Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPRED2_chr2_65305851_65437599	65322254	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0223 a0001c0003t0003g0226 a0001c0003t0003g0223 a0001c0003t0003g0226	2	274	0.0073	-18	c.439 others(35): Show c.439-5389_439-5372delTAGAGAGAGAGAGAGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65322256	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0225 a0001c0003t0003g0225	1	272	0.0037	-18	c.439 others(35): Show c.439-5391_439-5374delTATAGAGAGAGAGAGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65349301	TCTGTCTC others(11): Show TCTGTCTCAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp1 NA19030.hp2 HG03486.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014	a0001c0001t0003g0206 a0001c0001t0007g0260 a0001c0001t0014g0209 a0001c0001t0003g0206 a0001c0001t0007g0260 a0001c0001t0014g0209	3	274	0.0109	-18	c.27- others(33): Show c.27-4423_27-4406delTTTTTTTTTTTGAGACAG	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5			chr2	TogoVar
SPRN_chr10_133415666_133429625	133428867	AGCATGCA others(11): Show AGCATGCAGAATAGGATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03654.hp2 HG03834.hp1 HG02486.hp2 HG03654.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	3	236	0.0127	-18	c.-44 others(29): Show c.-4429_-4412delACATCCTATTCTGCATGC	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding		4243		chr10	TogoVar
SPRR2A_chr1_153051120_153062512	153052395	GACACACA others(11): Show GACACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02970.hp1 others(10): Show HG02257.hp2 HG02630.hp2 HG02970.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp2 NA18971.hp2 NA18990.hp2 NA19003.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0002c0003t0004	a0001c0001t0001g0001 a0001c0001t0005g0008 a0001c0002t0001g0007 others(1): Show a0001c0001t0001g0001 a0001c0001t0005g0008 a0001c0002t0001g0007 a0002c0003t0004g0006	13	107	0.1215	-18	c.41 others(29): Show c.4104_*4121delGTGTGTGTGTGTGTGTGT	SPRR2A	ENSG00000241794.2	transcript	ENST00000392653.3	protein_coding		3724		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152944626	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02451.hp2 others(14): Show HG00639.hp1 HG01891.hp1 HG02451.hp2 HG02723.hp2 HG02896.hp1 HG03017.hp2 HG03453.hp2 HG03540.hp2 NA18906.hp1 NA18985.hp2 NA18997.hp1 NA19000.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0006c0007 others(1): Show a0001c0001 a0002c0002 a0006c0007 a0009c0008	a0001c0001t0001 a0002c0002t0002 a0006c0007t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0006c0007t0001 a0009c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0002c0002t0002g0001 a0006c0007t0001g0004 a0009c0008t0001g0004	17	434	0.0392	-18	c.-26 others(29): Show c.-2640_-2623delGTGTGTGTGTGTGTGTGC	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding		2579		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231333548	ATTTCATA others(11): Show ATTTCATACAGTATAGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	350	0.0029	-18	c.-48 others(29): Show c.-4835_-4818delTTTCATACAGTATAGTAT	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4744		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359053	ATTATATA others(11): Show ATTATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03195.hp2 NA18906.hp2 HG02970.hp1 HG03195.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0013 a0002c0002t0006g0080 a0002c0002t0006g0013 a0002c0002t0006g0080	3	345	0.0087	-18	c.56 others(29): Show c.5693_*5710delTTATATATATATATATAT	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4031		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(11): Show TTATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01952.hp1 HG03239.hp2 others(12): Show HG01257.hp1 HG01952.hp1 HG03239.hp2 HG03688.hp1 HG03831.hp1 NA18522.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp1 NA18968.hp1 NA18987.hp1 NA19011.hp1 NA19074.hp2 NA19081.hp1 NA19089.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0004c0006t0008	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 others(9): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0025 a0001c0001t0002g0094 a0001c0001t0002g0114 a0001c0001t0003g0010 a0001c0001t0003g0086 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0076 a0004c0006t0008g0040	15	44	0.3409	-18	c.56 others(29): Show c.5694_*5711delTATATATATATATATATA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4032		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359093	TATATATA others(11): Show TATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03017.hp1 HG03017.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0004 a0001c0001t0002 a0001c0001t0003 a0002c0002t0004	a0001c0001t0002g0016 a0001c0001t0003g0010 a0002c0002t0004g0043 a0001c0001t0002g0016 a0001c0001t0003g0010 a0002c0002t0004g0043	3	350	0.0086	-18	c.57 others(29): Show c.5733_*5750delATATATATATATATATAA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4071		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359728	TTTATTTT others(11): Show TTTATTTTCCTTGTCTTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	350	0.0029	-18	c.63 others(29): Show c.6368_*6385delTTATTTTCCTTGTCTTGC	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4706		chr1	TogoVar
SPRY1_chr4_123391795_123408755	123392528	CTTTTTTT others(11): Show CTTTTTTTTTTCTTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA18972.hp1 HG04228.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	399	0.0050	-18	c.-47 others(29): Show c.-4705_-4688delTTTTTTTTTTCTTTTTCT	SPRY1	ENSG00000164056.11	transcript	ENST00000651917.1	protein_coding		4266		chr4	TogoVar
SPRY3_chrX_155607586_155787459	155767688	GGAGGAGG others(11): Show GGAGGAGGAGGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03486.hp1 HG00738.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0128 a0001c0001t0031 a0001c0002t0128	a0001c0001t0031g0215 a0001c0002t0128g0012 a0001c0001t0031g0215 a0001c0002t0128g0012	2	229	0.0087	-18	c.-28 others(35): Show c.-281-256_-281-239delAGAGGAGGAGGAGAAAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767706	AGAGGAGG others(11): Show AGAGGAGGAGGAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02486.hp1 others(8): Show HG01109.hp1 HG01884.hp2 HG02486.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0063 a0001c0001t0064 others(6): Show a0001c0001t0007 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0078 a0001c0002t0118	a0001c0001t0007g0086 a0001c0001t0007g0098 a0001c0001t0007g0113 others(8): Show a0001c0001t0007g0086 a0001c0001t0007g0098 a0001c0001t0007g0113 a0001c0001t0063g0057 a0001c0001t0064g0067 a0001c0001t0065g0056 a0001c0001t0068g0119 a0001c0001t0071g0084 a0001c0001t0073g0014 a0001c0001t0078g0089 a0001c0002t0118g0011	11	214	0.0514	-18	c.-28 others(35): Show c.-281-242_-281-225delAAGAGGAGGAGGAGGAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767720	AAGAGGAG others(11): Show AAGAGGAGGAGGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01167.hp1 others(38): Show HG00423.hp1 HG00609.hp1 HG01167.hp1 HG01258.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp2 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18961.hp1 NA18970.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA19000.hp1 NA19011.hp1 NA19012.hp1 NA19062.hp1 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0036 a0001c0001t0050 a0001c0001t0057 a0001c0001t0058 a0001c0001t0066 a0001c0001t0072 a0001c0001t0089 a0001c0001t0090 a0001c0001t0104 a0001c0001t0116 a0001c0001t0117 a0001c0001t0130 a0001c0001t0141 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0002t0030 a0001c0002t0032 a0001c0002t0100 a0002c0003t0030	a0001c0001t0001g0039 a0001c0001t0001g0189 a0001c0001t0002g0005 others(38): Show a0001c0001t0001g0039 a0001c0001t0001g0189 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0207 a0001c0001t0003g0228 a0001c0001t0004g0168 a0001c0001t0005g0155 a0001c0001t0009g0147 a0001c0001t0009g0180 a0001c0001t0012g0003 a0001c0001t0012g0174 a0001c0001t0015g0123 a0001c0001t0015g0160 a0001c0001t0015g0161 a0001c0001t0017g0200 a0001c0001t0018g0106 a0001c0001t0025g0185 a0001c0001t0027g0090 a0001c0001t0027g0134 a0001c0001t0034g0025 a0001c0001t0036g0122 a0001c0001t0050g0173 a0001c0001t0057g0021 a0001c0001t0058g0171 a0001c0001t0066g0124 a0001c0001t0072g0036 a0001c0001t0089g0196 a0001c0001t0090g0073 a0001c0001t0104g0153 a0001c0001t0116g0216 a0001c0001t0117g0169 a0001c0001t0130g0203 a0001c0001t0141g0194 a0001c0001t0144g0159 a0001c0001t0145g0163 a0001c0001t0146g0230 a0001c0002t0030g0205 a0001c0002t0032g0068 a0001c0002t0100g0022 a0002c0003t0030g0144	41	152	0.2697	-18	c.-28 others(35): Show c.-281-206_-281-189delGAGAGGAGGAGGAGGAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767756	GAGAGGAG others(11): Show GAGAGGAGGAGGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02572.hp1 others(5): Show HG02109.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG03453.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0042 a0001c0001t0051 others(4): Show a0001c0001t0023 a0001c0001t0042 a0001c0001t0051 a0001c0001t0053 a0001c0001t0093 a0001c0001t0094 a0001c0002t0095	a0001c0001t0023g0058 a0001c0001t0023g0061 a0001c0001t0042g0092 others(5): Show a0001c0001t0023g0058 a0001c0001t0023g0061 a0001c0001t0042g0092 a0001c0001t0051g0082 a0001c0001t0053g0080 a0001c0001t0093g0078 a0001c0001t0094g0115 a0001c0002t0095g0054	8	224	0.0357	-18	c.-28 others(35): Show c.-281-194_-281-177delAGGAGAAAGAGGAGGAGG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9295199	TGTGTGTG others(11): Show TGTGTGTGTGAGAGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03669.hp2 HG03927.hp2 HG00741.hp1 HG03669.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0029 a0001c0002t0007 a0001c0003t0012 a0001c0001t0029 a0001c0002t0007 a0001c0003t0012	a0001c0001t0029g0035 a0001c0002t0007g0013 a0001c0003t0012g0021 a0001c0001t0029g0035 a0001c0002t0007g0013 a0001c0003t0012g0021	3	368	0.0082	-18	c.-15 others(37): Show c.-150+2138_-150+2155delAGAGTGTGAGTGTGTGTG	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9309291	AGAGAGAG others(11): Show AGAGAGAGAGAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03239.hp1 HG02451.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0038 a0001c0001t0027 a0001c0001t0038	a0001c0001t0027g0165 a0001c0001t0038g0200 a0001c0001t0027g0165 a0001c0001t0038g0200	2	353	0.0057	-18	c.-15 others(39): Show c.-150+16222_-150+16239delAGAGAGAGAGTGTGTGTG	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141151325	CTTGTGTG others(11): Show CTTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18964.hp2 NA19058.hp1 others(1): Show NA18941.hp2 NA18964.hp2 NA19058.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0174 a0001c0001t0002g0210 a0001c0002t0001g0091 others(1): Show a0001c0001t0002g0174 a0001c0001t0002g0210 a0001c0002t0001g0091 a0001c0002t0001g0128	4	151	0.0265	-18	c.40 others(29): Show c.4057_*4074delTTGTGTGTGTGTGTGTGT	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding		2715		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151359	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01496.hp1 HG02015.hp2 others(8): Show HG00597.hp2 HG01496.hp1 HG02015.hp2 HG02109.hp2 HG02257.hp2 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG03139.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0033 a0001c0001t0038 others(5): Show a0001c0001t0004 a0001c0001t0033 a0001c0001t0038 a0001c0001t0043 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008	a0001c0001t0004g0195 a0001c0001t0033g0217 a0001c0001t0038g0221 others(8): Show a0001c0001t0004g0195 a0001c0001t0033g0217 a0001c0001t0038g0221 a0001c0001t0043g0232 a0001c0002t0001g0084 a0001c0002t0003g0068 a0001c0002t0007g0074 a0001c0002t0007g0106 a0001c0002t0007g0108 a0001c0002t0007g0111 a0001c0002t0008g0228	11	251	0.0438	-18	c.40 others(29): Show c.4091_*4108delGTGTGTGTGTGTGTGTGC	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding		2749		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151361	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0239 a0001c0001t0048g0239	1	250	0.0040	-18	c.40 others(29): Show c.4093_*4110delGTGTGTGTGTGTGTGCGC	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding		2751		chr3	TogoVar
SPTAN1_chr9_128547587_128638662	128562974	ATATATAT others(11): Show ATATATATACATGTATGTG	A A	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	310	0.0032	-18	c.-3- others(33): Show c.-3-3755_-3-3738delCATGTATGTGTATATATA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128562983	CATGTATG others(11): Show CATGTATGTGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(68): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01496.hp1 HG01515.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02071.hp2 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 NA18522.hp2 NA18939.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18967.hp1 NA18969.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19056.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19084.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0001c0028 others(2): Show a0001c0001 a0001c0013 a0001c0028 a0001c0030 a0003c0011	a0001c0001t0001 a0001c0013t0001 a0001c0028t0001 others(2): Show a0001c0001t0001 a0001c0013t0001 a0001c0028t0001 a0001c0030t0001 a0003c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0035 others(68): Show a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0302 a0001c0013t0001g0163 a0001c0013t0001g0165 a0001c0028t0001g0160 a0001c0030t0001g0285 a0003c0011t0001g0063 a0003c0011t0001g0066 a0003c0011t0001g0067	71	227	0.3128	-18	c.-3- others(33): Show c.-3-3752_-3-3735delGTATGTGTATATATATAT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18946.hp1 NA18971.hp2 others(3): Show HG00558.hp1 NA18946.hp1 NA18971.hp2 NA18978.hp1 NA19058.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0215 a0001c0001t0002g0217 others(3): Show a0001c0001t0002g0167 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0002g0346	6	256	0.0234	-18	c.-48 others(37): Show c.-48+10072_-48+10089delAAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54481391	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(47): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG01109.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG02015.hp1 HG02015.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp2 HG03098.hp2 HG03209.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG04115.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18950.hp1 NA18954.hp2 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19086.hp2 NA19088.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0013 a0001c0025 a0001c0026 a0003c0027 a0009c0024	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(19): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0048 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0032 a0001c0003t0033 a0001c0003t0036 a0001c0004t0004 a0001c0005t0008 a0001c0005t0021 a0001c0005t0025 a0001c0011t0003 a0001c0011t0023 a0001c0013t0015 a0001c0025t0003 a0001c0026t0006 a0003c0027t0003 a0009c0024t0009	a0001c0001t0002g0351 a0001c0002t0001g0231 a0001c0002t0001g0359 others(47): Show a0001c0001t0002g0351 a0001c0002t0001g0231 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0048g0025 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0177 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0262 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0032g0321 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0004t0004g0107 a0001c0004t0004g0358 a0001c0005t0008g0041 a0001c0005t0021g0040 a0001c0005t0025g0250 a0001c0011t0003g0171 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0025t0003g0352 a0001c0026t0006g0102 a0003c0027t0003g0075 a0009c0024t0009g0232	50	104	0.4808	-18	c.-48 others(37): Show c.-48+24906_-48+24923delGTGTGTGTGTGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54533349	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	115	0.0087	-18	c.148 others(35): Show c.148+6812_148+6829delGTGTGTGTGTGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54571558	CACACACA others(11): Show CACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp1 HG02451.hp1 others(12): Show HG01346.hp2 HG02055.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03654.hp1 HG03942.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0013 others(1): Show a0001c0005 a0001c0008 a0001c0013 a0001c0016	a0001c0005t0021 a0001c0008t0005 a0001c0008t0026 others(2): Show a0001c0005t0021 a0001c0008t0005 a0001c0008t0026 a0001c0013t0015 a0001c0016t0005	a0001c0005t0021g0052 a0001c0008t0005g0045 a0001c0008t0005g0046 others(12): Show a0001c0005t0021g0052 a0001c0008t0005g0045 a0001c0008t0005g0046 a0001c0008t0005g0243 a0001c0008t0005g0244 a0001c0008t0005g0245 a0001c0008t0005g0260 a0001c0008t0005g0306 a0001c0008t0026g0365 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263 a0001c0016t0005g0064 a0001c0016t0005g0099	15	368	0.0408	-18	c.149 others(37): Show c.149-27516_149-27499delTACACACACACACACACA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594171	GTGGATGA others(11): Show GTGGATGAGAACCAGGGCT	G G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0308	1	368	0.0027	-18	c.149 others(35): Show c.149-4920_149-4903delTGGATGAGAACCAGGGCT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35			chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40531464	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp2 HG02109.hp2 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0014 a0001c0002 a0004c0014	a0001c0002t0001 a0004c0014t0001 a0001c0002t0001 a0004c0014t0001	a0001c0002t0001g0079 a0004c0014t0001g0055 a0001c0002t0001g0079 a0004c0014t0001g0055	2	24	0.0833	-18	c.394 others(37): Show c.3949-1143_3949-1126delTTTTTTTTTTTTTTTTTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	18/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40577948	TACACACA others(11): Show TACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02723.hp2 NA19043.hp1 HG02258.hp1 HG02723.hp2 NA19043.hp1	a0004 a0020 a0004 a0020	a0004c0007 a0004c0011 a0020c0050 a0004c0007 a0004c0011 a0020c0050	a0004c0007t0010 a0004c0011t0001 a0020c0050t0001 a0004c0007t0010 a0004c0011t0001 a0020c0050t0001	a0004c0007t0010g0143 a0004c0011t0001g0141 a0020c0050t0001g0023 a0004c0007t0010g0143 a0004c0011t0001g0141 a0020c0050t0001g0023	3	72	0.0417	-18	c.23 others(29): Show c.2380_*2397delACACACACACACACACAC	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding		1485		chr19	TogoVar
SPTB_chr14_64741283_64884907	64815264	GGGGCATC others(11): Show GGGGCATCTCCCATGAAGC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(124): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19070.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0017 a0018 a0021 a0024 a0026 a0027 a0029 a0030	a0001c0001 a0001c0009 a0002c0003 others(44): Show a0001c0001 a0001c0009 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0002c0012 a0002c0013 a0002c0023 a0002c0026 a0002c0031 a0002c0032 a0002c0033 a0002c0040 a0002c0043 a0002c0053 a0002c0076 a0002c0078 a0002c0080 a0003c0004 a0003c0030 a0003c0038 a0003c0047 a0003c0048 a0003c0079 a0004c0008 a0004c0024 a0004c0077 a0005c0070 a0006c0029 a0007c0017 a0007c0018 a0007c0035 a0008c0011 a0010c0052 a0010c0082 a0012c0025 a0013c0049 a0013c0075 a0017c0055 a0018c0054 a0021c0045 a0024c0046 a0026c0041 a0027c0042 a0029c0034 a0030c0044	a0001c0001t0001 a0001c0009t0001 a0001c0009t0002 others(74): Show a0001c0001t0001 a0001c0009t0001 a0001c0009t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0014 a0002c0003t0027 a0002c0003t0034 a0002c0005t0001 a0002c0005t0004 a0002c0005t0007 a0002c0005t0009 a0002c0005t0037 a0002c0006t0001 a0002c0006t0003 a0002c0006t0005 a0002c0006t0008 a0002c0006t0011 a0002c0006t0012 a0002c0006t0029 a0002c0007t0001 a0002c0007t0002 a0002c0007t0019 a0002c0012t0010 a0002c0013t0001 a0002c0013t0005 a0002c0023t0010 a0002c0026t0018 a0002c0031t0011 a0002c0032t0001 a0002c0033t0001 a0002c0040t0030 a0002c0043t0003 a0002c0053t0001 a0002c0076t0001 a0002c0078t0014 a0002c0080t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0015 a0003c0004t0038 a0003c0030t0012 a0003c0038t0001 a0003c0047t0031 a0003c0048t0006 a0003c0079t0006 a0004c0008t0001 a0004c0008t0002 a0004c0008t0003 a0004c0024t0001 a0004c0024t0003 a0004c0077t0004 a0005c0070t0022 a0006c0029t0001 a0007c0017t0001 a0007c0018t0002 a0007c0018t0005 a0007c0018t0006 a0007c0035t0003 a0008c0011t0002 a0010c0052t0013 a0010c0082t0011 a0012c0025t0008 a0013c0049t0003 a0013c0075t0003 a0017c0055t0001 a0018c0054t0007 a0021c0045t0005 a0024c0046t0016 a0026c0041t0005 a0027c0042t0016 a0029c0034t0002 a0030c0044t0001	a0001c0001t0001g0234 a0001c0009t0001g0009 a0001c0009t0001g0014 others(123): Show a0001c0001t0001g0234 a0001c0009t0001g0009 a0001c0009t0001g0014 a0001c0009t0002g0010 a0001c0009t0002g0011 a0002c0003t0001g0062 a0002c0003t0001g0113 a0002c0003t0001g0263 a0002c0003t0002g0128 a0002c0003t0005g0105 a0002c0003t0005g0110 a0002c0003t0005g0220 a0002c0003t0006g0153 a0002c0003t0008g0104 a0002c0003t0008g0121 a0002c0003t0009g0123 a0002c0003t0014g0112 a0002c0003t0014g0116 a0002c0003t0014g0117 a0002c0003t0027g0019 a0002c0003t0034g0060 a0002c0005t0001g0122 a0002c0005t0004g0131 a0002c0005t0004g0154 a0002c0005t0007g0124 a0002c0005t0007g0125 a0002c0005t0007g0127 a0002c0005t0007g0129 a0002c0005t0007g0130 a0002c0005t0007g0132 a0002c0005t0009g0017 a0002c0005t0009g0108 a0002c0005t0037g0107 a0002c0006t0001g0149 a0002c0006t0001g0205 a0002c0006t0003g0152 a0002c0006t0005g0150 a0002c0006t0005g0158 a0002c0006t0008g0052 a0002c0006t0011g0181 a0002c0006t0012g0026 a0002c0006t0012g0032 a0002c0006t0029g0111 a0002c0007t0001g0085 a0002c0007t0001g0135 a0002c0007t0001g0237 a0002c0007t0002g0086 a0002c0007t0019g0258 a0002c0012t0010g0001 a0002c0012t0010g0257 a0002c0013t0001g0059 a0002c0013t0001g0230 a0002c0013t0005g0137 a0002c0013t0005g0142 a0002c0023t0010g0030 a0002c0023t0010g0106 a0002c0026t0018g0066 a0002c0026t0018g0067 a0002c0031t0011g0109 a0002c0032t0001g0020 a0002c0033t0001g0021 a0002c0040t0030g0053 a0002c0043t0003g0028 a0002c0053t0001g0061 a0002c0076t0001g0175 a0002c0078t0014g0200 a0002c0080t0002g0169 a0003c0004t0001g0165 a0003c0004t0002g0035 a0003c0004t0002g0071 a0003c0004t0002g0078 a0003c0004t0002g0214 a0003c0004t0002g0222 a0003c0004t0002g0228 a0003c0004t0002g0229 a0003c0004t0002g0244 a0003c0004t0015g0265 a0003c0004t0015g0266 a0003c0004t0015g0267 a0003c0004t0038g0264 a0003c0030t0012g0164 a0003c0030t0012g0168 a0003c0038t0001g0022 a0003c0047t0031g0260 a0003c0048t0006g0245 a0003c0079t0006g0016 a0004c0008t0001g0004 a0004c0008t0001g0036 a0004c0008t0001g0069 a0004c0008t0001g0076 a0004c0008t0001g0083 a0004c0008t0001g0088 a0004c0008t0001g0097 a0004c0008t0002g0038 a0004c0008t0003g0095 a0004c0024t0001g0024 a0004c0024t0003g0023 a0004c0077t0004g0087 a0005c0070t0022g0031 a0006c0029t0001g0102 a0006c0029t0001g0157 a0007c0017t0001g0161 a0007c0017t0001g0163 a0007c0017t0001g0171 a0007c0018t0002g0211 a0007c0018t0005g0167 a0007c0018t0006g0179 a0007c0035t0003g0162 a0008c0011t0002g0054 a0008c0011t0002g0055 a0008c0011t0002g0057 a0008c0011t0002g0058 a0010c0052t0013g0115 a0010c0082t0011g0170 a0012c0025t0008g0119 a0012c0025t0008g0120 a0013c0049t0003g0134 a0013c0075t0003g0176 a0017c0055t0001g0037 a0018c0054t0007g0126 a0021c0045t0005g0187 a0024c0046t0016g0178 a0026c0041t0005g0155 a0027c0042t0016g0003 a0029c0034t0002g0240 a0030c0044t0001g0256	127	266	0.4774	-18	c.148 others(35): Show c.148+7665_148+7682delGCTTCATGGGAGATGCCC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64830334	CTTATTAT others(11): Show CTTATTATTATTATTATTA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02976.hp1 HG06807.hp2 others(2): Show HG02572.hp2 HG02976.hp1 HG06807.hp2 NA18998.hp2 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0024 a0027	a0001c0002 a0002c0081 a0005c0036 others(2): Show a0001c0002 a0002c0081 a0005c0036 a0024c0046 a0027c0042	a0001c0002t0033 a0002c0081t0001 a0005c0036t0017 others(2): Show a0001c0002t0033 a0002c0081t0001 a0005c0036t0017 a0024c0046t0016 a0027c0042t0016	a0001c0002t0033g0072 a0002c0081t0001g0177 a0005c0036t0017g0210 others(2): Show a0001c0002t0033g0072 a0002c0081t0001g0177 a0005c0036t0017g0210 a0024c0046t0016g0178 a0027c0042t0016g0003	5	86	0.0581	-18	c.-51 others(35): Show c.-51-7207_-51-7190delTAATAATAATAATAATAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534164	TTTCTCTC others(11): Show TTTCTCTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG03540.hp2 HG01891.hp1 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0010 a0001c0001t0024 a0001c0002t0010	a0001c0001t0024g0220 a0001c0002t0010g0065 a0001c0002t0010g0066 a0001c0001t0024g0220 a0001c0002t0010g0065 a0001c0002t0010g0066	3	239	0.0126	-18	c.130 others(39): Show c.1304-12601_1304-12584delTGTGAGAGAGAGAGAGAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77564400	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(46): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01243.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01981.hp2 HG02071.hp2 HG02080.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG03239.hp2 HG03540.hp2 HG03654.hp2 NA18747.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18966.hp2 NA18968.hp2 NA18981.hp1 NA18986.hp1 NA19000.hp2 NA19010.hp2 NA19066.hp1 NA19066.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0004t0004	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0003g0143 a0001c0001t0005g0182 a0001c0001t0006g0154 a0001c0001t0009g0174 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0015g0149 a0001c0001t0016g0068 a0001c0001t0016g0136 a0001c0001t0024g0220 a0001c0001t0027g0135 a0001c0004t0004g0190	49	65	0.7538	-18	c.757 others(35): Show c.757-1929_757-1912delGTGTGTGTGTGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34467217	AACACACA others(11): Show AACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	47	0.0213	-18	c.-50 others(29): Show c.-5028_-5011delGTGTGTGTGTGTGTGTGT	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		4978		chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369296	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG01192.hp2 others(10): Show HG00280.hp1 HG00621.hp2 HG01192.hp2 HG01496.hp2 HG02055.hp2 HG02056.hp1 HG02155.hp1 HG03579.hp1 NA18946.hp2 NA18947.hp2 NA18977.hp2 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0001g0155 a0001c0001t0001g0156 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239	13	381	0.0341	-18	c.-12 others(37): Show c.-126+2121_-126+2138delGAAAGAAAGAAAGAAAGA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SQOR_chr15_45630029_45696281	45634198	CTATATAT others(11): Show CTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	58	0.0172	-18	c.-92 others(27): Show c.-927_-910delTATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45692766	CAAGGGAG others(11): Show CAAGGGAGCTTGTTGAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	338	0.0030	-18	c.17 others(29): Show c.1737_*1754delAAGGGAGCTTGTTGAGTG	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		1486		chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179823445	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	67	0.0149	-18	c.302 others(33): Show c.302-395_302-378delAAAAAAAAAAAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA others(11): Show CAAACAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	163	0.0061	-18	c.205 others(37): Show c.2050-1630_2050-1613delTTTTTTTTTTTTTTGTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45451887	TAAATGAG others(11): Show TAAATGAGAGGTAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0094 a0009c0021t0001g0094	1	356	0.0028	-18	c.204 others(39): Show c.2049+25088_2049+25105delTATTTTTACCTCTCATTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45465000	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	207	0.0048	-18	c.204 others(39): Show c.2049+11975_2049+11992delGTGTGTGTGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37365319	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	18	0.0556	-18	c.-17 others(33): Show c.-173+77_-173+94delACACACACACACACACAC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37379942	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01346.hp1 others(26): Show HG01106.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01884.hp2 HG02071.hp1 HG02148.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02818.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp2 HG03927.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0003t0011	a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0060 others(26): Show a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0141 a0001c0001t0001g0238 a0001c0001t0001g0264 a0001c0001t0005g0138 a0001c0001t0005g0232 a0001c0001t0006g0008 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0071 a0001c0001t0008g0226 a0001c0001t0010g0120 a0001c0001t0010g0267 a0001c0001t0015g0017 a0001c0001t0015g0018 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0035g0072 a0001c0001t0036g0233 a0001c0001t0042g0066 a0001c0003t0011g0053	29	236	0.1229	-18	c.-17 others(37): Show c.-172-2669_-172-2652delAAAAAAAAAAAAAAAAAA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A3_chr4_55341242_55378100	55343115	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0080 a0001c0001t0073g0080	1	6	0.1667	-18	c.-32 others(29): Show c.-3221_-3204delAAAAAAAAAAAAAAAAAA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding		3126		chr4	TogoVar
SREBF2_chr22_41828105_41912305	41835602	ACCTGGCC others(11): Show ACCTGGCCGAGCCACCGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	334	0.0030	-18	c.88+ others(33): Show c.88+2260_88+2277delGTGCCTGGCCGAGCCACC	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41844033	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0077 a0002c0016t0002g0077	1	69	0.0145	-18	c.88+ others(35): Show c.88+10690_88+10707delACACACACACACACACAC	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1IP1_chr5_64713148_64773691	64749059	CATAATAA others(11): Show CATAATAATAATAATAATA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0040 a0003c0005t0040	a0003c0005t0040g0188 a0003c0005t0040g0188	1	158	0.0063	-18	c.61+ others(33): Show c.61+5238_61+5255delTATTATTATTATTATTAT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	2/4			chr5	TogoVar
SREK1_chr5_66139300_66188615	66184223	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02559.hp2 others(13): Show HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 others(4): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0030 a0001c0001t0038 a0001c0001t0048	a0001c0001t0010g0008 a0001c0001t0010g0232 a0001c0001t0010g0234 others(7): Show a0001c0001t0010g0008 a0001c0001t0010g0232 a0001c0001t0010g0234 a0001c0001t0011g0015 a0001c0001t0011g0199 a0001c0001t0016g0008 a0001c0001t0020g0198 a0001c0001t0030g0058 a0001c0001t0038g0233 a0001c0001t0048g0191	16	24	0.6667	-18	c.53 others(29): Show c.5356_*5373delTTTTTTTTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding		609		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	AACACACA others(11): Show AACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19063.hp2 NA19057.hp1 NA19063.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0079 a0001c0010t0001g0096 a0001c0010t0001g0079 a0001c0010t0001g0096	2	131	0.0153	-18	c.-33 others(27): Show c.-334_-317delACACACACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar

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