 NA19030.hp1 NA21309.hp1	a0005 a0007 a0005 a0007	a0005c0040 a0007c0072 a0005c0040 a0007c0072	a0005c0040t0013 a0007c0072t0004 a0005c0040t0013 a0007c0072t0004	a0005c0040t0013g0145 a0007c0072t0004g0045 a0005c0040t0013g0145 a0007c0072t0004g0045	2	154	0.0130	42	c.143 others(60): Show c.14364+70_14364+111dupAATAGGTTTTACTATTACTTAGGGCCA GTACTAAGCAAGAAC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	101/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0136 a0001c0001t0006g0136	1	414	0.0024	42	c.-20 others(51): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(35): Show GTGCGCACGCACACACACACATACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0278 a0001c0023t0007g0278	1	322	0.0031	42	c.157 others(61): Show c.157-21366_157-21365insTGCGCACGCACACACACACATACACA CACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0060 a0003c0006t0001g0060	1	322	0.0031	42	c.386 others(59): Show c.386+8686_386+8687insTTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(35): Show ATATATATATTATATATAATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	330	0.0030	42	c.-28 others(53): Show c.-2850_-2849insTATATATATTATATATAATATATATATAATATAT ATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(35): Show ATATATATATTATATATAATATATATATATAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	330	0.0030	42	c.-28 others(53): Show c.-2850_-2849insTATATATATTATATATAATATATATATATAATAT ATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(35): Show ATATATATTATATATAATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG01517.hp1 HG00099.hp2 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	330	0.0091	42	c.-28 others(53): Show c.-2850_-2849insTATATATTATATATAATATATATATATAATATAT ATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SATB2_chr2_199264505_199462939	199433925	C C	CGTAAAAG others(35): Show CGTAAAAGTAATATATTTCTCTTTAAATATATTACTTTTACGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	254	0.0039	42	c.170 others(57): Show c.170-453_170-412dupACGTAAAAGTAATATATTTAAAGAGAAATA TATTACTTTTAC	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	2/10			chr2	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01168.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG01168.hp1 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0002 a0001c0003t0004	a0001c0003t0002g0019 a0001c0003t0004g0155 a0001c0003t0004g0157 others(1): Show a0001c0003t0002g0019 a0001c0003t0004g0155 a0001c0003t0004g0157 a0001c0003t0004g0158	4	224	0.0179	42	c.139 others(59): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	224	0.0045	42	c.56- others(57): Show c.56-2880_56-2879insAAAAAAAAAAAATATATATATATATATATA TATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0217 a0005c0006t0004g0217	1	224	0.0045	42	c.56- others(57): Show c.56-2880_56-2879insAAAAAAAAAAAAAATATATATATATATATA TATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO2_chr19_1102638_1179268	1164601	G G	GACAGGAG others(35): Show GACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0183 a0001c0013t0001g0183	1	203	0.0049	42	c.-12 others(61): Show c.-127+9570_-127+9571insTCCTCCTCCTCCTTCTCCTCCTCTTC CTCCTCCTCCTCCTGT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1165678	A A	ACCCAGAT others(35): Show ACCCAGATCCCAGACCCCAGATCGCAGATCTCAGACCCCAGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(48): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02647.hp2 HG02683.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG04115.hp2 HG04228.hp2 NA18945.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA19080.hp2 NA19088.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0004	a0000c0009 a0000c0042 a0001c0001 others(12): Show a0000c0009 a0000c0042 a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0034 a0001c0036 a0001c0037 a0001c0040 a0002c0003 a0002c0008 a0003c0012 a0004c0039	a0000c0009t0001 a0000c0009t0003 a0000c0042t0001 others(14): Show a0000c0009t0001 a0000c0009t0003 a0000c0042t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0009 a0001c0007t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0040t0001 a0002c0003t0001 a0002c0008t0001 a0003c0012t0002 a0004c0039t0001	a0000c0009t0001g0168 a0000c0009t0001g0169 a0000c0009t0001g0172 others(48): Show a0000c0009t0001g0168 a0000c0009t0001g0169 a0000c0009t0001g0172 a0000c0009t0003g0171 a0000c0042t0001g0124 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0005t0001g0135 a0001c0005t0001g0160 a0001c0006t0001g0013 a0001c0006t0009g0012 a0001c0007t0001g0150 a0001c0034t0001g0148 a0001c0036t0001g0138 a0001c0037t0001g0202 a0001c0040t0001g0139 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0161 a0002c0008t0001g0136 a0003c0012t0002g0178 a0004c0039t0001g0137	51	203	0.2512	42	c.-12 others(61): Show c.-127+8493_-127+8494insATCTGGGGTCTGAGATCTGCGATCTG GGGTCTGGGATCTGGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG02257.hp2 others(6): Show HG00323.hp2 HG00673.hp1 HG02257.hp2 NA18968.hp1 NA18985.hp2 NA18993.hp1 NA19011.hp2 NA19012.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0019 others(2): Show a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0019 a0001c0003t0001g0082 a0002c0001t0001g0001	9	450	0.0200	42	c.31 others(53): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0067 a0002c0033t0001g0067	1	450	0.0022	42	c.31 others(53): Show c.3153_*3154insTATATATATATATATATATATATATATATATAGA GAGAGAGA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSN_chr19_35518367_35533311	35520369	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0090	1	450	0.0022	42	c.31 others(53): Show c.3140_*3141insGTATATATATATATATATATATATATATATATAT ATATATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2997		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0185 a0002c0002t0036g0185	1	414	0.0024	42	c.678 others(57): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(35): Show TACACACACACACATATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02148.hp1 HG02280.hp1 others(2): Show HG01943.hp1 HG02148.hp1 HG02280.hp1 NA19062.hp1 NA20300.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0003c0004 a0008c0013 a0001c0002 a0003c0004 a0008c0013	a0001c0002t0002 a0003c0004t0002 a0008c0013t0002 a0001c0002t0002 a0003c0004t0002 a0008c0013t0002	a0001c0002t0002g0058 a0001c0002t0002g0062 a0003c0004t0002g0006 others(2): Show a0001c0002t0002g0058 a0001c0002t0002g0062 a0003c0004t0002g0006 a0003c0004t0002g0011 a0008c0013t0002g0011	5	382	0.0131	42	c.15 others(53): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	306	0.0033	42	c.98+ others(59): Show c.98+36510_98+36511insATATATATATATATATATATATATATTT TTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460822	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	332	0.0030	42	c.852 others(59): Show c.852+1461_852+1462insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78485278	G G	GTGAAAAT others(35): Show GTGAAAATACATATGCACAGGAACCAAATCAATGCTAGACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0213 a0001c0001t0037g0213	1	332	0.0030	42	c.96 others(53): Show c.9610_*9611insTGAAAATACATATGCACAGGAACCAAATCAATGC TAGACAAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding		4540		chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	370	0.0027	42	c.-47 others(53): Show c.-4728_-4727insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(35): Show GGTGAGAGGGGGCGGGGGAGAAGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	304	0.0033	42	c.244 others(57): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACTTCTCCCCC GCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGGG others(35): Show GGTGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04204.hp1 HG04115.hp2 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0087 a0002c0002t0001g0088	2	304	0.0066	42	c.244 others(57): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCTCCC CCGCCCCCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCARA5_chr8_27864883_27997673	27918941	G G	GGGAAGGG others(35): Show GGGAAGGGAGGAGGGAAGGAGGAGGAGGGGAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0018 a0002c0006t0018	a0002c0006t0018g0223 a0002c0006t0018g0223	1	314	0.0032	42	c.916 others(59): Show c.916+2629_916+2630insTCCTCCTCCTCCTCCCCTCCTCCTCCTT CCCTCCTCCCTTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918942	G G	GGAAGGAG others(35): Show GGAAGGAGGAGGGGAAGGAGGAGGAAGGGAAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01257.hp1 others(11): Show HG01109.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01981.hp1 HG02451.hp1 HG02559.hp2 HG02818.hp1 HG03209.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 others(1): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008	a0001c0002t0001 a0001c0002t0005 a0001c0002t0022 others(7): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0022 a0001c0002t0048 a0001c0004t0011 a0001c0007t0002 a0001c0007t0012 a0001c0007t0013 a0001c0007t0050 a0001c0008t0027	a0001c0002t0001g0195 a0001c0002t0005g0184 a0001c0002t0005g0211 others(11): Show a0001c0002t0001g0195 a0001c0002t0005g0184 a0001c0002t0005g0211 a0001c0002t0005g0212 a0001c0002t0022g0004 a0001c0002t0022g0005 a0001c0002t0022g0006 a0001c0002t0048g0099 a0001c0004t0011g0249 a0001c0007t0002g0097 a0001c0007t0012g0269 a0001c0007t0013g0251 a0001c0007t0050g0002 a0001c0008t0027g0165	14	314	0.0446	42	c.916 others(59): Show c.916+2628_916+2629insTCCTCCTCCTCCTTCCCTTCCTCCTCCT TCCCCTCCTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918942	G G	GGAAGGAG others(35): Show GGAAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(112): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18968.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0012	a0001c0002 a0001c0004 a0001c0007 others(13): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0006 a0002c0010 a0002c0015 a0002c0016 a0002c0021 a0003c0014 a0005c0019 a0005c0029 a0007c0031 a0008c0020 a0009c0030 a0012c0032	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(51): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0021 a0001c0002t0024 a0001c0002t0051 a0001c0002t0056 a0001c0002t0065 a0001c0004t0003 a0001c0004t0006 a0001c0004t0011 a0001c0004t0016 a0001c0004t0017 a0001c0004t0052 a0001c0004t0053 a0001c0004t0054 a0001c0007t0002 a0001c0007t0004 a0001c0007t0005 a0001c0007t0014 a0001c0007t0023 a0001c0007t0026 a0001c0007t0033 a0001c0008t0001 a0001c0008t0004 a0001c0008t0008 a0001c0008t0010 a0001c0008t0027 a0001c0008t0046 a0001c0008t0057 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0002c0006t0007 a0002c0006t0009 a0002c0006t0018 a0002c0006t0023 a0002c0010t0003 a0002c0010t0006 a0002c0010t0016 a0002c0015t0036 a0002c0016t0009 a0002c0016t0021 a0002c0021t0019 a0003c0014t0031 a0003c0014t0062 a0005c0019t0001 a0005c0019t0025 a0005c0029t0033 a0007c0031t0006 a0008c0020t0001 a0009c0030t0006 a0012c0032t0004	a0001c0002t0001g0144 a0001c0002t0001g0152 a0001c0002t0001g0154 others(112): Show a0001c0002t0001g0144 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0188 a0001c0002t0001g0196 a0001c0002t0001g0210 a0001c0002t0001g0220 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0002g0020 a0001c0002t0002g0026 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0075 a0001c0002t0002g0101 a0001c0002t0002g0110 a0001c0002t0005g0202 a0001c0002t0005g0204 a0001c0002t0005g0206 a0001c0002t0005g0216 a0001c0002t0005g0272 a0001c0002t0005g0300 a0001c0002t0007g0046 a0001c0002t0007g0088 a0001c0002t0007g0089 a0001c0002t0021g0067 a0001c0002t0024g0120 a0001c0002t0051g0113 a0001c0002t0056g0283 a0001c0002t0065g0313 a0001c0004t0003g0161 a0001c0004t0003g0219 a0001c0004t0006g0031 a0001c0004t0006g0043 a0001c0004t0006g0045 a0001c0004t0006g0060 a0001c0004t0011g0175 a0001c0004t0016g0062 a0001c0004t0016g0098 a0001c0004t0017g0279 a0001c0004t0052g0277 a0001c0004t0053g0264 a0001c0004t0054g0233 a0001c0007t0002g0019 a0001c0007t0004g0121 a0001c0007t0005g0126 a0001c0007t0014g0136 a0001c0007t0023g0261 a0001c0007t0026g0205 a0001c0007t0033g0164 a0001c0008t0001g0197 a0001c0008t0004g0180 a0001c0008t0004g0181 a0001c0008t0004g0228 a0001c0008t0004g0270 a0001c0008t0004g0289 a0001c0008t0004g0302 a0001c0008t0008g0286 a0001c0008t0008g0291 a0001c0008t0010g0053 a0001c0008t0027g0248 a0001c0008t0027g0290 a0001c0008t0046g0095 a0001c0008t0057g0115 a0002c0006t0001g0153 a0002c0006t0001g0237 a0002c0006t0001g0271 a0002c0006t0001g0284 a0002c0006t0001g0299 a0002c0006t0002g0079 a0002c0006t0002g0103 a0002c0006t0005g0173 a0002c0006t0005g0200 a0002c0006t0005g0224 a0002c0006t0007g0083 a0002c0006t0009g0052 a0002c0006t0018g0222 a0002c0006t0018g0236 a0002c0006t0023g0123 a0002c0010t0003g0149 a0002c0010t0003g0166 a0002c0010t0003g0177 a0002c0010t0003g0187 a0002c0010t0003g0198 a0002c0010t0003g0199 a0002c0010t0003g0209 a0002c0010t0003g0273 a0002c0010t0003g0282 a0002c0010t0006g0024 a0002c0010t0006g0068 a0002c0010t0006g0076 a0002c0010t0016g0035 a0002c0015t0036g0022 a0002c0016t0009g0066 a0002c0016t0009g0092 a0002c0016t0021g0050 a0002c0021t0019g0037 a0003c0014t0031g0018 a0003c0014t0031g0021 a0003c0014t0062g0307 a0005c0019t0001g0190 a0005c0019t0025g0191 a0005c0019t0025g0192 a0005c0029t0033g0127 a0007c0031t0006g0065 a0008c0020t0001g0304 a0009c0030t0006g0039 a0012c0032t0004g0278	115	314	0.3662	42	c.916 others(59): Show c.916+2628_916+2629insTCCTCCTCCTCCTTCCCCTCCTCCTCCT TCCCCTCCTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19006.hp2 HG04199.hp1 NA19006.hp2	a0003 a0003	a0003c0007 a0003c0024 a0003c0007 a0003c0024	a0003c0007t0003 a0003c0024t0003 a0003c0007t0003 a0003c0024t0003	a0003c0007t0003g0111 a0003c0024t0003g0136 a0003c0007t0003g0111 a0003c0024t0003g0136	2	434	0.0046	42	c.196 others(59): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATATATTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82626114	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00673.hp1 others(97): Show HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19077.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0002t0008 a0001c0004t0031 a0002c0003t0021 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 others(97): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0006g0002 a0001c0001t0006g0005 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0008g0195 a0001c0001t0008g0197 a0001c0001t0008g0204 a0001c0001t0010g0199 a0001c0001t0014g0025 a0001c0001t0014g0091 a0001c0001t0025g0037 a0001c0001t0026g0084 a0001c0001t0030g0203 a0001c0002t0008g0208 a0001c0004t0031g0202 a0002c0003t0021g0190 a0003c0005t0001g0137	100	210	0.4762	42	c.52 others(53): Show c.5212_*5213insTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3424		chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0279 a0003c0005t0002g0279	1	356	0.0028	42	c.169 others(59): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18963.hp1 HG01261.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0056 a0001c0005t0001g0024 a0001c0001t0001g0056 a0001c0005t0001g0024	2	162	0.0124	42	c.156 others(61): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704248	T T	TATATATA others(35): Show TATATATATATATATATATATGTGTGTATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	402	0.0025	42	c.120 others(61): Show c.1207+3024_1207+3025insGTGTGTATACATACATACATACATAT ATATATATATATATAT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	402	0.0025	42	c.120 others(61): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03654.hp1 HG02970.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0179 a0001c0001t0002g0026 a0001c0001t0001g0179 a0001c0001t0002g0026	2	415	0.0048	42	c.226 others(61): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01928.hp2 others(9): Show HG00735.hp1 HG00738.hp2 HG01928.hp2 HG02698.hp1 HG02809.hp1 HG03654.hp2 NA18963.hp1 NA18968.hp1 NA18971.hp1 NA18999.hp1 NA19058.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0084 others(9): Show a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0053	12	415	0.0289	42	c.226 others(61): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01496.hp1 HG01515.hp1 HG00323.hp2 HG01496.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0112 a0001c0001t0001g0391 a0001c0001t0001g0091 a0001c0001t0001g0112 a0001c0001t0001g0391	3	415	0.0072	42	c.226 others(61): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2A2_chr11_62265158_62278160	62277880	C C	CTCCCCCT others(35): Show CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03041.hp1 HG02897.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0026 a0001c0001t0001g0027	2	390	0.0051	42	c.48 others(53): Show c.4885_*4886insTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCTCCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4721		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277883	C C	CCCCTCCC others(35): Show CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02886.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	390	0.0051	42	c.48 others(53): Show c.4888_*4889insCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4724		chr11	TogoVar
SCIMP_chr17_5203920_5239860	5213008	C C	CTTTGAGG others(35): Show CTTTGAGGTGGTAACTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00738.hp2 others(58): Show HG00438.hp2 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01192.hp2 HG01358.hp1 HG01975.hp1 HG02055.hp1 HG02083.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18941.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18967.hp1 NA18975.hp1 NA18980.hp1 NA18983.hp2 NA18988.hp2 NA19054.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0003t0005 a0001c0003t0015 a0001c0003t0021 a0001c0003t0022	a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0001g0113 others(52): Show a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0004g0290 a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0012g0024 a0001c0002t0001g0016 a0001c0002t0001g0121 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0152 a0001c0002t0001g0305 a0001c0003t0005g0006 a0001c0003t0005g0027 a0001c0003t0005g0029 a0001c0003t0005g0035 a0001c0003t0005g0120 a0001c0003t0005g0151 a0001c0003t0005g0166 a0001c0003t0005g0238 a0001c0003t0005g0307 a0001c0003t0005g0310 a0001c0003t0005g0311 a0001c0003t0005g0312 a0001c0003t0005g0313 a0001c0003t0005g0314 a0001c0003t0005g0318 a0001c0003t0005g0319 a0001c0003t0005g0321 a0001c0003t0005g0322 a0001c0003t0005g0328 a0001c0003t0005g0330 a0001c0003t0005g0337 a0001c0003t0005g0338 a0001c0003t0005g0340 a0001c0003t0015g0315 a0001c0003t0015g0316 a0001c0003t0021g0339 a0001c0003t0022g0215	61	386	0.1580	42	c.283 others(59): Show c.283+1916_283+1917insAAAAAAAAAAAAAAAAAAAAAAAAAGAA GTTACCACCTCAAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	4/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(35): Show ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(70): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG01109.hp1 HG01255.hp1 HG01257.hp2 HG01891.hp2 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18967.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp1 NA19077.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0003t0005 a0001c0003t0022	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0101 others(65): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0254 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0304 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0146 a0001c0001t0004g0217 a0001c0001t0004g0341 a0001c0001t0006g0114 a0001c0001t0010g0139 a0001c0001t0010g0140 a0001c0001t0010g0141 a0001c0001t0019g0234 a0001c0002t0001g0016 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0305 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0003g0147 a0001c0002t0003g0235 a0001c0002t0003g0323 a0001c0002t0006g0137 a0001c0002t0007g0263 a0001c0003t0005g0006 a0001c0003t0005g0035 a0001c0003t0005g0319 a0001c0003t0005g0320 a0001c0003t0005g0321 a0001c0003t0005g0322 a0001c0003t0022g0215	73	386	0.1891	42	c.21+ others(57): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(35): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18943.hp1 NA18970.hp2 HG03831.hp2 NA18943.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0082 a0001c0001t0227 a0001c0001t0002 a0001c0001t0082 a0001c0001t0227	a0001c0001t0002g0036 a0001c0001t0082g0035 a0001c0001t0227g0034 a0001c0001t0002g0036 a0001c0001t0082g0035 a0001c0001t0227g0034	3	372	0.0081	42	c.354 others(57): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLY_chr2_238056001_238104413	238098559	G G	GCATAGGA others(35): Show GCATAGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0155 a0003c0006t0155	a0003c0006t0155g0301 a0003c0006t0155g0301	1	392	0.0026	42	c.21 others(51): Show c.212_*213insCGCCCACATGGGAACGCCCACATGGGAACGCCCACA TAGGAC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	213	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098563	A A	AGGACCGC others(35): Show AGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0055 a0001c0001t0121g0055	1	392	0.0026	42	c.21 others(51): Show c.212_*213insCGCCCACATGGGACCGCCCACATGGGACCGCCCACA TGGGAC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	213	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098579	G G	GACCGCCC others(35): Show GACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0001 a0001c0001t0083g0001	1	392	0.0026	42	c.24 others(51): Show c.249_*250insGGGAACGCCCACATAGAACCGCCCACATAGGACCGC CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	250	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098581	C C	CCGCCCAC others(35): Show CCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0103 a0008c0015t0103	a0008c0015t0103g0080 a0008c0015t0103g0080	1	392	0.0026	42	c.23 others(51): Show c.235_*236insGGGACCGCCCACATGGGACCGCCCACATGGGAACGC CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	236	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098591	A A	AGGACCGC others(35): Show AGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 NA18977.hp1 NA19064.hp1 HG01884.hp2 NA18977.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0042 a0001c0001t0025g0061 a0001c0001t0025g0074 a0001c0001t0025g0042 a0001c0001t0025g0061 a0001c0001t0025g0074	3	392	0.0077	42	c.24 others(51): Show c.249_*250insGGGACCGCCCACATGGGACCGCCCACATGGGACCGC CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	250	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098595	C C	CCGCCCAC others(35): Show CCGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG02145.hp1 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0061 a0001c0005t0061	a0001c0005t0061g0275 a0001c0005t0061g0277 a0001c0005t0061g0275 a0001c0005t0061g0277	2	392	0.0051	42	c.25 others(51): Show c.251_*252insAACCGCCCACATAGGACCGCCCACATGGGAACGCCC ACATAG	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	252	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098595	C C	CCGCCCAC others(35): Show CCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp2 HG04115.hp2 NA19056.hp2 others(1): Show HG03942.hp2 HG04115.hp2 NA19056.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0013 a0001c0001t0019g0077 a0001c0001t0019g0107 others(1): Show a0001c0001t0019g0013 a0001c0001t0019g0077 a0001c0001t0019g0107 a0001c0001t0019g0185	4	392	0.0102	42	c.24 others(51): Show c.249_*250insGGGACCGCCCACATGGGACCGCCCACATGGGAACGC CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	250	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098598	C C	CCCACATA others(35): Show CCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG03516.hp1 HG02258.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0119 a0001c0003t0053g0128 a0001c0003t0053g0119 a0001c0003t0053g0128	2	392	0.0051	42	c.27 others(51): Show c.277_*278insAGAACCGTCCACATAGGACCGCCCACATGGGACCGC CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	278	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098605	A A	AGAACCGC others(35): Show AGAACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0170 a0001c0005t0170	a0001c0005t0170g0005 a0001c0005t0170g0005	1	392	0.0026	42	c.25 others(51): Show c.251_*252insAACCGCCCACATAGGACCGCCCACATGGGAACGCCC ACATGG	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	252	INFO_REALIGN_3_PRIME	chr2	TogoVar

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