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
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0083 a0001c0001t0006g0083	1	390	0.0026	40	c.720 others(57): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAATATATATATA TATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241316356	G G	GCCCGACA others(33): Show GCCCGACAAACACTTAGAGCTTGTGTGGCCATCTTGTCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01123.hp2 HG01928.hp1 others(18): Show HG00099.hp2 HG01123.hp2 HG01928.hp1 HG02004.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp2 HG04184.hp1 NA18939.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19002.hp1 NA19054.hp2 NA19074.hp2 NA19087.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0054 others(16): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0002c0003t0002g0059	21	408	0.0515	40	c.-18 others(55): Show c.-18+376_-18+415dupCCGACAAACACTTAGAGCTTGTGTGGCCAT CTTGTCTTTC	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241316356	G G	GCCCGACA others(33): Show GCCCGACAAGCACTTAGAGCTTGTGTGGCCATCTTGTCTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	408	0.0025	40	c.-18 others(55): Show c.-18+382_-18+383insGCACTTAGAGCTTGTGTGGCCATCTTGTCT TTCCCGACAA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN5_chr22_19709503_19728319	19726637	C C	CGTGAGGA others(33): Show CGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	40	c.41 others(51): Show c.4153_*4154insGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTG GGGGCG	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		3319		chr22	TogoVar
SERAC1_chr6_158104519_158173262	158156879	G G	GATATTAA others(33): Show GATATTAATATATTTATATAGATATTAATATATTTATATAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0312 a0001c0002t0003g0312	1	366	0.0027	40	c.91+ others(55): Show c.91+1354_91+1393dupTTATATAAATATATTAATATCTATATAAAT ATATTAATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	2/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169462	T T	TTATATTG others(33): Show TTATATTGTATATTATATATAATATATTGTATATTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0286 a0001c0002t0003g0286	1	366	0.0027	40	c.-13 others(51): Show c.-1364_-1325dupTTATATAATATACAATATATTATATATAATATAC AATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1201		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0068 a0001c0001t0100g0068	1	368	0.0027	40	c.92 others(51): Show c.9279_*9280insATATATATATATATATATATATATTTTTTTTTTT TTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERGEF_chr11_17783048_18018047	17896853	T T	TAAGGGAA others(33): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	226	0.0044	40	c.101 others(61): Show c.1012-18649_1012-18610dupCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	366	0.0027	40	c.37 others(51): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERPINA5_chr14_94576426_94598118	94591549	G G	GTTCTATT others(33): Show GTTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0148 a0002c0004t0005g0148	1	464	0.0022	40	c.103 others(57): Show c.1039-483_1039-444dupATTCTATTCTATTCTATTCTATTCTATT CTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA6_chr14_94299248_94328336	94308432	C C	CGAATGAA others(33): Show CGAATGAAATGCACATTGAATGAATGAATGAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG03516.hp1 HG02622.hp1 HG02886.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	3	427	0.0070	40	c.884 others(57): Show c.884+1264_884+1303dupACTCACTCACTCATTCATTCATTCAATG TGCATTTCATTC	SERPINA6	ENSG00000170099.6	transcript	ENST00000341584.4	protein_coding	3/4			chr14	TogoVar
SERPINB12_chr18_63537369_63574329	63551892	G G	GGATTTGG others(33): Show GGATTTGGTCTATGTCCTATTGCTCACCGCACAGAGAGGCA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	402	0.0025	40	c.-18 others(57): Show c.-18-4249_-18-4210dupGATTTGGTCTATGTCCTATTGCTCACCG CACAGAGAGGCA	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0087 a0003c0004t0006g0087	1	402	0.0025	40	c.304 others(55): Show c.304-523_304-522insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 NA18978.hp2 HG00323.hp2 HG01123.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0096 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0096	3	438	0.0069	40	c.-17 others(59): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERTM1_chr13_36669020_36702839	36683779	A A	AGAATGGA others(33): Show AGAATGGAGCGGGCCCGGTGGCGGAGAGGGAGGAACGAGTG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	438	0.0023	40	c.-17 others(59): Show c.-174+9597_-174+9598insATGGAGCGGGCCCGGTGGCGGAGAGG GAGGAACGAGTGGA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SESTD1_chr2_179096678_179269832	179185862	G G	GTTATATA others(33): Show GTTATATACAATATATAATATAGCATATACAATATAGTATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	274	0.0037	40	c.56- others(55): Show c.56-2714_56-2675dupTATACTATATTGTATATGCTATATTATATA TTGTATATAA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17			chr2	TogoVar
SESTD1_chr2_179096678_179269832	179185962	T T	TAGCATAT others(33): Show TAGCATATACAATATAGTATATTATATACAATATATAATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03579.hp1 HG06807.hp2 HG03130.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0120 a0001c0001t0017g0121 a0001c0001t0017g0122 a0001c0001t0017g0120 a0001c0001t0017g0121 a0001c0001t0017g0122	3	274	0.0110	40	c.56- others(55): Show c.56-2814_56-2775dupGTATTATATATTGTATATAATATACTATAT TGTATATGCT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17			chr2	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19056.hp1 HG02895.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	290	0.0069	40	c.676 others(57): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD6_chr16_58510517_58528842	58516124	T T	TGGGGCGG others(33): Show TGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	426	0.0024	40	c.335 others(53): Show c.335-50_335-49insGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC GGGGCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26244163	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19064.hp1 HG01943.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0146 a0001c0001t0005g0126 a0001c0001t0005g0146	2	240	0.0083	40	c.95- others(57): Show c.95-48220_95-48219insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0097 a0002c0002t0017g0097	1	240	0.0042	40	c.240 others(57): Show c.2407+655_2407+656insGGAAGGAAGGGAGGAAAGAAAGAAAGAA AGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	344	0.0029	40	c.495 others(55): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31562983	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0319 a0006c0008t0001g0319	1	322	0.0031	40	c.765 others(57): Show c.765+1610_765+1611insATATATATATATATATATATATATATAT ATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18939.hp2 NA18960.hp2 HG01071.hp1 NA18939.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0250 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0250	3	328	0.0092	40	c.124 others(57): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp2 NA18967.hp2 others(1): Show HG02129.hp1 HG02132.hp2 NA18967.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0279	4	318	0.0126	40	c.240 others(59): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03490.hp2 NA19003.hp1 others(1): Show HG02809.hp2 HG03490.hp2 NA19003.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0015 a0001c0002t0024 others(1): Show a0001c0002t0005 a0001c0002t0015 a0001c0002t0024 a0001c0002t0061	a0001c0002t0005g0082 a0001c0002t0015g0086 a0001c0002t0024g0063 others(1): Show a0001c0002t0005g0082 a0001c0002t0015g0086 a0001c0002t0024g0063 a0001c0002t0061g0103	4	150	0.0267	40	c.192 others(57): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(33): Show TTATATATATATATATATTTATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	102	0.0098	40	c.40- others(57): Show c.40-90553_40-90552insTAAATATATATATATATATATAAATATA TATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15028318	G G	GAAGTTGA others(33): Show GAAGTTGAAGTCAGTTTCATAAGGAACACTATCGTCTTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02897.hp1 others(1): Show HG02055.hp1 HG02451.hp1 HG02897.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0001c0001t0048 a0001c0001t0089 others(1): Show a0001c0001t0028 a0001c0001t0048 a0001c0001t0089 a0002c0002t0007	a0001c0001t0028g0006 a0001c0001t0048g0051 a0001c0001t0089g0050 others(1): Show a0001c0001t0028g0006 a0001c0001t0048g0051 a0001c0001t0089g0050 a0002c0002t0007g0048	4	102	0.0392	40	c.39+ others(59): Show c.39+209227_39+209266dupAGAAAGACGATAGTGTTCCTTATGAA ACTGACTTCAACTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66660011	A A	AAGGAAAG others(33): Show AAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0301 a0002c0002t0003g0301	1	302	0.0033	40	c.460 others(55): Show c.460-502_460-501insAGGAAAGAAAGAAAGAAAGAAAGACAGGAA GGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGACAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18948.hp1 HG02083.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0043 a0001c0004t0001 a0001c0001t0043 a0001c0004t0001	a0001c0001t0043g0194 a0001c0004t0001g0062 a0001c0001t0043g0194 a0001c0004t0001g0062	2	302	0.0066	40	c.460 others(55): Show c.460-498_460-497insAAGAAAGAAAGACAGGAAGGAAGGAAGGAA GGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAAGAAGG others(33): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03927.hp1 NA18961.hp2 HG00438.hp1 HG03927.hp1 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0272 a0002c0002t0003g0287 a0002c0002t0003g0293 a0002c0002t0003g0272 a0002c0002t0003g0287 a0002c0002t0003g0293	3	302	0.0099	40	c.460 others(55): Show c.460-498_460-497insAAGAAGGAAAGAAAGAAAGAAAGAAAGACA GGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAGGAAAG others(33): Show AAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01515.hp1 HG00597.hp2 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0260 a0002c0002t0003g0294 a0002c0002t0003g0260 a0002c0002t0003g0294	2	302	0.0066	40	c.460 others(55): Show c.460-498_460-497insAGGAAAGAAAGAAAGAAAGAAAGACAGGAA GGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	250	0.0040	40	c.286 others(59): Show c.286-25022_286-24983dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66720781	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp2 HG02809.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0009 a0001c0002t0006g0048 a0001c0002t0002g0009 a0001c0002t0006g0048	2	142	0.0141	40	c.-12 others(59): Show c.-122+7962_-122+7963insTATATATATATATATATATATATATA TATATATATATATA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(33): Show GTATATATATATATATGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp2 HG02109.hp2 others(1): Show HG00423.hp2 HG01069.hp2 HG02109.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0002t0003g0220 others(1): Show a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0002t0003g0220 a0001c0002t0003g0227	4	312	0.0128	40	c.-58 others(61): Show c.-589+15189_-589+15190insTATATATATATATATATATATACA CATATATATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGSM1_chr22_24801211_24932578	24900377	T T	TTCTTTCT others(33): Show TTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0123 a0003c0003t0009g0123	1	338	0.0030	40	c.261 others(59): Show c.2611-1449_2611-1448insCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(17): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01106.hp1 HG01106.hp2 HG01346.hp2 HG01978.hp1 HG02165.hp2 HG04115.hp2 NA18612.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp1 NA18965.hp2 NA18968.hp1 NA19064.hp1 NA19066.hp1 NA19081.hp2 NA19084.hp1	a0001 a0006 a0021 a0001 a0006 a0021	a0001c0001 a0001c0032 a0006c0008 others(1): Show a0001c0001 a0001c0032 a0006c0008 a0021c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0032t0001 a0006c0008t0003 a0021c0042t0001	a0001c0001t0001g0009 a0001c0001t0001g0178 a0001c0001t0001g0179 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0177 a0001c0001t0002g0388 a0001c0001t0007g0184 a0001c0032t0001g0188 a0006c0008t0003g0187 a0021c0042t0001g0180	20	422	0.0474	40	c.57+ others(55): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAAA others(33): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01071.hp1 others(2): Show HG00609.hp2 HG01070.hp1 HG01071.hp1 HG01928.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0118 a0001c0002t0002g0132 a0001c0002t0002g0001 a0001c0002t0002g0118 a0001c0002t0002g0132	5	424	0.0118	40	c.-44 others(51): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH3BGR_chr21_39446970_39520504	39499255	C C	CATCTATC others(33): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	302	0.0033	40	c.313 others(55): Show c.313-564_313-563insATCTATCTATCTATCTATCTATCTATCTAT CTATCTATCT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	G G	GTTTCCTT others(33): Show GTTTCCTTTCCTTTCCTTTCCGTTCCGTTCCGTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	260	0.0039	40	c.45+ others(57): Show c.45+43698_45+43699insCTTTCCTTTCCGTTCCGTTCCGTTCCTT TCCTTTCCTTTC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025611	G G	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01123.hp1 HG01168.hp2 others(18): Show HG00673.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02717.hp1 HG02735.hp1 HG03098.hp2 NA18747.hp2 NA18953.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0006	a0001c0001t0002g0018 a0001c0001t0002g0096 a0001c0001t0002g0098 others(14): Show a0001c0001t0002g0018 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0003g0288 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0339 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0006g0015 a0001c0002t0006g0034 a0001c0002t0006g0354	21	436	0.0482	40	c.63+ others(55): Show c.63+2480_63+2481insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025623	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG02074.hp1 others(4): Show HG00738.hp2 HG01243.hp1 HG02074.hp1 HG02074.hp2 HG02738.hp1 NA18946.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 others(4): Show a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055	7	436	0.0161	40	c.63+ others(55): Show c.63+2468_63+2469insGCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025623	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0040 a0001c0002t0016g0040	1	436	0.0023	40	c.63+ others(55): Show c.63+2468_63+2469insGCCTGCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02622.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0057 a0001c0001t0003g0058	2	204	0.0098	40	c.4+1 others(55): Show c.4+13238_4+13239insATATATATATATATATATATATATATATTT TTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	204	0.0049	40	c.4+1 others(55): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT ATTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp1 NA19056.hp1 HG02922.hp2 NA19030.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0001t0041 a0001c0003t0098 a0001c0001t0022 a0001c0001t0041 a0001c0003t0098	a0001c0001t0022g0110 a0001c0001t0041g0239 a0001c0003t0098g0179 a0001c0001t0022g0110 a0001c0001t0041g0239 a0001c0003t0098g0179	3	250	0.0120	40	c.73- others(53): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	C C	CTATCTAT others(33): Show CTATCTATCTATCTATCTATCTATCTATCTATCCTATCTAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0081 a0001c0005t0081	a0001c0005t0081g0216 a0001c0005t0081g0216	1	280	0.0036	40	c.101 others(59): Show c.1013-1323_1013-1322insATAGATAGGATAGATAGATAGATAGA TAGATAGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109249647	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0028 a0001c0003t0020 a0001c0001t0028 a0001c0003t0020	a0001c0001t0028g0044 a0001c0003t0020g0077 a0001c0001t0028g0044 a0001c0003t0020g0077	2	172	0.0116	40	c.574 others(59): Show c.574-98007_574-98006insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(33): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19009.hp1 HG01069.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0118 a0001c0001t0021g0027 a0001c0001t0002g0118 a0001c0001t0021g0027	2	172	0.0116	40	c.214 others(59): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19084.hp1 HG01099.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0044 a0002c0001t0059 a0001c0003t0044 a0002c0001t0059	a0001c0003t0044g0010 a0002c0001t0059g0036 a0001c0003t0044g0010 a0002c0001t0059g0036	2	316	0.0063	40	c.196 others(59): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar

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