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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRKCA_chr17_66297613_66815743	66798647	G G	GTGGTGAT others(197): Show GTGGTGATGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0169 a0001c0001t0020g0169	1	178	0.0056	204	c.185 others(223): Show c.1855-5221_1855-5220insATGGTAATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTAATGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPF31_chr19_54110754_54136713	54133833	C C	CTCTCTCC others(197): Show CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTGT CCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTC CACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	227	0.0044	204	c.24 others(215): Show c.2401_*2402insTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCC TCACTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC CACCTCCCCTCACTCCACCT		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2121		chr19	TogoVar
PRSS57_chr19_680546_700452	689222	G G	GGGGCTGG others(197): Show GGGGCTGGAAGGGTGGTCCAGGGGTTAGCAGGAGATGATGGGGCCGGAAG GGTGGTCCAGGGGTTAGCAGGTGACGACGGGGCTAGAAGGGTGGTCCAGG GGTTAGCAGGAGATGACGGGGCCGGAAGGGTGGTCCAGGGGTTAGCAGGT GACGACGGCGCTAGAAGGGTGGTCCACAGGTTAGCAGGTGACGACGGGGC TGGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0050 a0006c0014t0001g0050	1	442	0.0023	204	c.379 others(221): Show c.379-2035_379-2034insTTCCAGCCCCGTCGTCACCTGCTAACCT GTGGACCACCCTTCTAGCGCCGTCGTCACCTGCTAACCCCTGGACCACCC TTCCGGCCCCGTCATCTCCTGCTAACCCCTGGACCACCCTTCTAGCCCCG TCGTCACCTGCTAACCCCTGGACCACCCTTCCGGCCCCATCATCTCCTGC TAACCCCTGGACCACCCTTCCAGCCC		PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4						chr19	TogoVar
PSME3_chr17_42828397_42848760	42848524	A A	AATATATA others(197): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATGTA TATATATATATATACATGTATATATATATATACGTATATATATATATACA TGTATATATATATATATGTATATATATATATATACATGTATATATATATA TACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	264	0.0038	204	c.69 others(215): Show c.6946_*6947insATATATATATACATATATATATATATATGTATAT ATATATATATACATGTATATATATATATGTATATATATATATATACATGT ATATATATATATGTATATATATATATATACATGTATATATATATATACGT ATATATATATATACATGTATATATATATATATGTATATATATATATATAC ATGTATATATATATATACGT		PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding					4765		chr17	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(197): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAG GACCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0058 a0001c0001t0034g0058	1	323	0.0031	204	c.405 others(221): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429917	T T	TCCGGGTC others(197): Show TCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCAC AGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCA CAGCCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGC ACAGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	323	0.0031	204	c.405 others(219): Show c.405-988_405-987insAGGTGGCGGGGGCAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAG CCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACA GCCCGGGTCCCCGCTGTAAGGACC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429917	T T	TCCGGGTC others(197): Show TCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCAC AGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGGCAGGGTGAGCGCA CAGCCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGC ACAGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	323	0.0031	204	c.405 others(219): Show c.405-988_405-987insAGGTGGCGGGGGCAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGGCAGGGTGAGCGCACAG CCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACA GCCCGGGTCCCCGCTGTAAGGACC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PWWP2B_chr10_132392200_132422859	132392570	A A	ATGGTGAT others(197): Show ATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGT GGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGGTGA TAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAAT GATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	374	0.0027	204	c.-46 others(215): Show c.-4657_-4656insTGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGA TGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGAT GGGGGTGGTGGTAATGATGG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4629		chr10	TogoVar
PYHIN1_chr1_158926552_158982059	158939943	T T	TGAAAACC others(197): Show TGAAAACCCGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	398	0.0025	204	c.579 others(219): Show c.579+704_579+705insGGGGAGGGATAGCATTGGGAGATATACCTA ATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTAT ACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAG TATAATAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAAACCC		PYHIN1	ENSG00000163564.15	transcript	ENST00000368140.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(197): Show TATGCGTATATATACGTATATACACATATATGCGTATATATACGTATATA CACACACATATGTGTGTGTATATACGGATATACACACACATATGTGTGTA TATATCCGTATATATACACATATGTGTGTATATACGTATATACACACATA TGTGTGTGTATATACGGATATACACATATATGTGTGTATATATACGTATA TACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG03098.hp2 others(2): Show HG01884.hp1 HG02622.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0232 a0001c0001t0002g0233 others(2): Show a0001c0001t0002g0153 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0274 a0001c0001t0002g0304	5	320	0.0156	204	c.468 others(221): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATAT CCGTATATACACACACATATGTGTGTGTATATACGTATATATACGCATAT ATGTGTATATACGTATATATACGCAT		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6						chr15	TogoVar
RAB3B_chr1_51902956_51995700	51906869	A A	AAGGGAAG others(197): Show AAGGGAAGGAAGGAAGGAGGGAGGAGGGAGGAGGGAGGAAGGAGGAAGGA AGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAG GAGGGAAGAAAGGAAAGAAGGAGGGAGGAGGGAGGAAGGAAGGAAGGAAG GGAGGGAGGAAGGAAAGATGAAGGAAGGAAGGAAGGAAAGATGAAGGAAG GAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0058 a0001c0002t0033g0058	1	62	0.0161	204	c.13 others(217): Show c.13057_*13058insCCTTCCTTCCTTCATCTTTCCTTCCTTCCTTC CTTCATCTTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCTCC CTCCTTCTTTCCTTTCTTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTC CCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCTTCCTCCCTCCTCCCTC CTCCCTCCTTCCTTCCTTCCCT		RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding					1086		chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597135	A A	ATAATATA others(197): Show ATAATATATATAATACATTATATATATTATATAATATATATAATACATTA TATATATTATATAATATATATAATACATTATATATATTATATAATATATA TAATACATTATATATATTATATAATATATAATACATTATATTTTATATAA TATAGATAATACATTATATATATTATATAATAATATATAATACATAATAT ATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0132 a0001c0001t0045g0132	1	220	0.0046	204	c.24+ others(221): Show c.24+13903_24+13904insTAATATATATAATACATTATATATATTA TATAATATATATAATACATTATATATATTATATAATATATATAATACATT ATATATATTATATAATATATATAATACATTATATATATTATATAATATAT AATACATTATATTTTATATAATATAGATAATACATTATATATATTATATA ATAATATATAATACATAATATATAAT		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4						chr5	TogoVar
RABL6_chr9_136802948_136846187	136803282	T T	TGGGGCCC others(197): Show TGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	330	0.0030	204	c.-49 others(215): Show c.-4915_-4914insGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCG		RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding					4665		chr9	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(197): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATATGTGTATATAT ATATGTGTATATATATGTGTATATATATATGTGTATATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02135.hp2 NA18747.hp2 others(2): Show HG00408.hp1 HG02135.hp2 NA18747.hp2 NA18992.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0147 a0002c0002t0002g0146	5	254	0.0197	204	c.-49 others(221): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATGTGTATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATAT		RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114113606	A A	ATCCACCC others(197): Show ATCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATC AGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCAT CAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCA TCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCC ATCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG02257.hp1 others(10): Show HG00639.hp1 HG00639.hp2 HG02257.hp1 HG02280.hp1 HG02723.hp1 HG02738.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp1 NA18522.hp1 NA18522.hp2 NA18973.hp2 NA19079.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0008	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0002c0004t0009 a0003c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0002t0002g0004 a0002c0004t0009g0010 a0003c0008t0002g0006	13	67	0.1940	204	c.55+ others(221): Show c.55+18828_55+18829insCTGATGGACGCGGTGTGAGCTGTACGGA CATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTGTACGG ACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTGTACG GACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTGTAC GGACATCACTCGCCATGGTGGGTGGA		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79495561	G G	GGGGCAGG others(197): Show GGGGCAGGGATGGGGGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGG GAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAG GGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGGGTGCAGGA AGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGG GTACT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp1 HG02976.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0093 a0001c0001t0023g0127 a0001c0001t0002g0093 a0001c0001t0023g0127	2	154	0.0130	204	c.-31 others(225): Show c.-319-12964_-319-12963insAGTACCCCTGCCCCCACCTCCCCA CCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCTGCACCCCCATCCCTG CCTCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCAC CTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTC CCCCACCTTCCCGCACCCCCATCCCTGCCC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(197): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACATACGTATG TGTATACATACATACGTATGTATGTGTATACATACATACGTATGTATGTG TATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG01255.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	452	0.0044	204	c.-23 others(215): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACACATACGTATGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATATGTAT GCATACACATACATACATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(197): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATGCATACGTATGTATGTATGTGTATGCATACGTATGTATGTATGTGTA TGCATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	204	c.-23 others(215): Show c.-2310_-2309insGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGCATACACATACATACATACGTATGCATACAC ATACATACATACGTATGCATACACATACATACATATGTATGCATACACAT ACATATGTATGCATACACATACATATGTATGCATACACATACATATGTAT GCATACACATACATACATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759584	T T	TACATACG others(197): Show TACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACATACGTATGTATGTGTACACA TACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTA TGTATGTGTACACATACATATGTATGTATGTGTACACATACATATGTATG TGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18987.hp2 NA18968.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	452	0.0044	204	c.-24 others(215): Show c.-2400_-2399insGTACACATACATATGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2175		chr3	TogoVar
RHOB_chr2_20442074_20454440	20446087	A A	AATAGTGT others(197): Show AATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGT ACAAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGT ACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03209.hp1 HG02572.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0000 a0001c0001t0020g0000 a0001c0001t0002g0000 a0001c0001t0020g0000	2	368	0.0054	204	c.-13 others(215): Show c.-1379_-1378insATAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTAT TGTACATTCTATTGTACAAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTAT TGTACATTCTATTGTACAAT		RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding					986		chr2	TogoVar
RHOB_chr2_20442074_20454440	20446087	A A	AATAGTGT others(197): Show AATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGT ACAATAGTGTATATTCTATTGTACATTCTATTGTACAAGTGTATATTCTA TTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGT ACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	368	0.0027	204	c.-13 others(215): Show c.-1379_-1378insATAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTAT TGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGTA CAAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTAT TGTACATTCTATTGTACAAT		RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding					986		chr2	TogoVar
RIPOR2_chr6_24799284_24940960	24927054	C C	CCAGCACC others(197): Show CCAGCACCACTACAACTACAATCACCACCATCACCATCACTACCACCAGC ACCACTACAACTACAATCACCATCACCACCACCACCACAACTACAATCAC CACCACCACCACTACAACTACAGTTACCACCACCATCACCACCACCACCA CCACAACTACAATCACCACCACCACCACTACCACCAGCACCACTACAACT ACAAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18953.hp2 NA18968.hp1 others(4): Show NA18940.hp2 NA18953.hp2 NA18968.hp1 NA18994.hp2 NA19060.hp1 NA19065.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0003t0002	a0001c0001t0001g0027 a0001c0001t0001g0082 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0004g0085 a0001c0001t0007g0083 a0001c0003t0002g0100 a0001c0003t0002g0101	7	328	0.0213	204	c.61+ others(219): Show c.61+8783_61+8784insATTGTAGTTGTAGTGGTGCTGGTGGTAGTG GTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGTGATGGTGGTGGT AACTGTAGTTGTAGTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGG TGATGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTGATGGTG GTGATTGTAGTTGTAGTGGTGCTG		RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21						chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(197): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0083 a0001c0010t0002g0083	1	280	0.0036	204	c.3+2 others(219): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAA		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21						chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(197): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA20905.hp2 HG03516.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0189 a0001c0001t0010g0072 a0001c0001t0001g0189 a0001c0001t0010g0072	2	396	0.0051	204	c.-76 others(213): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(197): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01169.hp2 HG01256.hp1 others(5): Show HG00597.hp1 HG01169.hp2 HG01256.hp1 HG03710.hp1 NA18747.hp2 NA18953.hp1 NA18982.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0128 a0001c0001t0003g0140 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0128 a0001c0001t0003g0140 a0001c0001t0005g0126 a0001c0001t0007g0002 a0001c0001t0008g0116	8	396	0.0202	204	c.-76 others(213): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(197): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0179 a0003c0006t0001g0179	1	426	0.0024	204	c.22 others(215): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATC		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2044		chr13	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(197): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGCG GGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCG AGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCG ACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCC CCCGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG03471.hp1 others(1): Show HG02559.hp1 HG02886.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0015 a0001c0002t0006 a0001c0001t0011 a0001c0001t0015 a0001c0002t0006	a0001c0001t0011g0173 a0001c0001t0015g0170 a0001c0001t0015g0171 others(1): Show a0001c0001t0011g0173 a0001c0001t0015g0170 a0001c0001t0015g0171 a0001c0002t0006g0172	4	356	0.0112	204	c.-36 others(219): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCG CACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGG ACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCC CGCCGCCCCCGCCGCCCCCGCGGC		RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
RP1L1_chr8_10601349_10660143	10609969	C C	CTTCCTCT others(197): Show CTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTGCTCCTGTTTCT TCAATTTCCTCTAACTGCGCCTCTTCTTCTTGCTGTCCTTCTCCTTCCGT TTCTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTG TTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03195.hp1 HG03195.hp1	a0074 a0074	a0074c0173 a0074c0173	a0074c0173t0005 a0074c0173t0005	a0074c0173t0005g0373 a0074c0173t0005g0373	1	414	0.0024	204	c.412 others(213): Show c.4128_4129insACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCA GTTAGAGGGGACTAAAGAAACGGAAGGAGAAGGACAGCAAGAAGAAGAGG CGCAGTTAGAGGAAATTGAAGAAACAGGAGCAGAAGGGCTGCAAGAAGAG GGGGTGCAGTTAGAGGAA	p.Glu others(219): Show p.Glu1376_Val1377insThrLysThrGluGluGlyLeuGlnGluGlu GlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGl yValGlnLeuGluGlyThrLysGluThrGluGlyGluGlyGlnGlnGluG luGluAlaGlnLeuGluGluIleGluGluThrGlyAlaGluGlyLeuGln GluGluGlyValGlnLeuGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4393/8014	4128/7203	1376/2400			chr8	TogoVar
RPS6KA4_chr11_64354162_64377215	64354722	A A	ACCTCAGC others(197): Show ACCTCAGCCCCCTCTTCTGACCCCCTCCCTGCATGAGACTCAGTCCCCGT TCCCTTCCTCTGACCCCCTCCCTGCATAAGCCTCATCCTCCCCCACTCCT CTGACCCTCTCCCTGCATGAGCCTCAGCCTCCTCCCCTCCTCTGACCCCC TCCCTGCATGAGCCTCAGCCCCCACTTCCCTTCTCTGACCTCCTCCCTGC AGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	402	0.0025	204	c.-45 others(215): Show c.-4514_-4513insCCTCAGCCCCCTCTTCTGACCCCCTCCCTGCATG AGACTCAGTCCCCGTTCCCTTCCTCTGACCCCCTCCCTGCATAAGCCTCA TCCTCCCCCACTCCTCTGACCCTCTCCCTGCATGAGCCTCAGCCTCCTCC CCTCCTCTGACCCCCTCCCTGCATGAGCCTCAGCCCCCACTTCCCTTCTC TGACCTCCTCCCTGCAGGAG		RPS6KA4	ENSG00000162302.13	transcript	ENST00000334205.9	protein_coding					4439		chr11	TogoVar
RSPH10B_chr7_5921136_5975689	5930763	C C	CGTACACA others(197): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCAAGATGCCTAGCA GCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTG AGCAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	70	0.0143	204	c.223 others(223): Show c.2233+2018_2233+2019insATGCTCACCTTTGCTGCTAGGCATCT TGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGCTG TGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATGC TCACCTTTGCTGCTAGGTATCTTGGGGGGCTGTGTACATGTACACCTTTG CTGCTAGGCATCTTGGTGGGCTGTGTAC		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20						chr7	TogoVar
RSRC1_chr3_158105089_158550730	158372046	T T	TTTTTTTT others(197): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGACTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0163 a0001c0001t0019g0163	1	276	0.0036	204	c.583 others(223): Show c.583+17138_583+17139insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTG		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9						chr3	TogoVar
SCARB1_chr12_124771856_124868864	124839967	C C	CCTCACCC others(197): Show CCTCACCCCAACGGCACACATGGGCCCGATTTCTCCGCACCCTCACCCCA ACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACAC ATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCC GATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCC GCACA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0095 a0001c0003t0002g0095	1	356	0.0028	204	c.127 others(223): Show c.127-22261_127-22260insTGTGCGGAGAAATCGGGGCCCATGTG TGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGG GGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGT GCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAA TCGGGCCCATGTGTGCCGTTGGGGTGAG		SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12						chr12	TogoVar
SCGB1A1_chr11_62414033_62428195	62426177	C C	CGTATTTT others(197): Show CGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	448	0.0022	204	c.30 others(215): Show c.3086_*3087insGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCGCGCCCGGCTAATTTTTT		SCGB1A1	ENSG00000149021.7	transcript	ENST00000278282.3	protein_coding					2983		chr11	TogoVar
SCGB1C1_chr11_188078_199575	195918	A A	AGGACCTG others(197): Show AGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02717.hp1 HG00673.hp1 HG02717.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	2	354	0.0057	204	c.14 others(215): Show c.1468_*1469insGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGG		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1344		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(197): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	390	0.0026	204	c.48 others(215): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCT		SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding					4682		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(197): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0083	1	290	0.0035	204	c.166 others(221): Show c.1662+239_1662+240insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288596	T T	TCTGCTCC others(197): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTG CTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCCCCGTCCCCCG TGTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	290	0.0035	204	c.166 others(221): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCCC CGTCCCCCGTGTCCCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCC others(197): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0281 a0005c0016t0001g0281	1	290	0.0035	204	c.166 others(221): Show c.1662+571_1662+572insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289606	T T	TCTGCCCC others(197): Show TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0006 a0001c0036t0006	a0001c0036t0006g0123 a0001c0036t0006g0123	1	290	0.0035	204	c.166 others(221): Show c.1663-661_1663-660insCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3975907	T T	TAGAGGGT others(197): Show TAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	116	0.0086	204	c.199 others(223): Show c.1994+1386_1994+1387insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976085	A A	AGGGTCCC others(197): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0006 a0006	a0006c0044 a0006c0044	a0006c0044t0001 a0006c0044t0001	a0006c0044t0001g0020 a0006c0044t0001g0020	1	116	0.0086	204	c.199 others(223): Show c.1994+1590_1994+1591insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976264	T T	TAGAGGAT others(197): Show TAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0065 a0004c0065	a0004c0065t0037 a0004c0065t0037	a0004c0065t0037g0065 a0004c0065t0037g0065	1	116	0.0086	204	c.199 others(223): Show c.1994+1724_1994+1725insATCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACACAGAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976264	T T	TAGAGGGT others(197): Show TAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC ACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC CACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0027 a0001c0059t0027	a0001c0059t0027g0090 a0001c0059t0027g0090	1	116	0.0086	204	c.199 others(223): Show c.1994+1743_1994+1744insGGGGTCCCGGGGCTGAGGCTGCCACA CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACACAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(197): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCAGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0022 a0001c0046t0022	a0001c0046t0022g0091 a0001c0046t0022g0091	1	116	0.0086	204	c.199 others(223): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCC AGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(197): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0034 a0002c0030t0034	a0002c0030t0034g0083 a0002c0030t0034g0083	1	116	0.0086	204	c.199 others(223): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3977057	C C	CGGTCCTC others(197): Show CGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACAC AGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACG CAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG00735.hp2 HG01123.hp1	a0001 a0005 a0001 a0005	a0001c0032 a0005c0003 a0001c0032 a0005c0003	a0001c0032t0058 a0005c0003t0052 a0001c0032t0058 a0005c0003t0052	a0001c0032t0058g0043 a0005c0003t0052g0070 a0001c0032t0058g0043 a0005c0003t0052g0070	2	116	0.0172	204	c.199 others(223): Show c.1994+2532_1994+2533insAGGGTCCCAGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977349	A A	AGGGTCCC others(197): Show AGGGTCCCAGGGCTGAGGCTGCCACGCAGGGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATC ACTGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0080 a0005c0080	a0005c0080t0014 a0005c0080t0014	a0005c0080t0014g0078 a0005c0080t0014g0078	1	116	0.0086	204	c.199 others(223): Show c.1994+2811_1994+2812insAGGGCTGAGGCTGCCACGCAGGGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAG GGTCCTCCAGAGAATCACTGGGGGTCCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35814055	T T	TAAAAGTT others(197): Show TAAAAGTTGGAGAGTATTATACAAAAAATTAGCCGGGCGCGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 HG02809.hp2 others(3): Show HG01255.hp2 HG02257.hp1 HG02809.hp2 HG03471.hp1 HG03486.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0039 a0001c0001t0005 a0001c0001t0022 a0001c0001t0039	a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 others(3): Show a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0022g0194 a0001c0001t0022g0195 a0001c0001t0039g0196	6	346	0.0173	204	c.61+ others(221): Show c.61+12802_61+12803insATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAAAAAAAAGTTGGAGAGTATT		SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
SH3BP4_chr2_234947017_235060714	235010760	C C	CCTCTCCT others(197): Show CCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCCCTCT CGTAGAACCCTTCCTCACTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAG GAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGAA CCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCCCTCTCCTAGAACCCTT CCTCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	348	0.0029	204	c.-13 others(225): Show c.-133+15393_-133+15394insAACCCTTCTTCCCTCTCCTAGGAG AACCTTTCCTCCCTCTCGTAGAACCCTTCCTCACTCTCCTAGGAGAACCC TTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTT CCTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCC CTCTCCTAGAACCCTTCCTCACTCTCCTAG		SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235010769	G G	GAACCCTT others(197): Show GAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCCCTCTCGTAGAACC CTTCCTCACTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCT TCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTC CTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCCC TCTCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0021 a0002c0001t0021	a0002c0001t0021g0011 a0002c0001t0021g0011	1	348	0.0029	204	c.-13 others(225): Show c.-133+15393_-133+15394insAACCCTTCTTCCCTCTCCTAGGAG AACCTTTCCTCCCTCTCGTAGAACCCTTCCTCACTCTCCTAGGAGAACCC TTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTT CCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCC CTCTCCTAGGAGAACCTTTCCTCCCTCTCC		SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5						chr2	TogoVar

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Search Results (Total: 10000 hits)