JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02145.hp2 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0008 a0001c0003t0001 a0002c0002t0008	a0001c0003t0001g0103 a0002c0002t0008g0095 a0001c0003t0001g0103 a0002c0002t0008g0095	2	240	0.0083	30	c.279 others(49): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	344	0.0029	30	c.495 others(45): Show c.495+245_495+274dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	322	0.0031	30	c.124 others(49): Show c.1249-1638_1249-1637insATATATATATATATATATATATATAT TTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928641	T T	TATACATA others(23): Show TATACATATATATACATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02922.hp2 others(5): Show HG02486.hp1 HG02622.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167	8	328	0.0244	30	c.898 others(45): Show c.898-301_898-300insGTATATATGTATATATGTATATATATGTAT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02083.hp2 NA18987.hp2 others(1): Show HG01169.hp1 HG02083.hp2 NA18987.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0175 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0175 a0001c0001t0001g0262 a0001c0001t0002g0014	4	328	0.0122	30	c.124 others(47): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02698.hp1 NA18962.hp2 others(5): Show HG02293.hp2 HG02698.hp1 NA18962.hp2 NA18982.hp1 NA19057.hp2 NA19065.hp1 NA19072.hp1 NA20905.hp2	a0000 a0001 a0006 a0000 a0001 a0006	a0000c0005 a0001c0001 a0001c0002 others(1): Show a0000c0005 a0001c0001 a0001c0002 a0006c0024	a0000c0005t0001 a0001c0001t0001 a0001c0002t0001 others(1): Show a0000c0005t0001 a0001c0001t0001 a0001c0002t0001 a0006c0024t0001	a0000c0005t0001g0199 a0001c0001t0001g0130 a0001c0001t0001g0147 others(5): Show a0000c0005t0001g0199 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0276 a0001c0002t0001g0287 a0001c0002t0001g0299 a0006c0024t0001g0131	8	318	0.0252	30	c.240 others(49): Show c.2409-2670_2409-2641dupTATATATATATATATATATATATATA TATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796017	A A	AGAGGGGG others(23): Show AGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	318	0.0031	30	c.253 others(49): Show c.2535-1137_2535-1136insGGGAGGGAGGGGGAGGGGAGGGGAGG GGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN5_chr2_72937036_73076712	73047243	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	250	0.0040	30	c.172 others(47): Show c.172-6313_172-6312insGTATATATATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047247	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	250	0.0040	30	c.172 others(47): Show c.172-6317_172-6316insGTGTGTGTATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047247	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 homoSapiens_chm13v2.hp1 NA18945.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0230 a0001c0001t0001g0118 a0001c0001t0002g0230	2	250	0.0080	30	c.172 others(47): Show c.172-6317_172-6316insGTGTGTATATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	250	0.0040	30	c.172 others(47): Show c.172-6319_172-6318insGTGTGTGTATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA20905.hp1 HG01255.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0123 a0001c0001t0001g0141	2	250	0.0080	30	c.172 others(47): Show c.172-6319_172-6318insGTGTGTATATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	250	0.0040	30	c.172 others(47): Show c.172-6321_172-6320insGTGTGTGTGTATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	250	0.0040	30	c.172 others(47): Show c.172-6321_172-6320insGTGTGTGTATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047283	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03927.hp2 HG01978.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0163 a0001c0001t0001g0105 a0001c0001t0002g0163	2	250	0.0080	30	c.172 others(47): Show c.172-6353_172-6352insGTGTGTATATATATATATATATATATAT AT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(23): Show GCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0002 a0002c0005t0009g0003 a0002c0005t0009g0002 a0002c0005t0009g0003	2	250	0.0080	30	c.171 others(47): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG CG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(23): Show GCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01433.hp1 HG00597.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0071 a0001c0002t0001g0055 a0001c0002t0001g0071	2	250	0.0080	30	c.171 others(47): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGCG CG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02040.hp2 HG02145.hp2 others(7): Show HG01891.hp2 HG02040.hp2 HG02145.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp2 NA18953.hp1 NA19003.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(7): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0019 a0001c0002t0044 a0001c0002t0052 a0001c0002t0058	a0001c0002t0002g0080 a0001c0002t0004g0106 a0001c0002t0005g0097 others(7): Show a0001c0002t0002g0080 a0001c0002t0004g0106 a0001c0002t0005g0097 a0001c0002t0010g0005 a0001c0002t0013g0032 a0001c0002t0015g0081 a0001c0002t0019g0031 a0001c0002t0044g0026 a0001c0002t0052g0111 a0001c0002t0058g0089	10	150	0.0667	30	c.192 others(47): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT AT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156504392	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0064 a0001c0001t0022g0064	1	150	0.0067	30	c.193 others(47): Show c.193-4205_193-4176dupATATATATATATATATATATATATATAT AT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23275120	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03669.hp2 HG00099.hp1 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0288 a0001c0004t0002g0299 a0001c0004t0002g0288 a0001c0004t0002g0299	2	354	0.0057	30	c.386 others(47): Show c.386-4216_386-4215insTATATATATATATATATATATATATATA TA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314382	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02280.hp2 HG02976.hp2 others(1): Show HG00609.hp2 HG02280.hp2 HG02976.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0007t0003	a0001c0001t0001g0308 a0001c0001t0002g0201 a0001c0004t0003g0314 others(1): Show a0001c0001t0001g0308 a0001c0001t0002g0201 a0001c0004t0003g0314 a0001c0007t0003g0353	4	354	0.0113	30	c.579 others(47): Show c.579-6254_579-6253insTTATATATATATATATATATATATATAT AT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14551795	T T	TTTTCTAA others(23): Show TTTTCTAAAAATAAAAATGAAAATTTTTTAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01993.hp2 HG02622.hp1 others(5): Show HG01192.hp1 HG01993.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 others(5): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0001c0001t0037 a0001c0001t0054 a0001c0001t0075 a0001c0001t0091	a0001c0001t0005g0072 a0001c0001t0013g0026 a0001c0001t0015g0005 others(5): Show a0001c0001t0005g0072 a0001c0001t0013g0026 a0001c0001t0015g0005 a0001c0001t0027g0010 a0001c0001t0037g0032 a0001c0001t0054g0058 a0001c0001t0075g0044 a0001c0001t0091g0102	8	102	0.0784	30	c.234 others(47): Show c.234+2936_234+2937insTTAAAAAATTTTCATTTTTATTTTTAGA AA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGK3_chr8_66707781_66867022	66720781	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0035 a0001c0002t0006g0035	1	142	0.0070	30	c.-12 others(49): Show c.-122+7949_-122+7950insTTATATATATATATATATATATATAT ATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	142	0.0070	30	c.-12 others(51): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19000.hp1 HG01496.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0263 a0001c0002t0001g0258 a0001c0001t0001g0263 a0001c0002t0001g0258	2	312	0.0064	30	c.-23 others(51): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574961	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19000.hp1 HG01074.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0258 a0001c0002t0002g0281 a0001c0002t0001g0258 a0001c0002t0002g0281	2	312	0.0064	30	c.-58 others(51): Show c.-589+15191_-589+15192insTATATATATATATATATATATATA TATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGO2_chr2_200521207_200589096	200522317	A A	ATTCTTTC others(23): Show ATTCTTTCTTTCTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0132 a0001c0003t0002g0132	1	384	0.0026	30	c.-39 others(41): Show c.-3938_-3937insTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		3889		chr2	TogoVar
SGO2_chr2_200521207_200589096	200578150	C C	CTATAGAT others(23): Show CTATAGATATAGATATAGATATAGATATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(90): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02273.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18522.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18987.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19074.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0009 a0013 others(3): Show a0001 a0009 a0013 a0014 a0017 a0018	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0009c0013 a0013c0025 a0014c0019 a0017c0017 a0018c0020	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0009c0013t0001 a0013c0025t0001 a0014c0019t0001 a0017c0017t0001 a0018c0020t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(70): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0002t0001g0001 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0268 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0285 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0001g0303 a0001c0002t0001g0309 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0004t0001g0004 a0001c0004t0001g0013 a0001c0004t0001g0016 a0001c0004t0001g0052 a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0066 a0001c0004t0001g0070 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0089 a0001c0004t0001g0091 a0009c0013t0001g0204 a0013c0025t0001g0260 a0014c0019t0001g0181 a0017c0017t0001g0302 a0018c0020t0001g0093	93	384	0.2422	30	c.378 others(49): Show c.3782+2694_3782+2723dupGATATAGATATAGATATAGATATAGA TATA	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGO2_chr2_200521207_200589096	200578177	T T	TAGATATA others(23): Show TAGATATAGATATAGATATAGATATAGATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18979.hp1 NA19087.hp2 HG00408.hp2 NA18979.hp1 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0061 a0001c0004t0001g0077 a0001c0004t0001g0054 a0001c0004t0001g0061 a0001c0004t0001g0077	3	384	0.0078	30	c.378 others(49): Show c.3782+2723_3782+2724insGATATAGATATAGATATAGATACAGA TATA	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA19005.hp1 NA20129.hp1 HG03834.hp1 NA19005.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0026 a0001c0001t0007 a0001c0001t0012 a0001c0001t0026	a0001c0001t0007g0116 a0001c0001t0012g0023 a0001c0001t0026g0066 a0001c0001t0007g0116 a0001c0001t0012g0023 a0001c0001t0026g0066	3	272	0.0110	30	c.-23 others(41): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	422	0.0024	30	c.57+ others(45): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG02257.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0249 a0002c0002t0002g0151 a0001c0001t0001g0249 a0002c0002t0002g0151	2	406	0.0049	30	c.-29 others(47): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1A_chrX_124341563_124378160	124375177	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	318	0.0031	30	c.37 others(41): Show c.3786_*3787insTCTCTCTATATATATATATATATATATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2018		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375202	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	318	0.0031	30	c.38 others(41): Show c.3811_*3812insATATATATATATATATATATACACACACAC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2043		chrX	TogoVar
SH2D1B_chr1_162390268_162417136	162416448	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03017.hp2 others(1): Show HG01516.hp1 HG01517.hp2 HG03017.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0043 a0001c0001t0004g0191 a0001c0001t0004g0192	4	424	0.0094	30	c.-44 others(41): Show c.-4433_-4432insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4313		chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02809.hp1 HG02970.hp2 others(1): Show HG00735.hp2 HG02809.hp1 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0028 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0035	4	410	0.0098	30	c.-34 others(39): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80533272	T T	TCCTCCTC others(23): Show TCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02723.hp2 HG03130.hp1 others(4): Show HG01081.hp2 HG02723.hp2 HG03130.hp1 HG03453.hp1 NA19043.hp2 NA19065.hp2 NA21309.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0013	a0001c0001 a0002c0002 a0012c0019 others(1): Show a0001c0001 a0002c0002 a0012c0019 a0013c0027	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0012c0019t0004 a0013c0027t0001	a0001c0001t0001g0029 a0001c0001t0004g0181 a0001c0001t0004g0182 others(4): Show a0001c0001t0001g0029 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0002c0002t0001g0127 a0012c0019t0004g0050 a0013c0027t0001g0184	7	322	0.0217	30	c.-50 others(41): Show c.-5060_-5059insCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		4629		chr10	TogoVar
SH3BGR_chr21_39446970_39520504	39510909	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	302	0.0033	30	c.436 others(45): Show c.436-762_436-733dupTATATATATATATATATATATATATATATA	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP2_chr4_2788085_2846096	2826666	C C	CTGTGTGT others(23): Show CTGTGTGTGTGCATGTCCGCATGTTGCTCTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0096 a0001c0004t0096	a0001c0004t0096g0136 a0001c0004t0096g0136	1	378	0.0027	30	c.429 others(45): Show c.429-547_429-546insGCATGTTGCTCTGTGTGTGTGTGCATGTCC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(23): Show AAAAAAAAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	348	0.0029	30	c.118 others(47): Show c.118+1622_118+1623insAAAAAATAATAATAATAATAATAATAAT AA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(23): Show TATATATTATATATAATATATAGTATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp2 others(85): Show HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18985.hp2 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA20905.hp2	a0002 a0013 a0002 a0013	a0002c0001 a0013c0015 a0002c0001 a0013c0015	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(7): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0012 a0002c0001t0014 a0002c0001t0015 a0002c0001t0022 a0013c0015t0001	a0002c0001t0001g0047 a0002c0001t0001g0069 a0002c0001t0001g0078 others(85): Show a0002c0001t0001g0047 a0002c0001t0001g0069 a0002c0001t0001g0078 a0002c0001t0001g0084 a0002c0001t0001g0155 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0175 a0002c0001t0001g0184 a0002c0001t0001g0189 a0002c0001t0001g0201 a0002c0001t0001g0218 a0002c0001t0001g0227 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0238 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0271 a0002c0001t0001g0309 a0002c0001t0001g0323 a0002c0001t0001g0327 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0002g0021 a0002c0001t0002g0051 a0002c0001t0002g0053 a0002c0001t0002g0055 a0002c0001t0002g0059 a0002c0001t0002g0062 a0002c0001t0002g0071 a0002c0001t0002g0081 a0002c0001t0002g0085 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0113 a0002c0001t0002g0116 a0002c0001t0002g0137 a0002c0001t0002g0152 a0002c0001t0002g0158 a0002c0001t0002g0168 a0002c0001t0002g0171 a0002c0001t0002g0180 a0002c0001t0002g0185 a0002c0001t0002g0191 a0002c0001t0002g0194 a0002c0001t0002g0199 a0002c0001t0002g0206 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0211 a0002c0001t0002g0212 a0002c0001t0002g0214 a0002c0001t0002g0216 a0002c0001t0002g0219 a0002c0001t0002g0220 a0002c0001t0002g0234 a0002c0001t0002g0241 a0002c0001t0002g0245 a0002c0001t0002g0247 a0002c0001t0002g0252 a0002c0001t0002g0253 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0002g0274 a0002c0001t0002g0287 a0002c0001t0002g0292 a0002c0001t0002g0303 a0002c0001t0002g0306 a0002c0001t0002g0308 a0002c0001t0002g0312 a0002c0001t0002g0316 a0002c0001t0002g0319 a0002c0001t0002g0328 a0002c0001t0003g0058 a0002c0001t0003g0231 a0002c0001t0004g0099 a0002c0001t0004g0156 a0002c0001t0007g0060 a0002c0001t0007g0262 a0002c0001t0012g0242 a0002c0001t0014g0317 a0002c0001t0015g0070 a0002c0001t0022g0291 a0013c0015t0001g0223	88	348	0.2529	30	c.119 others(47): Show c.119-2641_119-2640insTATATATAATATATAGTATATATAATAT AT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(23): Show TATATATTATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02922.hp1 others(2): Show HG02615.hp2 HG02717.hp2 HG02922.hp1 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0019	a0001c0002t0001g0005 a0001c0002t0002g0122 a0001c0002t0002g0258 others(2): Show a0001c0002t0001g0005 a0001c0002t0002g0122 a0001c0002t0002g0258 a0001c0002t0003g0012 a0001c0002t0019g0031	5	348	0.0144	30	c.119 others(47): Show c.119-2641_119-2640insTATATATAATATATATTATATATAATAT AT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(23): Show TATATATTATATATACTATATAGTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0117 a0002c0001t0001g0117	1	348	0.0029	30	c.119 others(47): Show c.119-2641_119-2640insTATATATACTATATAGTATATATAATAT AT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0354 a0001c0001t0010g0354	1	376	0.0027	30	c.496 others(47): Show c.496-3253_496-3224dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272632	T T	TTACAAAA others(23): Show TTACAAAACAGAGTGCCTGTAGGATAAAGAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG02486.hp1 others(4): Show HG01109.hp1 HG01168.hp1 HG02486.hp1 HG02630.hp2 HG02683.hp2 HG03130.hp2 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0002 a0001c0002t0001 a0004c0005t0002	a0001c0002t0001g0236 a0001c0002t0001g0255 a0001c0002t0001g0267 others(4): Show a0001c0002t0001g0236 a0001c0002t0001g0255 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0352 a0004c0005t0002g0005	7	376	0.0186	30	c.331 others(47): Show c.331-2756_331-2755insGTCTTTATCCTACAGGCACTCTGTTTTG TA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3D19_chr4_151115281_151330605	151256013	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02155.hp2 HG03654.hp1 others(1): Show HG01069.hp1 HG02155.hp2 HG03654.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0091 a0001c0001t0004g0094	4	282	0.0142	30	c.113 others(49): Show c.113-29957_113-29928dupTCTCCCTCTCCCTCTCCCTCTCCCTC TCCC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02818.hp1 HG03710.hp1 others(2): Show HG01106.hp1 HG02818.hp1 HG03710.hp1 NA18962.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0206 a0001c0007t0001g0126 a0001c0001t0001g0021 a0001c0001t0001g0206 a0001c0007t0001g0126	5	376	0.0133	30	c.769 others(47): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL1_chr19_4355370_4405547	4364866	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp2 NA18906.hp1 others(1): Show HG02818.hp2 NA18522.hp2 NA18906.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 a0001c0001t0001 a0001c0001t0005 a0001c0007t0001	a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0005g0274 others(1): Show a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0005g0274 a0001c0007t0001g0277	4	358	0.0112	30	c.331 others(45): Show c.331+586_331+615dupCACACACACACACACACACACACACACACA	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding	4/9			chr19	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	G G	GTTTCCTT others(23): Show GTTTCCTTCCCTTTCCTTTCCTTTCCGTTCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01358.hp1 HG01978.hp1 HG01258.hp2 HG01358.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0024 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0002g0024 a0001c0001t0006g0212 a0001c0001t0006g0213	3	260	0.0115	30	c.45+ others(47): Show c.45+43696_45+43697insCCCTTTCCTTTCCTTTCCGTTCCTTTCC TT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	G G	GTTTCCTT others(23): Show GTTTCCTTCCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	260	0.0039	30	c.45+ others(47): Show c.45+43696_45+43697insCCCTTTCCTTTCCTTTCCTTTCCTTTCC TT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar

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