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
SHC2_chr19_411589_466033	437217	C C	CATCTGCG others(17): Show CATCTGCGTGCTCGTTTGCGAGCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	210	0.0048	24	c.721 others(39): Show c.721-535_721-534insAAGCTCGCAAACGAGCACGCAGAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	4/12			chr19	TogoVar
SHC4_chr15_48818741_48968919	48897756	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18949.hp1 NA19000.hp2 HG04184.hp1 NA18949.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0002c0003t0003 a0002c0003t0013 a0001c0002t0004 a0002c0003t0003 a0002c0003t0013	a0001c0002t0004g0235 a0002c0003t0003g0111 a0002c0003t0013g0380 a0001c0002t0004g0235 a0002c0003t0003g0111 a0002c0003t0013g0380	3	50	0.0600	24	c.657 others(41): Show c.657-6969_657-6946dupGTGTGTGTGTGTGTGTGTGTGTGT	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01099.hp2 others(13): Show HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01516.hp2 HG02132.hp1 HG02698.hp1 HG02976.hp1 HG03654.hp2 HG03927.hp2 NA18941.hp2 NA18992.hp2 NA18999.hp1 NA19001.hp2 NA19078.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0004 a0001c0002t0018 a0002c0003t0003	a0001c0001t0001g0056 a0001c0001t0001g0201 a0001c0001t0001g0268 others(13): Show a0001c0001t0001g0056 a0001c0001t0001g0201 a0001c0001t0001g0268 a0001c0001t0001g0305 a0001c0001t0001g0368 a0001c0001t0002g0079 a0001c0001t0002g0099 a0001c0001t0002g0156 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0293 a0001c0001t0011g0008 a0001c0002t0004g0366 a0001c0002t0018g0010 a0002c0003t0003g0214 a0002c0003t0003g0294	16	60	0.2667	24	c.656 others(41): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182918221	T T	TACATATA others(17): Show TACATATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18988.hp1 NA18962.hp2 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0030 a0002c0002t0001g0031	2	300	0.0067	24	c.118 others(45): Show c.1182+11425_1182+11426insGTATATATATGTGTATATATATGT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(17): Show GAAAGGAAAGGAAAGGAAGGGAAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02809.hp2 HG02109.hp2 HG02451.hp1 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0122	3	127	0.0236	24	c.118 others(43): Show c.1182+4945_1182+4946insTCTTCCCTTCCTTTCCTTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19007.hp2 HG00639.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0261 a0001c0001t0001g0266	2	126	0.0159	24	c.118 others(43): Show c.1182+4922_1182+4945dupTCTTTCTTTCTTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924786	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03927.hp1 HG01243.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0253 a0001c0001t0001g0178 a0001c0001t0001g0253	2	235	0.0085	24	c.118 others(43): Show c.1182+4860_1182+4861insCTCTTTCTTTCTTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924797	A A	AGAGAGAA others(17): Show AGAGAGAAAGAGAGAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	275	0.0036	24	c.118 others(43): Show c.1182+4849_1182+4850insCCTTCCTTTCTCTCTCTTTCTCTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp2 HG01261.hp2 others(13): Show HG00280.hp2 HG01109.hp2 HG01261.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG03098.hp1 HG04184.hp1 NA18612.hp1 NA18942.hp2 NA18948.hp1 NA18961.hp1 NA18988.hp1 NA18992.hp2 NA19086.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0077 others(13): Show a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0251 a0001c0001t0001g0294 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0030 a0004c0004t0001g0185	16	81	0.1975	24	c.118 others(43): Show c.1182+4688_1182+4711dupTCTTTCTTTCTTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGGAAG others(17): Show GAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp1 HG03471.hp2 others(1): Show HG00140.hp2 HG01952.hp1 HG03471.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0001c0001t0001 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0241 a0001c0009t0001g0289 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0241 a0001c0009t0001g0289 a0002c0002t0001g0038	4	69	0.0580	24	c.118 others(43): Show c.1182+4711_1182+4712insTCTTTCTTTCTTTCTTTCTTCCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp1 HG02723.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0074 a0003c0006t0001g0063 a0001c0001t0001g0074 a0003c0006t0001g0063	2	67	0.0299	24	c.118 others(43): Show c.1182+4711_1182+4712insTCTTTCTTTCTTTCTTCCTTCCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182944121	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp1 HG02615.hp2 others(11): Show HG01261.hp2 HG02615.hp1 HG02615.hp2 HG02895.hp1 HG03017.hp1 HG03942.hp2 NA18612.hp1 NA18957.hp2 NA18959.hp2 NA18970.hp2 NA18980.hp2 NA18992.hp2 NA19043.hp1 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0066 a0001c0001t0001g0144 a0001c0001t0001g0145 others(11): Show a0001c0001t0001g0066 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0004c0004t0001g0143	14	46	0.3043	24	c.556 others(41): Show c.556-3602_556-3579dupATTTATTTATTTATTTATTTATTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	2/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18974.hp2 HG01978.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0035 a0001c0001t0001g0036	2	16	0.1250	24	c.597 others(41): Show c.597-2179_597-2156dupAAAAAAAAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHD_chr19_4274266_4295722	4286322	T T	TCCTTCCT others(17): Show TCCTTCCTTCCTACCTTCCTTCCTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0299 a0001c0001t0003g0299	1	441	0.0023	24	c.716 others(41): Show c.716+1429_716+1430insACCTTCCTTCCTACCTTCCTTCCT	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SHISA2_chr13_26039597_26057016	26049863	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0109 a0001c0002t0003g0109	1	90	0.0111	24	c.334 others(39): Show c.334+755_334+778dupGTGTGTGTGTGTGTGTGTGTGTGT	SHISA2	ENSG00000180730.5	transcript	ENST00000319420.4	protein_coding	1/1			chr13	TogoVar
SHISA6_chr17_11236213_11569063	11237575	G G	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02040.hp2 HG00735.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0029 a0001c0001t0002 a0001c0013t0029	a0001c0001t0002g0022 a0001c0013t0029g0021 a0001c0001t0002g0022 a0001c0013t0029g0021	2	26	0.0769	24	c.-38 others(35): Show c.-3848_-3847insGAAGAAGAAGAAGAAGAAGAAGAA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding		3637		chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(17): Show TCTCTCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0184 a0001c0001t0019g0184	1	82	0.0122	24	c.799 others(43): Show c.799+13755_799+13756insTCTCTCTCACACACACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0027 a0001c0001t0013g0027	1	82	0.0122	24	c.799 others(43): Show c.799+13755_799+13756insTCTCTCTCTCTCACACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11397395	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0118 a0001c0004t0016g0118	1	3	0.3333	24	c.895 others(43): Show c.895+17898_895+17921dupGTGTGTGTGTGTGTGTGTGTGTGT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA7_chr19_55423740_55448300	55435386	G G	GGTGTGTG others(17): Show GGTGTGTGTGGTGTATATGTGGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0110 a0001c0001t0008g0110	1	265	0.0038	24	c.977 others(41): Show c.977-1591_977-1590insACACCACATATACACCACACACAC	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12925435	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTTTATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0171 a0001c0001t0028g0171	1	214	0.0047	24	c.691 others(41): Show c.691+8631_691+8632insGTTTATGTGTGTGTGTGTGTGTGT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12970397	A A	ATATACAT others(17): Show ATATACATATATATATACATATATG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	213	0.0047	24	c.691 others(43): Show c.691+53586_691+53587insCATATATATATACATATATGTATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015853	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp2 HG02015.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0120 a0001c0001t0028g0171 a0001c0001t0001g0120 a0001c0001t0028g0171	2	66	0.0303	24	c.691 others(43): Show c.691+99071_691+99094dupCTTTCTTTCTTTCTTTCTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019968	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18944.hp1 HG02015.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0192 a0001c0001t0003g0205 a0001c0001t0001g0192 a0001c0001t0003g0205	2	74	0.0270	24	c.691 others(45): Show c.691+103174_691+103197dupTTCCTTCCTTCCTTCCTTCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019968	T T	TTTCCTTC others(17): Show TTTCCTTCGTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01433.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0085 a0001c0001t0003 a0001c0001t0085	a0001c0001t0003g0180 a0001c0001t0085g0167 a0001c0001t0003g0180 a0001c0001t0085g0167	2	74	0.0270	24	c.691 others(45): Show c.691+103160_691+103161insGTTCCTTCCTTCCTTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13139394	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02280.hp2 others(4): Show HG01261.hp1 HG02055.hp2 HG02280.hp2 HG02976.hp1 HG03130.hp1 HG06807.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 others(4): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0037 a0001c0001t0059 a0001c0002t0006 a0002c0005t0006	a0001c0001t0006g0083 a0001c0001t0009g0214 a0001c0001t0021g0061 others(4): Show a0001c0001t0006g0083 a0001c0001t0009g0214 a0001c0001t0021g0061 a0001c0001t0037g0156 a0001c0001t0059g0046 a0001c0002t0006g0116 a0002c0005t0006g0098	7	123	0.0569	24	c.692 others(43): Show c.692-63984_692-63961dupCTTCCTTCCTTCCTTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13139394	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02698.hp1 NA18612.hp2 others(2): Show HG02300.hp1 HG02698.hp1 NA18612.hp2 NA19043.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0023 others(2): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0023 a0001c0001t0045 a0001c0001t0055	a0001c0001t0002g0163 a0001c0001t0016g0212 a0001c0001t0023g0195 others(2): Show a0001c0001t0002g0163 a0001c0001t0016g0212 a0001c0001t0023g0195 a0001c0001t0045g0089 a0001c0001t0055g0118	5	121	0.0413	24	c.692 others(43): Show c.692-63981_692-63980insTTTCCTTCCTTCCTTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13197104	T T	TATATATA others(17): Show TATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18955.hp2 HG02523.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0120 a0001c0001t0011g0139 a0001c0001t0001g0120 a0001c0001t0011g0139	2	128	0.0156	24	c.692 others(41): Show c.692-6289_692-6288insTATATACACACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0017 a0001c0002t0022g0017	1	162	0.0062	24	c.80 others(35): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	105	0.0095	24	c.600 others(43): Show c.600-11393_600-11392insTATATATATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19091.hp2 NA20752.hp2 HG00280.hp2 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0032 a0001c0001t0002 a0001c0001t0005 a0001c0001t0032	a0001c0001t0002g0230 a0001c0001t0005g0144 a0001c0001t0032g0060 a0001c0001t0002g0230 a0001c0001t0005g0144 a0001c0001t0032g0060	3	146	0.0205	24	c.600 others(43): Show c.600-16867_600-16844dupCACACACACACACACACACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02886.hp1 others(1): Show HG02717.hp1 HG02723.hp2 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0023 a0001c0003t0088 others(1): Show a0001c0003t0011 a0001c0003t0023 a0001c0003t0088 a0001c0003t0089	a0001c0003t0011g0140 a0001c0003t0023g0031 a0001c0003t0088g0302 others(1): Show a0001c0003t0011g0140 a0001c0003t0023g0031 a0001c0003t0088g0302 a0001c0003t0089g0303	4	36	0.1111	24	c.599 others(39): Show c.599+530_599+531insAAGGAAGGCAGGCAGGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(16): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02630.hp1 HG03540.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp1 NA18964.hp2 NA18966.hp2 NA18983.hp1 NA19004.hp2 NA19009.hp1 NA19043.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0036 a0001c0002t0001 a0001c0002t0004 others(12): Show a0001c0001t0036 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0047 a0001c0002t0057 a0001c0002t0073 a0001c0002t0075 a0001c0002t0076 a0001c0002t0082 a0002c0006t0004	a0001c0001t0036g0012 a0001c0002t0001g0147 a0001c0002t0004g0148 others(15): Show a0001c0001t0036g0012 a0001c0002t0001g0147 a0001c0002t0004g0148 a0001c0002t0006g0011 a0001c0002t0006g0109 a0001c0002t0006g0212 a0001c0002t0008g0234 a0001c0002t0011g0306 a0001c0002t0012g0028 a0001c0002t0012g0041 a0001c0002t0014g0047 a0001c0002t0047g0048 a0001c0002t0057g0214 a0001c0002t0073g0296 a0001c0002t0075g0170 a0001c0002t0076g0199 a0001c0002t0082g0183 a0002c0006t0004g0178	19	51	0.3725	24	c.599 others(39): Show c.599+530_599+531insAAGGAAGGAAGGCAGGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03239.hp1 HG04199.hp1 others(3): Show HG02886.hp2 HG03239.hp1 HG04199.hp1 NA18978.hp2 NA19004.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0062 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0062 a0001c0002t0078 a0001c0002t0095	a0001c0002t0001g0223 a0001c0002t0001g0348 a0001c0002t0002g0281 others(3): Show a0001c0002t0001g0223 a0001c0002t0001g0348 a0001c0002t0002g0281 a0001c0002t0062g0255 a0001c0002t0078g0246 a0001c0002t0095g0195	6	38	0.1579	24	c.599 others(39): Show c.599+530_599+531insAAGGAAGGAAGGAAGGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL2A_chr1_52628168_52662065	52654258	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	424	0.0024	24	c.323 others(41): Show c.323-2529_323-2528insTAGATAGATAGATAGATAGACAGA	SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHLD1_chr20_5745401_5869395	5817432	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	129	0.0078	24	c.178 others(43): Show c.178+44390_178+44391insCTCTCTCTCTCTCTCTGTGTGTGT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5852415	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0078 a0007c0009t0001g0078	1	294	0.0034	24	c.179 others(43): Show c.179-10603_179-10580dupCTTCCTTCCTTCCTTCCTTCCTTC	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOC1_chr9_111681171_111799937	111781724	G G	GTAAATAA others(17): Show GTAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19030.hp2 NA19043.hp2 HG00673.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0022 a0002c0007 a0001c0022 a0002c0007	a0001c0022t0001 a0002c0007t0001 a0002c0007t0006 a0001c0022t0001 a0002c0007t0001 a0002c0007t0006	a0001c0022t0001g0196 a0002c0007t0001g0167 a0002c0007t0006g0213 a0001c0022t0001g0196 a0002c0007t0001g0167 a0002c0007t0006g0213	3	94	0.0319	24	c.170 others(39): Show c.170-731_170-708dupTTTATTTATTTATTTATTTATTTA	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781750	A A	AAATAAAT others(17): Show AAATAAATAAATAAATTAATTAATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0110 a0008c0009t0001g0110	1	260	0.0038	24	c.170 others(39): Show c.170-734_170-733insAATTAATTAATTTATTTATTTATT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781750	A A	AAATAAAT others(17): Show AAATAAATAAATTAATTAATTAATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp2 HG03239.hp1 others(1): Show HG00642.hp2 HG01256.hp2 HG03239.hp1 HG03834.hp1	a0003 a0017 a0003 a0017	a0003c0003 a0017c0016 a0003c0003 a0017c0016	a0003c0003t0002 a0017c0016t0002 a0003c0003t0002 a0017c0016t0002	a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0111 others(1): Show a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0111 a0017c0016t0002g0081	4	263	0.0152	24	c.170 others(39): Show c.170-734_170-733insAATTAATTAATTAATTTATTTATT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781750	A A	AAATAAAT others(17): Show AAATAAATTAATTAATTAATTAATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG01071.hp2 others(10): Show HG00140.hp1 HG00408.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01261.hp1 HG02055.hp1 HG02280.hp1 HG02738.hp1 HG03195.hp2 HG03669.hp2 NA18998.hp2 NA20905.hp2	a0003 a0008 a0015 a0003 a0008 a0015	a0003c0003 a0008c0009 a0015c0029 a0003c0003 a0008c0009 a0015c0029	a0003c0003t0002 a0008c0009t0001 a0015c0029t0002 a0003c0003t0002 a0008c0009t0001 a0015c0029t0002	a0003c0003t0002g0011 a0003c0003t0002g0020 a0003c0003t0002g0077 others(9): Show a0003c0003t0002g0011 a0003c0003t0002g0020 a0003c0003t0002g0077 a0003c0003t0002g0082 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0106 a0008c0009t0001g0109 a0015c0029t0002g0089	13	272	0.0478	24	c.170 others(39): Show c.170-734_170-733insAATTAATTAATTAATTAATTTATT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781750	A A	AAATTAAT others(17): Show AAATTAATTAATTAATTAATTAATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20129.hp2 HG03098.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0091 a0003c0003t0002g0105 a0003c0003t0002g0091 a0003c0003t0002g0105	2	261	0.0077	24	c.170 others(39): Show c.170-734_170-733insAATTAATTAATTAATTAATTAATT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOX2_chr3_158090905_158111420	158096918	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0055 a0001c0001t0028g0055	1	376	0.0027	24	c.11 others(35): Show c.1108_*1109insCATATATATATATATATATATATA	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1108		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02523.hp1 NA18940.hp1 others(1): Show HG01934.hp2 HG02523.hp1 NA18940.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0004g0006 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0004g0006	4	64	0.0625	24	c.-57 others(33): Show c.-571_-548dupCTCTCTCTCTCTCTCTCTCTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		152		chr3	TogoVar
SHOX_chrX_625791_656584	656279	A A	AAAATAAA others(17): Show AAAATAAATAAGTAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01175.hp1 HG01175.hp2 others(6): Show HG01169.hp1 HG01175.hp1 HG01175.hp2 HG02818.hp1 HG02970.hp2 HG03195.hp2 HG03516.hp1 HG03831.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0022 a0001c0001t0030 a0001c0001t0068 others(6): Show a0001c0001t0022 a0001c0001t0030 a0001c0001t0068 a0001c0001t0078 a0001c0001t0124 a0001c0001t0129 a0001c0001t0160 a0001c0002t0169 a0002c0003t0141	a0001c0001t0022g0131 a0001c0001t0030g0043 a0001c0001t0068g0055 others(6): Show a0001c0001t0022g0131 a0001c0001t0030g0043 a0001c0001t0068g0055 a0001c0001t0078g0170 a0001c0001t0124g0045 a0001c0001t0129g0082 a0001c0001t0160g0114 a0001c0002t0169g0124 a0002c0003t0141g0064	9	218	0.0413	24	c.11 others(37): Show c.11643_*11644insAAATAAATAAGTAAATAAATAAAT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4696		chrX	TogoVar
SHPK_chr17_3603240_3641250	3635193	T T	TGAAGGAA others(17): Show TGAAGGAAGGAAGAAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG00741.hp2 others(4): Show HG00280.hp2 HG00741.hp1 HG00741.hp2 HG02559.hp2 HG03098.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0004	a0001c0001t0003g0189 a0001c0001t0005g0261 a0001c0001t0005g0262 others(4): Show a0001c0001t0003g0189 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0008g0260 a0002c0002t0004g0188	7	296	0.0236	24	c.168 others(39): Show c.168+858_168+859insCTTCCTTCCTTTCTTCCTTCCTTC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0212 a0003c0003t0001g0212	1	127	0.0079	24	c.118 others(41): Show c.1182-673_1182-672insTATATATATATATATATATATACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	127	0.0079	24	c.118 others(41): Show c.1182-673_1182-672insTATATATATATACACACACACACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72765530	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 NA19030.hp1 HG02615.hp2 HG02818.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105	3	136	0.0221	24	c.118 others(45): Show c.1182-14718_1182-14695dupATATATATATATATATATATATAT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0002 a0002c0002t0006g0002	1	97	0.0103	24	c.118 others(45): Show c.1182-14722_1182-14721insAAAATATATATATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar

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