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
SEMA5A_chr5_9030033_9551075	9516461	CCCGTATA others(22): Show CCCGTATAGTCAGCTGTGAAGGTTATAACG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01243.hp2 others(11): Show HG00140.hp2 HG00741.hp2 HG01243.hp2 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2 NA18906.hp2 NA18944.hp2 NA19068.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0002c0014 a0003c0020	a0001c0001t0001 a0001c0001t0032 a0001c0001t0046 others(10): Show a0001c0001t0001 a0001c0001t0032 a0001c0001t0046 a0001c0001t0054 a0001c0001t0056 a0001c0003t0019 a0001c0003t0051 a0001c0004t0001 a0001c0006t0043 a0001c0007t0016 a0001c0008t0001 a0002c0014t0057 a0003c0020t0071	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0032g0067 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0032g0067 a0001c0001t0046g0023 a0001c0001t0054g0094 a0001c0001t0056g0096 a0001c0003t0019g0104 a0001c0003t0051g0079 a0001c0004t0001g0020 a0001c0006t0043g0007 a0001c0007t0016g0095 a0001c0008t0001g0046 a0002c0014t0057g0087 a0003c0020t0071g0108	14	134	0.1045	-29	c.-17 others(50): Show c.-175+29094_-175+29122delCGTTATAACCTTCACAGCTGACTA TACGG	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	1/22			chr5	TogoVar
SEPTIN10_chr2_109537799_109618966	109570605	ACCTCCGC others(22): Show ACCTCCGCCTCCCAAGTTCAAGCAATTCTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00673.hp2 others(65): Show HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03831.hp2 NA18940.hp2 NA18947.hp1 NA18949.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp2 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19076.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(61): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073	68	404	0.1683	-29	c.601 others(46): Show c.601-2658_601-2630delCAGAATTGCTTGAACTTGGGAGGCGGAG G	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	5/10			chr2	TogoVar
SEPTIN7_chr7_35796057_35912110	35838319	TCCCTCCC others(22): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01928.hp1 others(8): Show HG00738.hp1 HG01081.hp1 HG01928.hp1 HG01981.hp2 HG02257.hp1 HG02886.hp1 HG02965.hp1 HG03239.hp2 HG03942.hp1 NA18969.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 a0001c0001t0036	a0001c0001t0004g0171 a0001c0001t0005g0010 a0001c0001t0005g0192 others(8): Show a0001c0001t0004g0171 a0001c0001t0005g0010 a0001c0001t0005g0192 a0001c0001t0005g0198 a0001c0001t0005g0200 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0205 a0001c0001t0005g0209 a0001c0001t0026g0204 a0001c0001t0036g0201	11	346	0.0318	-29	c.169 others(46): Show c.169+5422_169+5450delCTCCCTCCCTCCCTCCCTCCCTCCCTCC C	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERHL2_chr22_42548956_42579382	42552875	GGGCTACA others(22): Show GGGCTACAAAGCGAGACTCTGTTTCAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02896.hp2 HG03195.hp1 HG02145.hp2 HG02896.hp2 HG03195.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0007 a0003c0007t0001 a0003c0007t0007	a0003c0007t0001g0177 a0003c0007t0001g0178 a0003c0007t0007g0032 a0003c0007t0001g0177 a0003c0007t0001g0178 a0003c0007t0007g0032	3	432	0.0069	-29	c.-11 others(40): Show c.-1145_-1117delGGCTACAAAGCGAGACTCTGTTTCAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding		1080		chr22	TogoVar
SERHL2_chr22_42548956_42579382	42570537	TCGTGTCA others(22): Show TCGTGTCACACCTACAGCACATCTCACTCA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	432	0.0023	-29	c.649 others(44): Show c.649-583_649-555delCGTGTCACACCTACAGCACATCTCACTCA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	9/11			chr22	TogoVar
SERPINA11_chr14_94437464_94457800	94449390	CTCTTTCT others(22): Show CTCTTTCTTTCTTTCTATTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG00741.hp2 others(6): Show HG00099.hp2 HG00741.hp1 HG00741.hp2 HG01243.hp1 HG01517.hp1 NA18997.hp2 NA19057.hp2 NA19091.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0215 a0002c0002t0001g0063 a0002c0002t0001g0075 others(6): Show a0001c0001t0001g0215 a0002c0002t0001g0063 a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0096 a0002c0002t0001g0113 a0002c0002t0001g0118 a0002c0002t0001g0130 a0002c0002t0001g0159	9	452	0.0199	-29	c.-3- others(42): Show c.-3-642_-3-614delAAGAAAGAAAGAATAGAAAGAAAGAAAGA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA1_chr14_94371747_94393602	94386851	TTACTAAC others(22): Show TTACTAACACCTGGTGTTTTACAGGCACCG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	443	0.0023	-29	c.-5+ others(44): Show c.-5+1680_-5+1708delCGGTGCCTGTAAAACACCAGGTGTTAGTA	SERPINA1	ENSG00000197249.14	transcript	ENST00000393087.9	protein_coding	1/4			chr14	TogoVar
SERPINB9_chr6_2882270_2908309	2907557	GTGTGTGT others(22): Show GTGTGTGTGCTCGAGTACGTGTGTCGATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0354 a0001c0001t0010g0354	1	462	0.0022	-29	c.-43 others(40): Show c.-4396_-4368delACATCGACACACGTACTCGAGCACACACA	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding		4249		chr6	TogoVar
SERTAD2_chr2_64626621_64658913	64653989	CCCCCGCC others(22): Show CCCCCGCCGGCCCCGCCCCGGCCCGCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	424	0.0024	-29	c.-40 others(38): Show c.-403_-375delAGAGGCGGGCCGGGGCGGGGCCGGCGGGG	SERTAD2	ENSG00000179833.4	transcript	ENST00000313349.3	protein_coding		77		chr2	TogoVar
SETBP1_chr18_44675888_45073510	44989879	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	140	0.0071	-29	c.400 others(50): Show c.4000+36540_4000+36568delAAAAAAAAAAAAAAAAAAAAAAAA AAAAT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5			chr18	TogoVar
SETD1B_chr12_121799009_121837656	121812430	AGCACAGG others(22): Show AGCACAGGACCTCAGCTTAAGTGAGGTGCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG02572.hp1 others(9): Show HG01243.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02976.hp1 HG03486.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0021 a0001c0001 a0002c0004 a0004c0021	a0001c0001t0002 a0002c0004t0002 a0004c0021t0002 a0001c0001t0002 a0002c0004t0002 a0004c0021t0002	a0001c0001t0002g0010 a0001c0001t0002g0119 a0001c0001t0002g0120 others(9): Show a0001c0001t0002g0010 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0002c0004t0002g0010 a0004c0021t0002g0010 a0004c0021t0002g0123	12	262	0.0458	-29	c.189 others(48): Show c.1890+1604_1890+1632delCCTCAGCTTAAGTGAGGTGCCGCACA GGA	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEZ6L_chr22_26164462_26388596	26387722	GTGTGGTG others(22): Show GTGTGGTGTGTGTGTGTGTGTGTGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02886.hp2 HG03041.hp1 HG02257.hp2 HG02886.hp2 HG03041.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0011 a0003c0004 a0005c0011	a0003c0004t0012 a0003c0004t0031 a0005c0011t0012 a0003c0004t0012 a0003c0004t0031 a0005c0011t0012	a0003c0004t0012g0017 a0003c0004t0031g0022 a0005c0011t0012g0104 a0003c0004t0012g0017 a0003c0004t0031g0022 a0005c0011t0012g0104	3	240	0.0125	-29	c.74 others(40): Show c.7428_*7456delTGTGGTGTGTGTGTGTGTGTGTGTGTGGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding		4127		chr22	TogoVar
SF3B2_chr11_66047364_66074308	66052103	CGCCGGCC others(22): Show CGCCGGCCTTCGGGGCCGTAGCGGCGCGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	394	0.0025	-29	c.-28 others(38): Show c.-281_-253delGCCGGCCTTCGGGGCCGTAGCGGCGCGCA	SF3B2	ENSG00000087365.16	transcript	ENST00000322535.11	protein_coding		260		chr11	TogoVar
SFI1_chr22_31491536_31623588	31568183	GTGTGTGT others(22): Show GTGTGTGTGTGTTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	322	0.0031	-29	c.766 others(46): Show c.766-4873_766-4845delGTGTGTGTGTTGTGTGTGTGTGTGTGTA T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFXN1_chr5_175473560_175534742	175524116	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0356 a0001c0002t0034g0356	1	372	0.0027	-29	c.872 others(46): Show c.872+1696_872+1724delAAAAAAAAATATATATATATATATATAT A	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	14496115	TAGTGCAG others(22): Show TAGTGCAGTGGCGTGATCATGGCTCACTGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01109.hp1 others(13): Show HG00642.hp2 HG00738.hp1 HG01109.hp1 HG01346.hp1 HG01993.hp1 HG02109.hp1 HG02486.hp2 HG02622.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG04204.hp1 NA18906.hp2 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 others(12): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0034 a0001c0001t0040 a0001c0001t0045 a0001c0001t0061 a0001c0001t0065 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0002c0002t0004	a0001c0001t0006g0092 a0001c0001t0011g0042 a0001c0001t0013g0026 others(13): Show a0001c0001t0006g0092 a0001c0001t0011g0042 a0001c0001t0013g0026 a0001c0001t0015g0005 a0001c0001t0024g0031 a0001c0001t0034g0030 a0001c0001t0040g0038 a0001c0001t0045g0008 a0001c0001t0061g0049 a0001c0001t0065g0047 a0001c0001t0082g0063 a0001c0001t0083g0057 a0001c0001t0086g0078 a0001c0001t0087g0088 a0002c0002t0004g0027 a0002c0002t0004g0039	16	102	0.1569	-29	c.234 others(48): Show c.234+58588_234+58616delGCAGTGAGCCATGATCACGCCACTGC ACT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGK1_chr6_134164256_134323112	134206363	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp2 HG02258.hp1 HG03041.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0162 a0005c0008t0001g0034 a0001c0001t0001g0162 a0005c0008t0001g0034	2	250	0.0080	-29	c.361 others(44): Show c.361+964_361+992delAAAAAAAAATATATATATATATATATATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGPP1_chr14_63679216_63733065	63718994	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18961.hp2 NA18990.hp1 others(2): Show HG00323.hp1 NA18961.hp2 NA18990.hp1 NA19003.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0243	5	288	0.0174	-29	c.684 others(46): Show c.684+8238_684+8266delAAAAAAAAATATATATATATATATATAT A	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2			chr14	TogoVar
SH2D6_chr2_85413714_85442029	85419563	GTTACACC others(22): Show GTTACACCTGTATCGGGAGCAGTGACACCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	418	0.0024	-29	c.-57 others(46): Show c.-577+320_-577+348delTTACACCTGTATCGGGAGCAGTGACACC A	SH2D6	ENSG00000152292.18	transcript	ENST00000469800.7	protein_coding	2/23			chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038311	ATTATATA others(22): Show ATTATATATTATATATATATTATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03195.hp2 HG03540.hp2 others(1): Show HG03098.hp2 HG03195.hp2 HG03540.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0004 a0005c0009t0001 a0001c0002t0004 a0005c0009t0001	a0001c0002t0004g0286 a0005c0009t0001g0131 a0005c0009t0001g0284 others(1): Show a0001c0002t0004g0286 a0005c0009t0001g0131 a0005c0009t0001g0284 a0005c0009t0001g0285	4	348	0.0115	-29	c.119 others(46): Show c.119-2576_119-2548delTTATATATTATATATATATTATATATAG T	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5			chr2	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348638	GTATCTAT others(22): Show GTATCTATCTATCTATCCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02622.hp2 others(3): Show HG02257.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0048 a0001c0001t0075 a0001c0001t0011 a0001c0001t0048 a0001c0001t0075	a0001c0001t0011g0266 a0001c0001t0011g0269 a0001c0001t0011g0270 others(3): Show a0001c0001t0011g0266 a0001c0001t0011g0269 a0001c0001t0011g0270 a0001c0001t0011g0271 a0001c0001t0048g0026 a0001c0001t0075g0210	6	280	0.0214	-29	c.101 others(48): Show c.1013-1335_1013-1307delGATAGATAGATAGGATAGATAGATAG ATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439263	ACAAAAAC others(22): Show ACAAAAACAAAAACAAAACAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0191 a0001c0001t0021g0191	1	280	0.0036	-29	c.75+ others(46): Show c.75+14986_75+15014delGTTTTTTTTTTGTTTTGTTTTTGTTTTT G	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109199481	AATGGAAT others(22): Show AATGGAATGGAATGGATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02895.hp1 HG01175.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0047 a0001c0005t0017 a0001c0001t0047 a0001c0005t0017	a0001c0001t0047g0046 a0001c0005t0017g0111 a0001c0001t0047g0046 a0001c0005t0017g0111	2	172	0.0116	-29	c.573 others(48): Show c.573+69384_573+69412delTGGAATGGAATGGGATGGAATGGAAT GGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	438436	GGCGTCCT others(22): Show GGCGTCCTGGCCCCTGCAGGGTGCTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0003 a0005c0009t0005 a0001c0001t0003 a0005c0009t0005	a0001c0001t0003g0171 a0005c0009t0005g0048 a0001c0001t0003g0171 a0005c0009t0005g0048	2	212	0.0094	-29	c.720 others(44): Show c.720+253_720+281delTGCTCAGCACCCTGCAGGGGCCAGGACGC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	4/12			chr19	TogoVar
SHC2_chr19_411589_466033	459184	TGTAGGGG others(22): Show TGTAGGGGGAAGGACCCCACTGAACCCAGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02922.hp2 others(5): Show HG02559.hp1 HG02572.hp1 HG02922.hp2 HG02970.hp1 HG03209.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0009 a0001c0001 a0001c0007 a0005c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0007t0006 a0005c0009t0005	a0001c0001t0002g0052 a0001c0001t0003g0050 a0001c0001t0005g0053 others(5): Show a0001c0001t0002g0052 a0001c0001t0003g0050 a0001c0001t0005g0053 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0054 a0001c0007t0006g0055 a0005c0009t0005g0048	8	212	0.0377	-29	c.468 others(46): Show c.468+1316_468+1344delGCTGGGTTCAGTGGGGTCCTTCCCCCTA C	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	459324	CCCAGCGT others(22): Show CCCAGCGTAGGGGGAAGGACCCCACTGAAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 NA18942.hp1 others(2): Show HG02451.hp2 HG02486.hp1 NA18942.hp1 NA19043.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0009 a0001c0001 a0001c0007 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0007t0006 a0005c0009t0014	a0001c0001t0001g0081 a0001c0001t0002g0039 a0001c0001t0011g0038 others(2): Show a0001c0001t0001g0081 a0001c0001t0002g0039 a0001c0001t0011g0038 a0001c0007t0006g0037 a0005c0009t0014g0040	5	212	0.0236	-29	c.468 others(46): Show c.468+1176_468+1204delCTTCAGTGGGGTCCTTCCCCCTACGCTG G	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	459441	CCAGCGTA others(22): Show CCAGCGTAGGGGGAAGGACCCCTCTCAACT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 NA19043.hp1 others(1): Show HG02451.hp2 HG02486.hp1 NA19043.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0009 a0001c0001 a0001c0007 a0005c0009	a0001c0001t0002 a0001c0001t0011 a0001c0007t0006 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0007t0006 a0005c0009t0014	a0001c0001t0002g0039 a0001c0001t0011g0038 a0001c0007t0006g0037 others(1): Show a0001c0001t0002g0039 a0001c0001t0011g0038 a0001c0007t0006g0037 a0005c0009t0014g0040	4	212	0.0189	-29	c.468 others(46): Show c.468+1059_468+1087delAGTTGAGAGGGGTCCTTCCCCCTACGCT G	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	459524	CAACTCAG others(22): Show CAACTCAGTGTAGAGGGAAGGACCCTACTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02622.hp2 others(5): Show HG01891.hp1 HG02145.hp2 HG02622.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013	a0001c0001t0005 a0001c0001t0007 a0001c0005t0006 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0005t0006 a0001c0005t0015 a0001c0007t0003 a0001c0013t0005	a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 others(5): Show a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0007g0041 a0001c0005t0006g0009 a0001c0005t0015g0008 a0001c0007t0003g0030 a0001c0013t0005g0007	8	212	0.0377	-29	c.468 others(45): Show c.468+976_468+1004delCAGTAGGGTCCTTCCCTCTACACTGAGTT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182924696	GAAAGGAA others(22): Show GAAAGGAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	302	0.0033	-29	c.118 others(48): Show c.1182+4922_1182+4950delTCTTTCTTTCTTTCTTTCTTTCTTCC TTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952178	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0045 a0005c0005t0001g0045	1	302	0.0033	-29	c.405 others(44): Show c.405+522_405+550delATATATATATATATATTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952180	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	302	0.0033	-29	c.405 others(44): Show c.405+520_405+548delATATATATATATATATATTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952184	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01261.hp2 others(1): Show HG00140.hp2 HG01070.hp2 HG01261.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 others(1): Show a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040	4	302	0.0133	-29	c.405 others(44): Show c.405+516_405+544delATATATATATATATATATATATTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHISA6_chr17_11236213_11569063	11442314	ACCCGCCA others(22): Show ACCCGCCAATCGAGACCCTTAGGTTTCTGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp2 HG01496.hp2 others(17): Show HG00140.hp1 HG01071.hp2 HG01496.hp2 HG01515.hp2 HG02040.hp1 HG02040.hp2 HG02165.hp2 HG02738.hp2 HG02818.hp2 HG03017.hp1 HG03209.hp1 HG03492.hp1 HG03492.hp2 HG03927.hp2 HG04199.hp1 NA18944.hp1 NA18973.hp1 NA18989.hp2 NA19056.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0033 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0013t0029	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0059 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0001t0002g0062 a0001c0001t0003g0045 a0001c0001t0003g0053 a0001c0001t0003g0127 a0001c0001t0003g0148 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0004g0014 a0001c0001t0004g0161 a0001c0001t0006g0170 a0001c0001t0010g0064 a0001c0001t0010g0159 a0001c0001t0033g0173 a0001c0002t0001g0190 a0001c0002t0006g0097 a0001c0002t0007g0103 a0001c0013t0029g0021	20	192	0.1042	-29	c.895 others(48): Show c.895+62808_895+62836delCGCCAATCGAGACCCTTAGGTTTCTG GCC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHLD2_chr10_87090206_87196465	87113735	AGTGGCTG others(22): Show AGTGGCTGAAGCCTGTAATCCCAGGCTTTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0058 a0010c0019t0001g0058	1	340	0.0029	-29	c.-6+ others(46): Show c.-6+16748_-6+16776delTGGCTGAAGCCTGTAATCCCAGGCTTTG G	SHLD2	ENSG00000122376.12	transcript	ENST00000298786.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOC1_chr9_111681171_111799937	111791752	GTAACCAT others(22): Show GTAACCATATTTCTCAAGTGGTCTTGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(157): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0006 others(7): Show a0001 a0002 a0006 a0007 a0008 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0001c0023 a0001c0027 others(12): Show a0001c0001 a0001c0023 a0001c0027 a0002c0002 a0002c0007 a0002c0010 a0002c0011 a0006c0006 a0007c0008 a0008c0009 a0018c0025 a0019c0024 a0020c0026 a0021c0028 a0022c0019	a0001c0001t0001 a0001c0023t0001 a0001c0027t0001 others(13): Show a0001c0001t0001 a0001c0023t0001 a0001c0027t0001 a0002c0002t0002 a0002c0007t0002 a0002c0007t0004 a0002c0010t0004 a0002c0011t0005 a0006c0006t0001 a0007c0008t0001 a0008c0009t0001 a0018c0025t0001 a0019c0024t0001 a0020c0026t0005 a0021c0028t0001 a0022c0019t0002	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(144): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0023t0001g0249 a0001c0027t0001g0152 a0002c0002t0002g0017 a0002c0002t0002g0122 a0002c0002t0002g0220 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0007t0002g0180 a0002c0007t0004g0153 a0002c0007t0004g0154 a0002c0007t0004g0155 a0002c0007t0004g0156 a0002c0007t0004g0157 a0002c0010t0004g0114 a0002c0011t0005g0214 a0006c0006t0001g0041 a0006c0006t0001g0042 a0007c0008t0001g0004 a0007c0008t0001g0005 a0007c0008t0001g0010 a0007c0008t0001g0078 a0007c0008t0001g0079 a0007c0008t0001g0080 a0008c0009t0001g0109 a0008c0009t0001g0110 a0018c0025t0001g0205 a0019c0024t0001g0165 a0020c0026t0005g0164 a0021c0028t0001g0200 a0022c0019t0002g0246	160	296	0.5405	-29	c.-36 others(44): Show c.-36-327_-36-299delTTCTCAAGACCACTTGAGAAATATGGTTA	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	1/27			chr9	TogoVar
SHOX_chrX_625791_656584	636672	CATATATA others(22): Show CATATATAAACATATATATACATAAAATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01257.hp2 HG01496.hp1 others(1): Show HG01081.hp2 HG01257.hp2 HG01496.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0027 a0001c0001t0079 a0001c0001t0120 others(1): Show a0001c0001t0027 a0001c0001t0079 a0001c0001t0120 a0003c0006t0160	a0001c0001t0027g0156 a0001c0001t0079g0027 a0001c0001t0120g0155 others(1): Show a0001c0001t0027g0156 a0001c0001t0079g0027 a0001c0001t0120g0155 a0003c0006t0160g0065	4	220	0.0182	-29	c.486 others(46): Show c.486+1899_486+1927delAAATATATATATAAACATATATATACAT A	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76735855	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0007 a0019c0033t0007	a0019c0033t0007g0192 a0019c0033t0007g0192	1	218	0.0046	-29	c.588 others(46): Show c.588-2904_588-2876delAAAAAAAAAAAAATATATATATATATAT A	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18989.hp1 NA18999.hp2 NA18962.hp2 NA18989.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0050 a0001c0001t0002 a0001c0001t0013 a0001c0001t0050	a0001c0001t0002g0209 a0001c0001t0013g0238 a0001c0001t0050g0239 a0001c0001t0002g0209 a0001c0001t0013g0238 a0001c0001t0050g0239	3	292	0.0103	-29	c.173 others(46): Show c.173-2834_173-2806delAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16			chr10	TogoVar
SIGIRR_chr11_400716_419999	401292	CCCGCTCA others(22): Show CCCGCTCACACCCGCCCCGCTCACCCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	242	0.0041	-29	c.45 others(40): Show c.4575_*4603delCCGGGGGTGAGCGGGGCGGGTGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4423		chr11	TogoVar
SIGIRR_chr11_400716_419999	401516	CACCCGCC others(22): Show CACCCGCCCCGCTCACACCCGCCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0024 a0003c0008t0001g0024	1	242	0.0041	-29	c.43 others(40): Show c.4351_*4379delTGAGCGGGGCGGGTGTGAGCGGGGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4199		chr11	TogoVar
SIK3_chr11_116838402_117103428	116969542	TAGATCAA others(22): Show TAGATCAAGTTGGCATTTTTTGAAACTAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp1 others(49): Show HG00099.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02109.hp2 HG02148.hp1 HG02280.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18953.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19060.hp2 NA19074.hp1 NA19081.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0013 a0014	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0006 a0007c0027 a0013c0018 a0014c0019	a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 a0002c0003t0001 a0002c0003t0007 a0002c0003t0008 a0002c0003t0009 a0002c0003t0025 a0003c0005t0005 a0004c0006t0008 a0007c0027t0008 a0013c0018t0001 a0014c0019t0007	a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 others(49): Show a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0360 a0001c0001t0004g0313 a0001c0002t0005g0312 a0001c0002t0005g0339 a0001c0002t0005g0345 a0001c0002t0005g0350 a0002c0003t0001g0338 a0002c0003t0001g0341 a0002c0003t0001g0342 a0002c0003t0007g0310 a0002c0003t0007g0311 a0002c0003t0007g0314 a0002c0003t0007g0319 a0002c0003t0007g0320 a0002c0003t0007g0325 a0002c0003t0007g0326 a0002c0003t0007g0327 a0002c0003t0007g0328 a0002c0003t0007g0329 a0002c0003t0007g0334 a0002c0003t0007g0335 a0002c0003t0007g0336 a0002c0003t0007g0343 a0002c0003t0007g0352 a0002c0003t0007g0354 a0002c0003t0007g0358 a0002c0003t0008g0337 a0002c0003t0008g0353 a0002c0003t0008g0355 a0002c0003t0009g0309 a0002c0003t0009g0315 a0002c0003t0009g0316 a0002c0003t0009g0318 a0002c0003t0009g0321 a0002c0003t0009g0323 a0002c0003t0009g0324 a0002c0003t0009g0359 a0002c0003t0025g0322 a0003c0005t0005g0351 a0004c0006t0008g0344 a0004c0006t0008g0346 a0004c0006t0008g0347 a0004c0006t0008g0348 a0004c0006t0008g0349 a0004c0006t0008g0361 a0007c0027t0008g0340 a0013c0018t0001g0016 a0014c0019t0007g0317	52	366	0.1421	-29	c.274 others(48): Show c.274-12507_274-12479delCTTAGTTTCAAAAAATGCCAACTTGA TCT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIM1_chr6_100380009_100469921	100412611	GGAAAGAA others(22): Show GGAAAGAAAGAAGGAAAGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0161 a0001c0001t0006g0161	1	320	0.0031	-29	c.116 others(48): Show c.1167+8150_1167+8178delTTTTCTTTCTTTCTTTCCTTCTTTCT TTC	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIN3B_chr19_16824398_16885349	16875158	GGGTCTGG others(22): Show GGGTCTGGTCTGGTCTGGTCTGTTTGGTCT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	372	0.0027	-29	c.259 others(46): Show c.2593-874_2593-846delTTGGTCTGGTCTGGTCTGGTCTGGTCTG T	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIN3B_chr19_16824398_16885349	16875191	CTGGTCTG others(22): Show CTGGTCTGGTCTGGTCTGTCTGGTCTGGTT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18998.hp2 NA19062.hp2 NA18966.hp1 NA18998.hp2 NA19062.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0002 a0009c0009t0002 a0001c0001t0002 a0009c0009t0002	a0001c0001t0002g0195 a0001c0001t0002g0210 a0009c0009t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0210 a0009c0009t0002g0191	3	372	0.0081	-29	c.259 others(46): Show c.2593-846_2593-818delTCTGGTCTGGTTTGGTCTGGTCTGGTCT G	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT4_chr12_120297321_120318249	120316220	CGCTTGAG others(22): Show CGCTTGAGCAGAGGAGGCAGAGGCTGCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	380	0.0026	-29	c.31 others(40): Show c.3185_*3213delGCTTGAGCAGAGGAGGCAGAGGCTGCAGT	SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding		2972		chr12	TogoVar
SKAP1_chr17_48128442_48435214	48405421	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01981.hp1 NA19000.hp1 HG01069.hp2 HG01981.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0290 a0002c0002t0001g0277 a0002c0002t0001g0289 a0001c0001t0001g0290 a0002c0002t0001g0277 a0002c0002t0001g0289	3	292	0.0103	-29	c.47- others(44): Show c.47-8665_47-8637delAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLAMF6_chr1_160480036_160528255	160484225	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	394	0.0025	-29	c.24 others(40): Show c.2453_*2481delAAAAAAAAAAATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		810		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484227	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02056.hp1 HG02080.hp2 others(6): Show HG00423.hp2 HG02056.hp1 HG02080.hp2 HG02165.hp1 HG02523.hp2 NA18946.hp2 NA18959.hp1 NA19064.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0129 a0001c0002t0001g0160 others(6): Show a0001c0002t0001g0039 a0001c0002t0001g0129 a0001c0002t0001g0160 a0001c0002t0001g0175 a0001c0002t0001g0195 a0001c0002t0001g0210 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0245	9	394	0.0228	-29	c.24 others(40): Show c.2451_*2479delAAAAAAAAAAAAATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		808		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484229	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	394	0.0025	-29	c.24 others(40): Show c.2449_*2477delAAAAAAAAAAAAAAATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		806		chr1	TogoVar
SLA_chr8_133031728_133107602	133067885	AGTATGTA others(22): Show AGTATGTATGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(42): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02132.hp1 HG02155.hp2 HG02683.hp2 HG02738.hp1 HG03130.hp1 HG03688.hp2 HG03831.hp2 HG04204.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18993.hp2 NA18997.hp2 NA19006.hp2 NA19058.hp2 NA19062.hp1 NA19075.hp2 NA19079.hp1 NA19081.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0087 a0001c0001t0003g0099 a0001c0001t0003g0136 others(42): Show a0001c0001t0002g0087 a0001c0001t0003g0099 a0001c0001t0003g0136 a0001c0001t0003g0208 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0005g0098 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0219 a0001c0001t0005g0229 a0001c0001t0005g0244 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0302 a0001c0001t0005g0334 a0001c0001t0015g0223 a0001c0001t0015g0228 a0001c0001t0018g0241 a0001c0001t0019g0253	45	344	0.1308	-29	c.-41 others(46): Show c.-41+6939_-41+6967delCTTCCTTCCTTCCTTCCTTCCATACATA C	SLA	ENSG00000155926.14	transcript	ENST00000338087.10	protein_coding	2/8			chr8	TogoVar

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