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
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0036 a0001c0023t0003g0036	1	378	0.0027	34	c.20+ others(51): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAFB_chr19_5618083_5673478	5671705	T T	TTTGTAGA others(27): Show TTTGTAGAGATGGGGTTTCATCATGCCCAGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	282	0.0036	34	c.34 others(45): Show c.3414_*3415insTTGTAGAGATGGGGTTTCATCATGCCCAGGCTGG	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding		3228		chr19	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	324	0.0031	34	c.-15 others(51): Show c.-15-2143_-15-2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMM50_chr22_43950442_44001529	43999963	C C	CACCACTG others(27): Show CACCACTGCACTCTACTCCTCTACCACTTATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0043 a0001c0006t0001g0043	1	378	0.0027	34	c.35 others(45): Show c.3580_*3581insACCACTGCACTCTACTCCTCTACCACTTATCTCT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding		3435		chr22	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCGC others(27): Show GCGCGCGCACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	34	c.-89 others(43): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	360	0.0028	34	c.995 others(49): Show c.995-649_995-648insAAAAAAAAAAAATATATATATATATATATA TATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	360	0.0028	34	c.995 others(49): Show c.995-649_995-648insAAAAAAAAAAAAAAAAAATATATATATATA TATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668454	T T	TCCCCTCA others(27): Show TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0262 a0002c0002t0002g0262	1	262	0.0038	34	c.249 others(53): Show c.2496-1585_2496-1584insGAGAGGGAGGGTGAGGGAGAGAGAGG GTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668711	T T	TCCCCTCA others(27): Show TCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0004 a0003c0013t0004	a0003c0013t0004g0052 a0003c0013t0004g0052	1	262	0.0038	34	c.249 others(53): Show c.2496-1842_2496-1841insGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(27): Show TCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA20129.hp1 HG02109.hp1 NA18522.hp1 NA20129.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0036 a0001c0001 a0003c0003 a0006c0036	a0001c0001t0001 a0003c0003t0002 a0006c0036t0002 a0001c0001t0001 a0003c0003t0002 a0006c0036t0002	a0001c0001t0001g0258 a0003c0003t0002g0240 a0006c0036t0002g0056 a0001c0001t0001g0258 a0003c0003t0002g0240 a0006c0036t0002g0056	3	262	0.0115	34	c.249 others(53): Show c.2495+1315_2495+1348dupGAGAGGGAGGGTGAGGGGAGAGGGAG GGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(27): Show GTGCGCACGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp2 others(8): Show HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01981.hp2 HG02698.hp2 NA18946.hp1 NA18999.hp2 NA19063.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0004c0008	a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 others(4): Show a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0005t0006 a0004c0008t0001	a0001c0001t0009g0002 a0001c0001t0009g0004 a0001c0001t0009g0010 others(8): Show a0001c0001t0009g0002 a0001c0001t0009g0004 a0001c0001t0009g0010 a0001c0001t0010g0143 a0002c0002t0001g0104 a0002c0002t0001g0305 a0002c0002t0002g0014 a0002c0002t0007g0250 a0002c0005t0006g0013 a0004c0008t0001g0066 a0004c0008t0001g0245	11	322	0.0342	34	c.157 others(53): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(27): Show GTGCGCACGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0217 a0001c0007t0004g0217	1	322	0.0031	34	c.157 others(53): Show c.157-21366_157-21365insTGCGCACGCGCACACACACACACACA CACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387625	T T	TTCCTTCC others(27): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0171 a0002c0005t0006g0171	1	322	0.0031	34	c.157 others(51): Show c.157-2508_157-2507insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02717.hp2 HG01074.hp2 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0005 a0002c0002t0001 a0001c0007t0005 a0002c0002t0001	a0001c0007t0005g0322 a0002c0002t0001g0104 a0001c0007t0005g0322 a0002c0002t0001g0104	2	322	0.0062	34	c.386 others(51): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789165	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	307	0.0033	34	c.300 others(49): Show c.300+589_300+590insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SAT1_chrX_23778173_23791210	23780126	C C	CATATATA others(27): Show CATATATATGTGTATATATATGTGTATATATACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	34	c.-32 others(45): Show c.-3226_-3225insATATATATGTGTATATATATGTGTATATATACCT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3046		chrX	TogoVar
SAXO1_chr9_18922650_19038209	18938830	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0175 a0003c0003t0005g0175	1	364	0.0028	34	c.421 others(51): Show c.421+2806_421+2807insTACACACACACACACACACACATACACA CACACA	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	3/3			chr9	TogoVar
SAXO1_chr9_18922650_19038209	18938832	G G	GTGTGTGT others(27): Show GTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03491.hp2 HG03492.hp2 HG02683.hp2 HG03491.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0028 a0003c0003 a0001c0028 a0003c0003	a0001c0028t0007 a0003c0003t0005 a0001c0028t0007 a0003c0003t0005	a0001c0028t0007g0289 a0003c0003t0005g0177 a0003c0003t0005g0178 a0001c0028t0007g0289 a0003c0003t0005g0177 a0003c0003t0005g0178	3	364	0.0082	34	c.421 others(51): Show c.421+2804_421+2805insTACACACACACACACACACACACATACA CACACA	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	3/3			chr9	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	224	0.0045	34	c.976 others(49): Show c.976-580_976-579insATATATATATATATATATATATATATATAT ATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	224	0.0045	34	c.56- others(49): Show c.56-2880_56-2879insAAAAAAAATATATATATATATATATATATA TATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	224	0.0045	34	c.56- others(49): Show c.56-2880_56-2879insAAAAAAAAAAAAAATATATATATATATATA TATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	260	0.0039	34	c.403 others(51): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA19011.hp1 NA19057.hp1 HG00621.hp1 NA19011.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0002t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0010	3	450	0.0067	34	c.31 others(45): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0024 a0004c0006t0024	a0004c0006t0024g0090 a0004c0006t0024g0090	1	414	0.0024	34	c.678 others(49): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(27): Show TACACACACACACATATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA18522.hp1 NA18980.hp2 others(2): Show HG02683.hp1 NA18522.hp1 NA18980.hp2 NA19030.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0040 others(2): Show a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0040 a0001c0002t0002g0069 a0003c0004t0002g0006	5	382	0.0131	34	c.15 others(45): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(27): Show TACACACACACACATATATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0011 a0003c0004t0002g0011	1	382	0.0026	34	c.15 others(45): Show c.1585_*1586insACACACACACACATATATACACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154796389	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	282	0.0036	34	c.606 others(51): Show c.606+1253_606+1254insCTCTCTCTCTCTCTCTCTCTCTGTCTGT CTGTCT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0293 a0001c0001t0005g0293	1	306	0.0033	34	c.98+ others(51): Show c.98+36510_98+36511insATATATATATATATATTTTTTTTTTTTT TTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19084.hp2 NA18964.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0043 a0002c0002t0007 a0001c0001t0043 a0002c0002t0007	a0001c0001t0043g0284 a0002c0002t0007g0225 a0001c0001t0043g0284 a0002c0002t0007g0225	2	306	0.0065	34	c.98+ others(51): Show c.98+36510_98+36511insATATATATATATATATATATATTTTTTT TTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTCTTTC others(27): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0321 a0001c0001t0003g0321	1	332	0.0030	34	c.852 others(51): Show c.852+1442_852+1443insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA19057.hp1 HG01070.hp2 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0236 a0002c0002t0002g0298 a0002c0002t0002g0236 a0002c0002t0002g0298	2	312	0.0064	34	c.331 others(53): Show c.3311+5211_3311+5212insTATATATATATATATATATATATATA TATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(27): Show CACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0269 a0002c0002t0002g0269	1	312	0.0032	34	c.264 others(55): Show c.2645+13281_2645+13282insATATATATATATATATATATATAT ATATGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCARB1_chr12_124771856_124868864	124837594	A A	AAAAGAAA others(27): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	356	0.0028	34	c.127 others(53): Show c.127-19888_127-19887insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp2 HG00741.hp1 HG02258.hp2	a0032 a0036 a0032 a0036	a0032c0031 a0036c0037 a0032c0031 a0036c0037	a0032c0031t0003 a0036c0037t0011 a0032c0031t0003 a0036c0037t0011	a0032c0031t0003g0121 a0036c0037t0011g0052 a0032c0031t0003g0121 a0036c0037t0011g0052	2	434	0.0046	34	c.196 others(51): Show c.1969+319_1969+320insATATATATATATATATATATATATATAT ATATAT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0107 a0004c0021t0003g0107	1	434	0.0023	34	c.196 others(51): Show c.1969+327_1969+328insATATATATATATATATATATATATATTT TTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133472333	T T	TGTTGAGT others(27): Show TGTTGAGTGTGGCATCTCCCTCCTGAGATCTAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01891.hp2 HG02280.hp1 others(5): Show HG01069.hp2 HG01891.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG03041.hp2 NA20300.hp2	a0004 a0012 a0004 a0012	a0004c0005 a0004c0020 a0004c0043 others(1): Show a0004c0005 a0004c0020 a0004c0043 a0012c0028	a0004c0005t0005 a0004c0020t0005 a0004c0043t0005 others(1): Show a0004c0005t0005 a0004c0020t0005 a0004c0043t0005 a0012c0028t0002	a0004c0005t0005g0166 a0004c0005t0005g0168 a0004c0020t0005g0044 others(4): Show a0004c0005t0005g0166 a0004c0005t0005g0168 a0004c0020t0005g0044 a0004c0020t0005g0164 a0004c0020t0005g0165 a0004c0043t0005g0167 a0012c0028t0002g0037	8	434	0.0184	34	c.43 others(45): Show c.4365_*4366insGTTGAGTGTGGCATCTCCCTCCTGAGATCTAGTC	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2574		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472934	G G	GTTGAGTG others(27): Show GTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0001 a0004c0015t0001g0001	1	434	0.0023	34	c.49 others(45): Show c.4966_*4967insTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCA	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		3175		chr10	TogoVar
SCD5_chr4_82624539_82803796	82626122	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	210	0.0048	34	c.52 others(45): Show c.5204_*5205insTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3416		chr4	TogoVar
SCFD1_chr14_30617319_30740850	30625721	A A	ATACCTAT others(27): Show ATACCTATATAGGTATAGGTATATAGGTATATAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00735.hp1 others(2): Show HG00639.hp2 HG00673.hp2 HG00735.hp1 NA18747.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0098 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0114	5	328	0.0152	34	c.62- others(49): Show c.62-2486_62-2485insCCTATATAGGTATAGGTATATAGGTATATA GGTA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52869869	C C	CGTGGAAT others(27): Show CGTGGAATGGGCCTGTCGTGTGTGGAACATGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0126 a0001c0003t0005g0126	1	162	0.0062	34	c.40 others(45): Show c.4099_*4100insACCTCATGTTCCACACACGACAGGCCCATTCCAC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding		3112		chr4	TogoVar
SCFD2_chr4_52867982_53371061	52870966	A A	ACGAAGTG others(27): Show ACGAAGTGGAAGAGGTGGGATTGGAATCCAGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0149 a0003c0008t0002g0149	1	162	0.0062	34	c.30 others(45): Show c.3002_*3003insATGGCTGGATTCCAATCCCACCTCTTCCACTTCG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding		2015		chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01346.hp2 others(7): Show HG00140.hp2 HG00735.hp1 HG01346.hp2 HG01515.hp2 HG03492.hp1 HG03669.hp1 NA18612.hp1 NA19088.hp1 NA19240.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0004 a0001c0007t0001 a0006c0013t0001	a0001c0001t0001g0048 a0001c0001t0002g0059 a0001c0001t0002g0112 others(7): Show a0001c0001t0001g0048 a0001c0001t0002g0059 a0001c0001t0002g0112 a0001c0003t0003g0062 a0001c0005t0001g0026 a0001c0005t0001g0034 a0001c0005t0004g0030 a0001c0005t0004g0033 a0001c0007t0001g0036 a0006c0013t0001g0031	10	162	0.0617	34	c.156 others(53): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18981.hp1 NA19001.hp1 NA18946.hp1 NA18981.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0308 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0001g0308 a0001c0001t0005g0075 a0001c0001t0005g0076	3	402	0.0075	34	c.120 others(53): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATA	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(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	415	0.0024	34	c.226 others(53): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATAT	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(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG04115.hp1 HG01168.hp2 HG01169.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0326 a0001c0001t0001g0005 a0001c0001t0001g0326	3	415	0.0072	34	c.226 others(53): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196541	G G	GGGGGACC others(27): Show GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00733.hp2 others(9): Show HG00140.hp2 HG00280.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01081.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	12	354	0.0339	34	c.20 others(45): Show c.2091_*2092insGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1967		chr11	TogoVar
SCGB1C2_chr17_132569_144067	136878	T T	TGGGGGGT others(27): Show TGGGGGGTTGAACCCCAGGATAGCAACCCCAAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01070.hp2 others(61): Show HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18943.hp1 NA18961.hp2 NA18982.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0004g0003 a0002c0002t0001g0003 others(6): Show a0001c0001t0001g0009 a0001c0001t0004g0003 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0004c0004t0001g0015	64	402	0.1592	34	c.-71 others(43): Show c.-713_-712insGGGGGGTTGAACCCCAGGATAGCAACCCCAAGCC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		690		chr17	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0082 a0001c0001t0066g0082	1	370	0.0027	34	c.-20 others(57): Show c.-2031-12067_-2031-12066insATATATATATATATATATATAT ATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0342 a0001c0001t0032g0342	1	370	0.0027	34	c.-20 others(57): Show c.-2031-12091_-2031-12090insGTATATATATATATATATATAT ATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTGT others(27): Show GTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0022 a0001c0001t0025g0022	1	372	0.0027	34	c.354 others(49): Show c.354+696_354+697insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar

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