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
SELENON_chr1_25795193_25823221	25819427	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0238 a0001c0007t0006g0238	1	392	0.0026	38	c.37 others(49): Show c.3709_*3710insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1207	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0063 a0001c0004t0001g0063	1	392	0.0026	38	c.37 others(49): Show c.3711_*3712insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83390048	C C	CGTATATG others(31): Show CGTATATGTGTATACGTATACACATATATACGCGTATGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03579.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG03579.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0135 a0001c0003t0004g0193 a0001c0003t0004g0194 others(1): Show a0001c0001t0001g0135 a0001c0003t0004g0193 a0001c0003t0004g0194 a0001c0003t0004g0195	4	226	0.0177	38	c.166 others(57): Show c.1667+2506_1667+2507insACATACGCGTATATATGTGTATACGT ATACACATATAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(31): Show TATATATATATATATACACACACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0231 a0001c0001t0005g0231	1	394	0.0025	38	c.553 others(55): Show c.553-3542_553-3541insGTGTATATATATATGTGTGTGTGTATAT ATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19056.hp1 HG02132.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0374 a0001c0001t0001g0365 a0001c0001t0001g0374	2	394	0.0051	38	c.553 others(55): Show c.553-3542_553-3541insGTGTGTGTGTATATATATATATATATAT ATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02071.hp2 NA18941.hp2 others(2): Show HG01074.hp2 HG02071.hp2 NA18941.hp2 NA19063.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 others(2): Show a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0379 a0001c0001t0003g0269	5	394	0.0127	38	c.553 others(55): Show c.553-3542_553-3541insGTGTGTGTATATATATATATATATATAT ATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 NA19004.hp1 others(2): Show HG01167.hp2 HG01169.hp2 NA19004.hp1 NA19060.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0355 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0355 a0001c0001t0001g0364 a0001c0001t0001g0378	5	394	0.0127	38	c.553 others(55): Show c.553-3542_553-3541insGTGTGTATATATATATATATATATATAT ATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG01257.hp1 others(9): Show HG00673.hp2 HG01243.hp1 HG01257.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02683.hp2 HG03017.hp1 HG04184.hp1 NA18984.hp1 NA19063.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0009 a0001c0001t0001g0057 a0001c0001t0001g0100 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0057 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0380 a0001c0001t0001g0382 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0251 a0001c0001t0013g0022	12	394	0.0305	38	c.553 others(55): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT ATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP7_chr3_101319205_101518212	101463400	T T	TATATATA others(31): Show TATATATATATATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	370	0.0027	38	c.187 others(55): Show c.187-4349_187-4348insGTGTATATATATATATATATGTGTATAT ATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02970.hp2 HG01081.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0055 a0001c0001t0021 a0001c0001t0055	a0001c0001t0021g0233 a0001c0001t0055g0065 a0001c0001t0021g0233 a0001c0001t0055g0065	2	368	0.0054	38	c.92 others(49): Show c.9279_*9280insATATATATATATATATATATATATTTTTTTTTTT TTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0238 a0001c0001t0080g0238	1	368	0.0027	38	c.92 others(49): Show c.9279_*9280insATATATATATATATATATATATATATTTTTTTTT TTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0184 a0001c0001t0067g0184	1	368	0.0027	38	c.92 others(49): Show c.9279_*9280insATATATATATATATATATATATATATATATTTTT TTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 NA18959.hp1 HG01978.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0098 a0001c0001t0002g0104	2	366	0.0055	38	c.37 others(49): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERPINA11_chr14_94437464_94457800	94449501	C C	CTGTCTTT others(31): Show CTGTCTTTCTTTCTCTTTCTTTCTTTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02486.hp1 HG01123.hp1 HG02486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0190 a0003c0003t0001g0263 a0001c0001t0001g0190 a0003c0003t0001g0263	2	452	0.0044	38	c.-3- others(51): Show c.-3-725_-3-724insAAGAAAGAAAGAAAAAGAAAGAAAGAGAAAGA AAGACA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03654.hp2 NA19075.hp1 HG01981.hp1 HG03654.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0062 a0001c0001t0001g0168 a0001c0001t0008g0148 a0001c0001t0001g0062 a0001c0001t0001g0168 a0001c0001t0008g0148	3	402	0.0075	38	c.304 others(53): Show c.304-519_304-518insTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCT	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(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02080.hp1 HG02109.hp1 others(5): Show HG00741.hp2 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp2 HG03486.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 a0001c0001t0051	a0001c0001t0002g0033 a0001c0001t0002g0094 a0001c0001t0003g0064 others(4): Show a0001c0001t0002g0033 a0001c0001t0002g0094 a0001c0001t0003g0064 a0001c0001t0003g0138 a0001c0001t0008g0095 a0001c0001t0016g0055 a0001c0001t0051g0093	8	438	0.0183	38	c.-17 others(57): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18985.hp1 NA18998.hp2 NA18977.hp2 NA18985.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0123 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0123	3	290	0.0103	38	c.676 others(55): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	328	0.0031	38	c.124 others(55): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7186459	C C	CACACACA others(31): Show CACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0008 a0001c0001t0013g0116 a0001c0001t0013g0008 a0001c0001t0013g0116	2	144	0.0139	38	c.180 others(57): Show c.1808+2164_1808+2165insATATATATATATATATATATATGTGT GTGTGTGTGTGT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	16/20			chr10	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01884.hp1 HG02257.hp1 others(2): Show HG01517.hp1 HG01884.hp1 HG02257.hp1 HG02622.hp2 NA19009.hp2	a0000 a0001 a0011 a0000 a0001 a0011	a0000c0005 a0001c0001 a0001c0002 others(1): Show a0000c0005 a0001c0001 a0001c0002 a0011c0013	a0000c0005t0001 a0001c0001t0001 a0001c0002t0001 others(1): Show a0000c0005t0001 a0001c0001t0001 a0001c0002t0001 a0011c0013t0001	a0000c0005t0001g0120 a0001c0001t0001g0070 a0001c0001t0001g0079 others(2): Show a0000c0005t0001g0120 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0002t0001g0297 a0011c0013t0001g0111	5	318	0.0157	38	c.240 others(57): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN5_chr2_72937036_73076712	73047285	T T	TACACACA others(31): Show TACACACATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	250	0.0040	38	c.172 others(55): Show c.172-6355_172-6354insGTGTGTATATATATATATATATATATAT ATATGTGTGT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(31): Show GCGCGCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	250	0.0040	38	c.171 others(55): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19066.hp2 NA19090.hp2 others(2): Show NA19057.hp1 NA19066.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0051 a0001c0002t0002 a0001c0002t0004 a0001c0002t0051	a0001c0002t0002g0069 a0001c0002t0002g0087 a0001c0002t0002g0102 others(2): Show a0001c0002t0002g0069 a0001c0002t0002g0087 a0001c0002t0002g0102 a0001c0002t0004g0079 a0001c0002t0051g0099	5	150	0.0333	38	c.192 others(55): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	14551447	T T	TATATATA others(31): Show TATATATATAATATATATATTATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0048 a0002c0002t0007g0048	1	102	0.0098	38	c.234 others(55): Show c.234+3284_234+3285insTATATATATAATATATATAATATATATA TTATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551473	T T	TTATATAT others(31): Show TTATATATATAATATATATAATATATATTATATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0097 a0001c0001t0058g0097	1	102	0.0098	38	c.234 others(55): Show c.234+3258_234+3259insTTATATATATAATATATATTATATATAT TATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551473	T T	TTATATAT others(31): Show TTATATATATAATATATATTATATATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0093 a0001c0001t0078g0093	1	102	0.0098	38	c.234 others(55): Show c.234+3258_234+3259insTATTATATATAATATATATAATATATAT TATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551473	T T	TTATATAT others(31): Show TTATATATATAATATATATTATATATATTATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02897.hp1 HG02976.hp2 others(5): Show HG01109.hp1 HG02897.hp1 HG02976.hp2 HG03195.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0028 a0001c0001t0040 others(5): Show a0001c0001t0020 a0001c0001t0028 a0001c0001t0040 a0001c0001t0063 a0001c0001t0064 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089	a0001c0001t0020g0025 a0001c0001t0028g0006 a0001c0001t0040g0038 others(5): Show a0001c0001t0020g0025 a0001c0001t0028g0006 a0001c0001t0040g0038 a0001c0001t0063g0094 a0001c0001t0064g0069 a0001c0001t0085g0059 a0001c0001t0086g0078 a0001c0001t0089g0050	8	102	0.0784	38	c.234 others(55): Show c.234+3258_234+3259insTTATATATATAATATATATAATATATAT TATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645464	T T	TTATATAT others(31): Show TTATATATATATATTTATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp2 HG02895.hp1 others(1): Show HG00738.hp2 HG02055.hp2 HG02895.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0042 a0001c0001t0074 others(1): Show a0001c0001t0030 a0001c0001t0042 a0001c0001t0074 a0001c0001t0087	a0001c0001t0030g0034 a0001c0001t0042g0040 a0001c0001t0074g0098 others(1): Show a0001c0001t0030g0034 a0001c0001t0042g0040 a0001c0001t0074g0098 a0001c0001t0087g0088	4	102	0.0392	38	c.40- others(55): Show c.40-90539_40-90538insTATAAATATATATATATATATATAAATA TATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(31): Show TTATATATATATATATATATTTATATATATATATATTTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	102	0.0098	38	c.40- others(55): Show c.40-90553_40-90552insTAAATATATATATATATAAATATATATA TATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(31): Show AAAGAAAGAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	302	0.0033	38	c.75- others(53): Show c.75-2165_75-2164insAGAAAGAAGAGGGAGGGAGGGAGGGAGGGA GGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK3_chr8_66707781_66867022	66720781	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0141 a0001c0002t0002g0142	2	142	0.0141	38	c.-12 others(57): Show c.-122+7962_-122+7963insTATATATATATATATATATATATATA TATATATATATA	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(31): Show GTATATATATATATATGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp2 NA18945.hp2 others(4): Show HG00741.hp1 HG01361.hp2 NA18945.hp2 NA18981.hp1 NA18992.hp1 NA19004.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0003g0224 others(4): Show a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0003g0224 a0001c0001t0003g0236 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0243	7	312	0.0224	38	c.-58 others(59): Show c.-589+15189_-589+15190insTATATATATATATATATATACACA TATATATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGSM1_chr22_24801211_24932578	24900381	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0119 a0003c0003t0003g0119	1	338	0.0030	38	c.261 others(57): Show c.2611-1425_2611-1424insTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCT	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(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01981.hp2 NA18941.hp2 others(7): Show HG00438.hp2 HG01981.hp2 NA18941.hp2 NA18951.hp1 NA18973.hp1 NA18973.hp2 NA18984.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0009c0021t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(7): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0002g0170 a0001c0001t0007g0173 a0001c0001t0008g0175 a0009c0021t0001g0174	10	422	0.0237	38	c.57+ others(53): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	424	0.0024	38	c.-44 others(49): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH3BGR_chr21_39446970_39520504	39481669	A A	AAATTAAT others(31): Show AAATTAATAATTTTTATTAATAATTTTATTAATAATTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0225 a0005c0005t0001g0225	1	302	0.0033	38	c.312 others(55): Show c.312+6465_312+6466insTTTATTAATAATTTTATTAATAATTTTA ATTAATAATT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19064.hp2 HG02155.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0153 a0001c0002t0001g0128 a0001c0001t0001g0153 a0001c0002t0001g0128	2	376	0.0053	38	c.769 others(55): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17623039	T T	TCCTTTCC others(31): Show TCCTTTCCTTTCCTTTCCTTTCCTTCCCCTTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	260	0.0039	38	c.45+ others(55): Show c.45+43756_45+43757insTCCTTTCCTTTCCTTTCCTTCCCCTTCC CCTTCCCCTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	204	0.0049	38	c.4+1 others(53): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT ATTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18944.hp2 NA18979.hp1 others(2): Show HG03209.hp2 NA18944.hp2 NA18979.hp1 NA19012.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0113 a0001c0002t0002 a0001c0003t0094 others(1): Show a0001c0001t0113 a0001c0002t0002 a0001c0003t0094 a0001c0004t0013	a0001c0001t0113g0230 a0001c0002t0002g0030 a0001c0003t0094g0182 others(2): Show a0001c0001t0113g0230 a0001c0002t0002g0030 a0001c0003t0094g0182 a0001c0004t0013g0198 a0001c0004t0013g0200	5	250	0.0200	38	c.73- others(51): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01169.hp2 HG02080.hp1 others(1): Show HG00423.hp1 HG01169.hp2 HG02080.hp1 HG02523.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0072 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0072 a0002c0002t0013	a0001c0001t0002g0070 a0001c0001t0003g0092 a0001c0001t0072g0136 others(1): Show a0001c0001t0002g0070 a0001c0001t0003g0092 a0001c0001t0072g0136 a0002c0002t0013g0166	4	172	0.0233	38	c.214 others(57): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8211394	C C	CTCTCCCT others(31): Show CTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00733.hp2 others(17): Show HG00558.hp2 HG00639.hp1 HG00733.hp2 HG01074.hp2 HG01884.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG03139.hp1 HG03516.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp2 NA18979.hp2 NA19060.hp2 NA19081.hp1 NA19085.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0089 a0001c0090 others(6): Show a0001c0002 a0001c0089 a0001c0090 a0002c0005 a0002c0006 a0002c0012 a0002c0014 a0003c0010 a0004c0035	a0001c0002t0001 a0001c0089t0001 a0001c0090t0001 others(6): Show a0001c0002t0001 a0001c0089t0001 a0001c0090t0001 a0002c0005t0002 a0002c0006t0001 a0002c0012t0002 a0002c0014t0001 a0003c0010t0001 a0004c0035t0001	a0001c0002t0001g0097 a0001c0002t0001g0173 a0001c0002t0001g0342 others(17): Show a0001c0002t0001g0097 a0001c0002t0001g0173 a0001c0002t0001g0342 a0001c0002t0001g0347 a0001c0089t0001g0024 a0001c0090t0001g0025 a0002c0005t0002g0026 a0002c0005t0002g0027 a0002c0005t0002g0172 a0002c0005t0002g0194 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0216 a0002c0005t0002g0218 a0002c0006t0001g0023 a0002c0012t0002g0315 a0002c0014t0001g0090 a0003c0010t0001g0021 a0004c0035t0001g0126 a0004c0035t0001g0153	20	374	0.0535	38	c.248 others(55): Show c.248-1304_248-1303insCCCTCCCTCTCCACCCTCCTCACCGTTG TCTCCCTTCT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3YL1_chr2_213144_269032	235701	A A	AGCATGGG others(31): Show AGCATGGGCCAGGGGAGGCAGCAGCACGGGTCAGGGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00741.hp1 others(22): Show HG00323.hp2 HG00738.hp1 HG00741.hp1 HG01175.hp1 HG01192.hp2 HG01891.hp2 HG01975.hp2 HG02257.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03490.hp2 HG04199.hp2 NA18939.hp2 NA18969.hp1 NA18982.hp2 NA18991.hp1 NA19005.hp1 NA19007.hp1 NA19068.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0008 a0001c0002t0002 a0001c0006t0002 a0001c0001t0008 a0001c0002t0002 a0001c0006t0002	a0001c0001t0008g0253 a0001c0002t0002g0003 a0001c0002t0002g0004 others(16): Show a0001c0001t0008g0253 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0046 a0001c0002t0002g0199 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0221 a0001c0002t0002g0227 a0001c0002t0002g0230 a0001c0002t0002g0235 a0001c0002t0002g0242 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0006t0002g0218	25	360	0.0694	38	c.292 others(55): Show c.292-1430_292-1429insCTCCCCTGACCCGTGCTGCTGCCTCCCC TGGCCCATGC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SH3YL1_chr2_213144_269032	235742	A A	AGCAGCAC others(31): Show AGCAGCACGGGCCAGGGGAGGCAGCATGGGCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00741.hp1 others(22): Show HG00323.hp2 HG00738.hp1 HG00741.hp1 HG01175.hp1 HG01192.hp2 HG01891.hp2 HG01975.hp2 HG02257.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03490.hp2 HG04199.hp2 NA18939.hp2 NA18969.hp1 NA18982.hp2 NA18991.hp1 NA19005.hp1 NA19007.hp1 NA19068.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0008 a0001c0002t0002 a0001c0006t0002 a0001c0001t0008 a0001c0002t0002 a0001c0006t0002	a0001c0001t0008g0253 a0001c0002t0002g0003 a0001c0002t0002g0004 others(16): Show a0001c0001t0008g0253 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0046 a0001c0002t0002g0199 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0221 a0001c0002t0002g0227 a0001c0002t0002g0230 a0001c0002t0002g0235 a0001c0002t0002g0242 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0006t0002g0218	25	360	0.0694	38	c.292 others(55): Show c.292-1471_292-1470insCTCCCCTGGCCCATGCTGCCTCCCCTGG CCCGTGCTGC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GATGGGGA others(31): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03927.hp1 HG02523.hp2 HG03927.hp1	a0002 a0002	a0002c0001 a0002c0008 a0002c0001 a0002c0008	a0002c0001t0027 a0002c0008t0003 a0002c0001t0027 a0002c0008t0003	a0002c0001t0027g0029 a0002c0008t0003g0205 a0002c0001t0027g0029 a0002c0008t0003g0205	2	316	0.0063	38	c.257 others(57): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50679067	A A	ATGATGGG others(31): Show ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(63): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp1 NA18951.hp2 NA18962.hp1 NA18997.hp2 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0010 others(5): Show a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0015 a0001c0020 a0002c0001 a0004c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(35): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0021 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0040 a0001c0002t0041 a0001c0002t0050 a0001c0002t0052 a0001c0002t0083 a0001c0002t0084 a0001c0002t0091 a0001c0002t0095 a0001c0002t0104 a0001c0003t0001 a0001c0003t0079 a0001c0003t0112 a0001c0010t0004 a0001c0012t0001 a0001c0012t0014 a0001c0015t0001 a0001c0020t0008 a0002c0001t0056 a0002c0001t0087 a0004c0017t0001	a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0096 others(62): Show a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0119 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0250 a0001c0002t0002g0108 a0001c0002t0002g0258 a0001c0002t0003g0056 a0001c0002t0003g0157 a0001c0002t0003g0196 a0001c0002t0003g0276 a0001c0002t0005g0161 a0001c0002t0005g0257 a0001c0002t0005g0259 a0001c0002t0006g0109 a0001c0002t0006g0140 a0001c0002t0006g0236 a0001c0002t0006g0238 a0001c0002t0006g0277 a0001c0002t0007g0269 a0001c0002t0009g0099 a0001c0002t0009g0131 a0001c0002t0009g0171 a0001c0002t0009g0180 a0001c0002t0009g0222 a0001c0002t0010g0197 a0001c0002t0011g0081 a0001c0002t0014g0198 a0001c0002t0015g0138 a0001c0002t0016g0112 a0001c0002t0018g0127 a0001c0002t0021g0021 a0001c0002t0030g0132 a0001c0002t0030g0246 a0001c0002t0031g0210 a0001c0002t0031g0227 a0001c0002t0033g0302 a0001c0002t0033g0306 a0001c0002t0034g0002 a0001c0002t0040g0009 a0001c0002t0041g0016 a0001c0002t0050g0027 a0001c0002t0052g0025 a0001c0002t0083g0229 a0001c0002t0084g0130 a0001c0002t0091g0115 a0001c0002t0095g0070 a0001c0002t0104g0307 a0001c0003t0001g0061 a0001c0003t0079g0142 a0001c0003t0112g0315 a0001c0010t0004g0183 a0001c0010t0004g0184 a0001c0012t0001g0106 a0001c0012t0014g0105 a0001c0015t0001g0101 a0001c0020t0008g0260 a0002c0001t0056g0032 a0002c0001t0087g0095 a0004c0017t0001g0001	66	316	0.2089	38	c.257 others(57): Show c.2578-6991_2578-6954dupCCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG04184.hp2 HG00735.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0105 a0001c0002t0003 a0001c0002t0105	a0001c0002t0003g0196 a0001c0002t0105g0304 a0001c0002t0003g0196 a0001c0002t0105g0304	2	316	0.0063	38	c.196 others(57): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692472	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0002 a0002c0001t0005	a0002c0001t0002g0125 a0002c0001t0005g0128 a0002c0001t0002g0125 a0002c0001t0005g0128	2	316	0.0063	38	c.196 others(57): Show c.1965-3194_1965-3193insGTGTATATATATATATATATATATAT ATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG01167.hp2 others(37): Show HG00140.hp2 HG01099.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02145.hp2 HG02273.hp1 HG02602.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp2 HG03471.hp1 HG03710.hp2 HG03927.hp1 HG04228.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18953.hp2 NA18954.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18986.hp1 NA18992.hp2 NA18999.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0006c0009 a0001c0001 a0001c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0006t0001 a0006c0009t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 others(37): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0323 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0002g0351 a0001c0001t0016g0007 a0001c0006t0001g0228 a0001c0006t0001g0318 a0006c0009t0001g0103	40	384	0.1042	38	c.657 others(57): Show c.657-17030_657-17029insTATACACACACACACACATATATATA TATACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18957.hp2 NA18961.hp1 others(3): Show NA18949.hp2 NA18957.hp2 NA18961.hp1 NA18987.hp2 NA19011.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0299 a0001c0001t0001g0308 others(3): Show a0001c0001t0001g0225 a0001c0001t0001g0299 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0322	6	384	0.0156	38	c.657 others(57): Show c.657-17030_657-17029insTACACACACACACACACATATATATA TATACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar

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