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
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	163	0.0061	48	c.-39 others(59): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPEF2_chr5_35612863_35819611	35751078	T T	TACGTATA others(41): Show TACGTATATATATACGTATATATATATACATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0034 a0034	a0034c0054 a0034c0054	a0034c0054t0001 a0034c0054t0001	a0034c0054t0001g0185 a0034c0054t0001g0185	1	95	0.0105	48	c.333 others(67): Show c.3331-2544_3331-2543insGTATATATATACGTATATATATATAC ATATATATACACACACACACAC	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPESP1_chr15_68925525_68951811	68944823	A A	AACTCTCC others(41): Show AACTCTCCTTCTACAACTACTACTCCCCTCAATAATACTAACTCTAAGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	400	0.0025	48	c.65- others(61): Show c.65-776_65-775insACTCTCCTTCTACAACTACTACTCCCCTCAAT AATACTAACTCTAAGT	SPESP1	ENSG00000258484.4	transcript	ENST00000310673.4	protein_coding	1/1			chr15	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG02293.hp1 others(5): Show HG01934.hp1 HG01934.hp2 HG02293.hp1 HG02486.hp2 HG02723.hp2 NA18988.hp1 NA18988.hp2 NA19001.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0005c0004	a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 a0004c0003t0001 a0005c0004t0003	a0001c0001t0002g0244 a0001c0001t0002g0254 a0001c0001t0011g0084 others(5): Show a0001c0001t0002g0244 a0001c0001t0002g0254 a0001c0001t0011g0084 a0002c0002t0001g0209 a0002c0002t0001g0256 a0002c0002t0001g0318 a0004c0003t0001g0303 a0005c0004t0003g0020	8	190	0.0421	48	c.33- others(63): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(41): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02145.hp1 others(5): Show HG00735.hp1 HG01891.hp2 HG02145.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0001t0006 a0001c0010t0022 a0001c0001t0004 a0001c0001t0006 a0001c0010t0022	a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0188 others(5): Show a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0006g0321 a0001c0001t0006g0326 a0001c0001t0006g0333 a0001c0010t0022g0010	8	97	0.0825	48	c.611 others(65): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPINK2_chr4_56804861_56826701	56821746	A A	AGGGCGGG others(41): Show AGGGCGGGGAAAGGGGCGGGGGAAGGGGCGGGGGAAGGGGCGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG03209.hp1 others(5): Show HG02145.hp2 HG02723.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA20300.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0052 a0002c0002t0002g0055 others(4): Show a0002c0002t0002g0020 a0002c0002t0002g0052 a0002c0002t0002g0055 a0002c0002t0002g0183 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0197	8	370	0.0216	48	c.-85 others(55): Show c.-85_-84insCTTCCCCCGCCCCTTCCCCCGCCCCTTCCCCCGCCCCT TTCCCCGCCC	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding		46		chr4	TogoVar
SPINK6_chr5_148198042_148220137	148209954	A A	ATATGTAT others(41): Show ATATGTATACATACACACGTACGTATGTATACATACACACGTACGTATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	413	0.0024	48	c.81+ others(63): Show c.81+3910_81+3911insCACGTACGTATGTATACATACACACGTACG TATGTATGTATACATACA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45724559	C C	CATTTGCT others(41): Show CATTTGCTCATTTTGCAGTTAGGAAATCAAATGCCCAGAGAGAAAATAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	456	0.0022	48	c.293 others(63): Show c.293+503_293+550dupATTTGCTCATTTTGCAGTTAGGAAATCAAA TGCCCAGAGAGAAAATAA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATACACA others(41): Show TATACACATATATATATATATATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	237	0.0042	48	c.294 others(63): Show c.294-613_294-612insCACATATATATATATATATATACACATATA TATATATATATACACATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATACA others(41): Show TATATACACATATATATATATATATATACACATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	237	0.0042	48	c.294 others(63): Show c.294-611_294-610insCACATATATATATATATATATACACATATA TATATATATACACATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(41): Show TATATATACACATATATATATATATATACACATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02622.hp2 HG02723.hp2 others(8): Show HG02300.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0012 a0002c0002t0004g0030 a0002c0002t0004g0012 a0002c0002t0004g0030	11	247	0.0445	48	c.294 others(63): Show c.294-609_294-608insCACATATATATATATATATACACATATATA TATATATACACATATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(41): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	30	0.0333	48	c.180 others(65): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4540924	A A	AGGCCCCG others(41): Show AGGCCCCGTCCCGGGCCCCGTCCCGGGCCCCGTCCCGGGCCCCGTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0084 a0001c0001t0002g0010 a0001c0001t0002g0084	2	298	0.0067	48	c.34 others(59): Show c.3476_*3477insGGCCCCGTCCCGGGCCCCGTCCCGGGCCCCGTCC CGGGCCCCGTCCCG	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		1890		chr17	TogoVar
SPN_chr16_29658247_29675876	29667948	G G	GTGTGTGT others(41): Show GTGTGTGTATGTGTGCACATGTGTGTGCGCATGTGTGTGTGTGCGCGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	392	0.0026	48	c.30 others(59): Show c.3025_*3072dupATGTGTGCACATGTGTGTGCGCATGTGTGTGTGT GCGCGCATGTGTGT	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	3073	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPRY3_chrX_155607586_155787459	155777635	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATTATAATATATATGTAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0220 a0001c0001t0084g0220	1	229	0.0044	48	c.29 others(59): Show c.2906_*2907insATATATATATATATATATATATTATAATATATAT GTAAATATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG01192.hp1 HG01346.hp2 others(17): Show HG00621.hp1 HG01192.hp1 HG01346.hp2 HG01928.hp1 HG02015.hp1 HG02027.hp1 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG03130.hp1 HG04184.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18970.hp1 NA18977.hp1 NA19011.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0001t0014 a0001c0001t0027 others(11): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0027 a0001c0001t0036 a0001c0001t0039 a0001c0001t0065 a0001c0001t0066 a0001c0001t0091 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0002t0047 a0001c0004t0008	a0001c0001t0008g0004 a0001c0001t0008g0006 a0001c0001t0008g0143 others(17): Show a0001c0001t0008g0004 a0001c0001t0008g0006 a0001c0001t0008g0143 a0001c0001t0014g0172 a0001c0001t0014g0177 a0001c0001t0014g0179 a0001c0001t0027g0090 a0001c0001t0027g0134 a0001c0001t0036g0122 a0001c0001t0036g0210 a0001c0001t0039g0097 a0001c0001t0065g0056 a0001c0001t0066g0124 a0001c0001t0091g0217 a0001c0001t0104g0153 a0001c0001t0105g0017 a0001c0001t0106g0226 a0001c0001t0107g0063 a0001c0002t0047g0060 a0001c0004t0008g0100	20	21	0.9524	48	c.29 others(59): Show c.2906_*2907insATATATATATATATATATATATATATATATATAT ATGTAAATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATGTGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0030 a0001c0001t0070g0030	1	2	0.5000	48	c.29 others(59): Show c.2906_*2907insATATATATATATATATATATATATATATATATAT GTGTAAATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TTTATATA others(41): Show TTTATATATATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0196 a0001c0001t0089g0196	1	2	0.5000	48	c.28 others(59): Show c.2898_*2899insTTATATATATATATATATATATATATATATATAT ATATATATATGTAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2899		chrX	TogoVar
SPTBN5_chr15_41843146_41899053	41847824	G G	GGCAGTGC others(41): Show GGCAGTGCAGCGGAGGCGGCAGCGCAGGCCCCACTGATGGCCGGGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02615.hp1 others(3): Show HG01884.hp1 HG02486.hp1 HG02615.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp2	a0034 a0060 a0076 others(3): Show a0034 a0060 a0076 a0083 a0100 a0103	a0034c0031 a0060c0045 a0076c0056 others(3): Show a0034c0031 a0060c0045 a0076c0056 a0083c0118 a0100c0046 a0103c0066	a0034c0031t0004 a0060c0045t0004 a0076c0056t0002 others(3): Show a0034c0031t0004 a0060c0045t0004 a0076c0056t0002 a0083c0118t0002 a0100c0046t0004 a0103c0066t0004	a0034c0031t0004g0284 a0060c0045t0004g0044 a0076c0056t0002g0316 others(3): Show a0034c0031t0004g0284 a0060c0045t0004g0044 a0076c0056t0002g0316 a0083c0118t0002g0244 a0100c0046t0004g0045 a0103c0066t0004g0168	6	394	0.0152	48	c.79 others(57): Show c.791_*792insAGGCCCCGGCCATCAGTGGGGCCTGCGCTGCCGCCT CCGCTGCACTGC	SPTBN5	ENSG00000137877.10	transcript	ENST00000320955.8	protein_coding		321		chr15	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(41): Show TCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTTCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0234 a0001c0001t0048g0234	1	218	0.0046	48	c.130 others(67): Show c.1304-9863_1304-9862insGAGGAGGAGGAGGAGAAGGAGGAGGA GAAGAAGAAGAAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SQOR_chr15_45630029_45696281	45633395	C C	CCCCCCCC others(41): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	338	0.0030	48	c.-17 others(59): Show c.-1731_-1730insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		1633		chr15	TogoVar
SQOR_chr15_45630029_45696281	45696033	T T	TGGGGGGG others(41): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	338	0.0030	48	c.50 others(59): Show c.5003_*5004insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGG	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		4753		chr15	TogoVar
SRC_chr20_37341140_37411050	37361834	T T	TGCCGGGG others(41): Show TGCCGGGGTCTCTGTGTGCAGGTAGAGATGCCGGGGTCTCTGTGTGCAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02486.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0010g0025 a0001c0001t0010g0026	2	278	0.0072	48	c.-24 others(67): Show c.-246-3369_-246-3368insCCGGGGTCTCTGTGTGCAGGTAGAGA TGCCGGGGTCTCTGTGTGCAGG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0158 a0001c0001t0028g0158	1	315	0.0032	48	c.91 others(55): Show c.91_*92insATATATATATATATATATATATATATATATATATATAT ATATATATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(41): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0153 a0002c0004t0153	a0002c0004t0153g0076 a0002c0004t0153g0076	1	15	0.0667	48	c.490 others(65): Show c.490-3130_490-3129insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883404	T T	TGGGGGCA others(41): Show TGGGGGCAAAAAGCCGCGGTGGCGGGGGGGCAAAAAGCTGCGGTGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	53	0.0189	48	c.87 others(59): Show c.8755_*8756insCCGCCACCGCAGCTTTTTGCCCCCCCGCCACCGC GGCTTTTTGCCCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3883		chr1	TogoVar
SRMS_chr20_63533489_63552749	63535904	G G	GCCCCCCC others(41): Show GCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0003 a0003c0004t0002g0003	1	291	0.0034	48	c.49 others(59): Show c.4913_*4914insGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCA GGTGAGGGGGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2584		chr20	TogoVar
SRP54_chr14_34977992_35034567	34988582	T T	TATATATA others(41): Show TATATATATATATATATATATATCATATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	338	0.0030	48	c.-34 others(65): Show c.-34+5380_-34+5381insTATATATATCATATATATATATATATAT ATATAACATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988582	T T	TATATATA others(41): Show TATATATATATATATATATATCATATATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	338	0.0030	48	c.-34 others(65): Show c.-34+5380_-34+5381insTATATATCATATATATATATATATATAT ATATAACATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062738	T T	TATATATA others(41): Show TATATATATATATATATAAAATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0283 a0007c0015t0001g0283	1	350	0.0029	48	c.562 others(65): Show c.562-1165_562-1164insTATATATATATATATATATATATATATA TTTTATATATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	ACAAAAAA others(41): Show ACAAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0019 a0001c0001t0001g0021	2	269	0.0074	48	c.621 others(65): Show c.621+1042_621+1043insGTTTTTTTTTTTTTTTTTTTTTTGTTTT TTTTTTTGTTTTTTTTTTTG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPRA_chr11_126257938_126273895	126272869	C C	CCCTTCAA others(41): Show CCCTTCAACTTTAGGTGTATAGCTCGAAGCTTTCATTGCAGTATTCTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	351	0.0028	48	c.-41 others(59): Show c.-4113_-4066dupCTAGAATACTGCAATGAAAGCTTCGAGCTATACA CCTAAAGTTGAAGG	SRPRA	ENSG00000182934.12	transcript	ENST00000332118.11	protein_coding		3975		chr11	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0077 a0004c0015t0001g0077	1	190	0.0053	48	c.138 others(65): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATATTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 NA19004.hp1 others(1): Show HG00099.hp1 HG01081.hp1 NA19004.hp1 NA19004.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0002 a0001c0001t0001 a0003c0007t0002	a0001c0001t0001g0141 a0003c0007t0002g0034 a0003c0007t0002g0079 others(1): Show a0001c0001t0001g0141 a0003c0007t0002g0034 a0003c0007t0002g0079 a0003c0007t0002g0080	4	193	0.0207	48	c.138 others(65): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108835933	A A	AATTATAA others(41): Show AATTATAACTATATTAATATAATCGATTATAACTATATTAATATAATCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	300	0.0033	48	c.111 others(67): Show c.111-12620_111-12573dupCGATTATATTAATATAGTTATAATCG ATTATATTAATATAGTTATAAT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108835990	T T	TATATTAA others(41): Show TATATTAATATAATCGATTATAACTATATTAATATAATCGATTATATTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	325	0.0031	48	c.111 others(67): Show c.111-12677_111-12630dupTAATATAATCGATTATATTAATATAG TTATAATCGATTATATTAATAT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108835990	T T	TATATTAA others(41): Show TATATTAATATAATCGATTATATTAATATTAATATAATCGATTATATTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0262 a0001c0001t0024g0262	1	325	0.0031	48	c.111 others(67): Show c.111-12630_111-12629insTAATATAATCGATTATATTAATATTA ATATAATCGATTATATTAATAT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108836014	T T	TATATTAA others(41): Show TATATTAATATAATCGATTATAACTATATTAATATAATCGATTATATTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp1 others(48): Show HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01517.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02523.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02970.hp1 HG03490.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA19009.hp2 NA19012.hp1 NA19055.hp2 NA19066.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0001c0024 a0011c0016	a0001c0001t0001 a0001c0001t0054 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0054 a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0046 a0001c0002t0047 a0001c0002t0051 a0001c0002t0052 a0001c0003t0001 a0001c0003t0020 a0001c0017t0001 a0001c0024t0021 a0011c0016t0001	a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0054g0080 others(47): Show a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0054g0080 a0001c0002t0001g0005 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0003g0257 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0019g0038 a0001c0002t0019g0064 a0001c0002t0040g0055 a0001c0002t0041g0073 a0001c0002t0042g0095 a0001c0002t0043g0059 a0001c0002t0046g0037 a0001c0002t0047g0074 a0001c0002t0051g0062 a0001c0002t0052g0077 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0020g0231 a0001c0003t0020g0232 a0001c0017t0001g0076 a0001c0024t0021g0091 a0011c0016t0001g0072	51	67	0.7612	48	c.111 others(67): Show c.111-12654_111-12653insTAATATAATCGATTATATTAATATAG TTATAATCGATTATATTAATAT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108836014	T T	TATATTAA others(41): Show TATATTAATATAATCGATTATATTAATATTAATATAATCGATTATATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0009 a0010	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0013 a0001c0019 a0001c0025 a0002c0005 a0004c0011 a0005c0015 a0005c0021 a0009c0014 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0038 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0091 a0001c0001t0092 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0027 a0001c0002t0073 a0001c0002t0075 a0001c0002t0076 a0001c0002t0078 a0001c0002t0087 a0001c0002t0088 a0001c0006t0003 a0001c0007t0002 a0001c0013t0014 a0001c0019t0002 a0001c0025t0011 a0002c0005t0017 a0002c0005t0065 a0004c0011t0005 a0005c0015t0085 a0005c0021t0004 a0009c0014t0004 a0010c0012t0003	a0001c0001t0001g0018 a0001c0001t0002g0001 a0001c0001t0002g0128 others(179): Show a0001c0001t0001g0018 a0001c0001t0002g0001 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0193 a0001c0001t0002g0213 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0162 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0173 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0202 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0214 a0001c0001t0004g0298 a0001c0001t0005g0002 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0119 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0006g0008 a0001c0001t0006g0103 a0001c0001t0006g0107 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0212 a0001c0001t0007g0009 a0001c0001t0007g0011 a0001c0001t0007g0111 a0001c0001t0007g0117 a0001c0001t0007g0132 a0001c0001t0007g0210 a0001c0001t0008g0027 a0001c0001t0008g0174 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0008g0184 a0001c0001t0008g0216 a0001c0001t0008g0224 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0009g0104 a0001c0001t0009g0105 a0001c0001t0009g0110 a0001c0001t0009g0208 a0001c0001t0011g0017 a0001c0001t0011g0250 a0001c0001t0011g0291 a0001c0001t0012g0215 a0001c0001t0012g0293 a0001c0001t0012g0296 a0001c0001t0013g0170 a0001c0001t0013g0171 a0001c0001t0013g0172 a0001c0001t0013g0177 a0001c0001t0014g0220 a0001c0001t0014g0221 a0001c0001t0015g0007 a0001c0001t0015g0120 a0001c0001t0015g0124 a0001c0001t0018g0026 a0001c0001t0018g0029 a0001c0001t0018g0030 a0001c0001t0022g0199 a0001c0001t0022g0200 a0001c0001t0023g0167 a0001c0001t0023g0185 a0001c0001t0024g0261 a0001c0001t0026g0139 a0001c0001t0026g0160 a0001c0001t0027g0276 a0001c0001t0028g0113 a0001c0001t0028g0115 a0001c0001t0029g0015 a0001c0001t0030g0016 a0001c0001t0031g0245 a0001c0001t0031g0294 a0001c0001t0034g0204 a0001c0001t0038g0126 a0001c0001t0053g0203 a0001c0001t0056g0211 a0001c0001t0057g0190 a0001c0001t0058g0178 a0001c0001t0060g0201 a0001c0001t0061g0195 a0001c0001t0062g0133 a0001c0001t0063g0155 a0001c0001t0064g0125 a0001c0001t0067g0209 a0001c0001t0068g0146 a0001c0001t0070g0249 a0001c0001t0071g0251 a0001c0001t0072g0025 a0001c0001t0079g0246 a0001c0001t0080g0223 a0001c0001t0081g0121 a0001c0001t0082g0034 a0001c0001t0084g0106 a0001c0001t0086g0114 a0001c0001t0091g0109 a0001c0001t0092g0189 a0001c0002t0001g0222 a0001c0002t0001g0256 a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0158 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0253 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0269 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0288 a0001c0002t0011g0290 a0001c0002t0027g0275 a0001c0002t0073g0270 a0001c0002t0075g0268 a0001c0002t0076g0271 a0001c0002t0078g0258 a0001c0002t0087g0235 a0001c0002t0088g0280 a0001c0006t0003g0254 a0001c0006t0003g0255 a0001c0007t0002g0142 a0001c0007t0002g0143 a0001c0013t0014g0023 a0001c0019t0002g0147 a0001c0025t0011g0252 a0002c0005t0017g0010 a0002c0005t0017g0141 a0002c0005t0065g0140 a0004c0011t0005g0217 a0004c0011t0005g0218 a0005c0015t0085g0129 a0005c0021t0004g0166 a0009c0014t0004g0163 a0010c0012t0003g0022	201	217	0.9263	48	c.111 others(67): Show c.111-12654_111-12653insTAATATAATCGATTATATTAATATTA ATATAATCGATTATATTAATAT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
ST7_chr7_116948501_117235176	117188773	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	137	0.0073	48	c.107 others(65): Show c.1079-547_1079-546insTATATATATATATATATATATATATATA TATATATATATATATCCTCA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02280.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02280.hp1 HG02622.hp2 HG02818.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0005 a0001c0001t0019 a0001c0001t0109 others(1): Show a0001c0001t0005 a0001c0001t0019 a0001c0001t0109 a0003c0005t0018	a0001c0001t0005g0078 a0001c0001t0005g0171 a0001c0001t0005g0224 others(3): Show a0001c0001t0005g0078 a0001c0001t0005g0171 a0001c0001t0005g0224 a0001c0001t0019g0350 a0001c0001t0109g0267 a0003c0005t0018g0009	6	52	0.1154	48	c.132 others(67): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46719704	T T	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp2 HG01975.hp1 others(1): Show HG00438.hp2 HG01192.hp2 HG01975.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0038 a0001c0001t0002 a0001c0001t0006 a0001c0001t0038	a0001c0001t0002g0227 a0001c0001t0006g0030 a0001c0001t0006g0213 others(1): Show a0001c0001t0002g0227 a0001c0001t0006g0030 a0001c0001t0006g0213 a0001c0001t0038g0265	4	333	0.0120	48	c.132 others(67): Show c.132-15041_132-15040insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0188 a0002c0003t0002g0188	1	143	0.0070	48	c.394 others(65): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTTCCT TCCTTCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0157 a0001c0002t0005g0157	1	143	0.0070	48	c.394 others(65): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT GCCTGCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0182 a0002c0003t0008g0182	1	143	0.0070	48	c.394 others(65): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT GCCTGCCTGCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAP2_chr19_4319043_4343827	4322649	T T	TGGGGGGG others(41): Show TGGGGGGGAGGGGGGGAGATGAGCGGGGGGGGGCCCAGAGGAGTATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	386	0.0026	48	c.14 others(59): Show c.1483_*1484insCAGATACTCCTCTGGGCCCCCCCCCGCTCATCTC CCCCCCTCCCCCCC	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		1393		chr19	TogoVar
STARD3_chr17_39632144_39669201	39640729	C C	CAGGGCCT others(41): Show CAGGGCCTGGCACAAGGGGGAAGGGAGGGCAAGTAGATCTCAGTGTGTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	314	0.0032	48	c.-52 others(65): Show c.-52+3503_-52+3550dupCCTGGCACAAGGGGGAAGGGAGGGCAAG TAGATCTCAGTGTGTTAGGG	STARD3	ENSG00000131748.16	transcript	ENST00000336308.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
STARD7_chr2_96179859_96213827	96197067	A A	AAACTAAA others(41): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01361.hp1 NA18943.hp2 others(8): Show HG00609.hp2 HG01361.hp1 NA18943.hp2 NA18949.hp1 NA18954.hp1 NA18986.hp1 NA18990.hp1 NA19003.hp2 NA19010.hp1 NA19076.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0184 others(6): Show a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0184 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0243	11	348	0.0316	48	c.291 others(65): Show c.291-1519_291-1518insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD7_chr2_96179859_96213827	96197072	A A	AAACTAAA others(41): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	344	0.0029	48	c.291 others(65): Show c.291-1524_291-1523insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	31	0.0323	48	c.210 others(65): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar

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