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
SPTSSB_chr3_161339798_161376517	161369352	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	243	0.0041	30	c.-12 others(49): Show c.-126+2082_-126+2083insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	C C	CAGAAAAG others(23): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02896.hp1 others(6): Show HG01243.hp2 HG02258.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 NA18970.hp2 NA19043.hp1 NA19090.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0005t0007 a0001c0005t0031 a0003c0004t0005	a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0009g0301 others(5): Show a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0009g0301 a0001c0001t0012g0100 a0001c0005t0007g0047 a0001c0005t0007g0372 a0001c0005t0031g0370 a0003c0004t0005g0152	9	79	0.1139	30	c.61- others(45): Show c.61-4364_61-4335dupTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0195 a0001c0003t0010g0195	1	194	0.0052	30	c.38 others(41): Show c.3888_*3889insACACACACACACACACACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01258.hp2 HG01496.hp1 others(19): Show HG00140.hp2 HG01258.hp2 HG01496.hp1 HG02071.hp2 HG02155.hp1 HG03041.hp2 HG03239.hp1 HG04228.hp1 HG06807.hp2 NA18959.hp1 NA18966.hp1 NA18975.hp1 NA18978.hp2 NA18984.hp1 NA18994.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19077.hp2 NA19085.hp1 NA19085.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0002 a0001c0001t0001g0082 a0001c0001t0001g0127 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0082 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0316 a0001c0001t0002g0074 a0002c0002t0001g0015 a0002c0002t0001g0055 a0002c0002t0001g0077 a0002c0002t0001g0129 a0002c0002t0001g0156 a0002c0002t0001g0187 a0002c0002t0005g0031	22	79	0.2785	30	c.-92 others(39): Show c.-928_-927insTATATATATATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414687	C C	CACACACA others(23): Show CACACACACAGTGTGTATATAGTATGTATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp1 HG03579.hp2 others(2): Show HG02055.hp1 HG03225.hp1 HG03579.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 others(2): Show a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0244	5	314	0.0159	30	c.233 others(49): Show c.2334-1395_2334-1394insATATACATACTATATACACACTGTGT GTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414757	C C	CAGTGTGT others(23): Show CAGTGTGTATATAGTATGTACACACACACAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	305	0.0033	30	c.233 others(49): Show c.2334-1494_2334-1465dupATGTGTGTGTGTACATACTATATACA CACT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414872	A A	AATATAGT others(23): Show AATATAGTGTGTATATAGTATGCACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp2 HG03942.hp2 others(1): Show HG03017.hp1 HG03239.hp2 HG03942.hp2 NA20752.hp1	a0002 a0011 a0002 a0011	a0002c0004 a0011c0011 a0002c0004 a0011c0011	a0002c0004t0001 a0011c0011t0001 a0002c0004t0001 a0011c0011t0001	a0002c0004t0001g0076 a0002c0004t0001g0078 a0002c0004t0001g0079 others(1): Show a0002c0004t0001g0076 a0002c0004t0001g0078 a0002c0004t0001g0079 a0011c0011t0001g0117	4	138	0.0290	30	c.233 others(49): Show c.2334-1580_2334-1579insGTGTGTGTGCATACTATATACACACT ATAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37360218	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0259 a0001c0001t0018g0259	1	171	0.0058	30	c.-24 others(49): Show c.-246-4966_-246-4965insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37373435	A A	ACGCATAT others(23): Show ACGCATATATACGCATATATGCGTATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG02145.hp1 others(5): Show HG00741.hp1 HG01167.hp1 HG02145.hp1 HG02622.hp1 HG02717.hp2 HG02970.hp2 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0027 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034	a0001c0001t0005g0088 a0001c0001t0005g0110 a0001c0001t0005g0237 others(5): Show a0001c0001t0005g0088 a0001c0001t0005g0110 a0001c0001t0005g0237 a0001c0001t0005g0274 a0001c0001t0011g0273 a0001c0001t0027g0147 a0001c0001t0033g0236 a0001c0001t0034g0093	8	280	0.0286	30	c.-17 others(49): Show c.-173+8179_-173+8180insGTATATATGCGCATATATACGCATAT ATGC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SREBF1_chr17_17806334_17841986	17808414	A A	ATTTTATT others(23): Show ATTTTATTATTTTATTTTATTTTATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0237 a0001c0004t0012g0237	1	254	0.0039	30	c.42 others(41): Show c.4207_*4208insAATAAAATAAAATAAAATAAAATAATAAAA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		2919		chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	194	0.0052	30	c.91+ others(45): Show c.91+7521_91+7522insATATATATTTTTTTTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18522.hp2 HG02723.hp1 NA18522.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0021 a0001c0001 a0015c0021	a0001c0001t0039 a0015c0021t0003 a0001c0001t0039 a0015c0021t0003	a0001c0001t0039g0152 a0015c0021t0003g0140 a0001c0001t0039g0152 a0015c0021t0003g0140	2	195	0.0103	30	c.91+ others(45): Show c.91+7521_91+7522insATATATATATATTTTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF2_chr22_41828105_41912305	41833037	G G	GGGGGGCG others(23): Show GGGGGGCGCGCGGCCTGGAGGCGGGGCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0325 a0002c0002t0003g0330 a0002c0002t0003g0325 a0002c0002t0003g0330	2	334	0.0060	30	c.-23 others(39): Show c.-234_-233insGGGGGCGCGCGGCCTGGAGGCGGGGCCGCA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding		67		chr22	TogoVar
SRGAP1_chr12_63839700_64167217	63913480	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19084.hp2 NA18963.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0117 a0001c0001t0007 a0001c0001t0117	a0001c0001t0007g0077 a0001c0001t0117g0078 a0001c0001t0007g0077 a0001c0001t0117g0078	2	101	0.0198	30	c.67+ others(47): Show c.67+68608_67+68609insTATATATATATATATATGGATATATATA TA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63919499	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0137 a0001c0002t0003g0137	1	64	0.0156	30	c.68- others(47): Show c.68-64425_68-64424insTATATATATATATATATATATATATATA TA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63948825	C C	CATATATA others(23): Show CATATATATATTCCATATATATATTTTCCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02698.hp2 HG03490.hp1 others(5): Show HG00408.hp2 HG02698.hp2 HG03490.hp1 HG03492.hp1 NA18948.hp1 NA18968.hp1 NA18979.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0105 a0001c0001t0108 a0001c0001t0122 others(5): Show a0001c0001t0105 a0001c0001t0108 a0001c0001t0122 a0001c0001t0124 a0001c0002t0033 a0001c0002t0040 a0001c0002t0049 a0002c0004t0151	a0001c0001t0105g0067 a0001c0001t0108g0026 a0001c0001t0122g0073 others(5): Show a0001c0001t0105g0067 a0001c0001t0108g0026 a0001c0001t0122g0073 a0001c0001t0124g0139 a0001c0002t0033g0025 a0001c0002t0040g0034 a0001c0002t0049g0024 a0002c0004t0151g0109	8	153	0.0523	30	c.68- others(47): Show c.68-35023_68-34994dupATTCCATATATATATTTTCCATATATAT AT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63948825	C C	CATATATA others(23): Show CATATATATATTCCATATATATGTTTTCCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp2 NA20905.hp1 HG00639.hp1 HG01496.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0075 a0001c0002t0012 a0001c0002t0029 a0001c0001t0075 a0001c0002t0012 a0001c0002t0029	a0001c0001t0075g0131 a0001c0002t0012g0145 a0001c0002t0029g0112 a0001c0001t0075g0131 a0001c0002t0012g0145 a0001c0002t0029g0112	3	148	0.0203	30	c.68- others(47): Show c.68-35101_68-35100insGTTTTCCATATATATATATTCCATATAT AT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03688.hp2 HG04184.hp1 others(3): Show HG01243.hp1 HG03688.hp2 HG04184.hp1 NA18988.hp1 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0068 a0001c0001t0112 a0001c0002t0005 others(3): Show a0001c0001t0068 a0001c0001t0112 a0001c0002t0005 a0001c0002t0029 a0001c0002t0055 a0001c0002t0131	a0001c0001t0068g0163 a0001c0001t0112g0152 a0001c0002t0005g0158 others(3): Show a0001c0001t0068g0163 a0001c0001t0112g0152 a0001c0002t0005g0158 a0001c0002t0029g0112 a0001c0002t0055g0061 a0001c0002t0131g0140	6	20	0.3000	30	c.490 others(47): Show c.490-3159_490-3130dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882697	G G	GGGGCACA others(23): Show GGGGCACAAAGACGCAAAAAGCCGCGGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	53	0.0189	30	c.94 others(41): Show c.9462_*9463insGCCGCCGCGGCTTTTTGCGTCTTTGTGCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4590		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144882697	G G	GGGGCACA others(23): Show GGGGCACAAAGACGCAAAAAGCCGCGGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	53	0.0189	30	c.94 others(41): Show c.9462_*9463insGCCACCGCGGCTTTTTGCGTCTTTGTGCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4590		chr1	TogoVar
SRGN_chr10_69083103_69109805	69100987	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	407	0.0025	30	c.228 others(47): Show c.228-2883_228-2882insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
SRMS_chr20_63533489_63552749	63540396	G G	GGGCTCAG others(23): Show GGGCTCAGGGTTCCTCACCCAGAGCCTCCGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0035 a0002c0003t0035	a0002c0003t0035g0048 a0002c0003t0035g0048	1	354	0.0028	30	c.39 others(39): Show c.392_*421dupTCGGAGGCTCTGGGTGAGGAACCCTGAGCC	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding	8/8	421		chr20	TogoVar
SRP54_chr14_34977992_35034567	35007644	A A	ATAAAATA others(23): Show ATAAAATATATTTACATAAAATAGATTTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00597.hp1 others(68): Show HG00099.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp2 NA18970.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA19006.hp2 NA19007.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19067.hp2 NA19070.hp2 NA19081.hp1 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0002g0010 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264	71	352	0.2017	30	c.360 others(45): Show c.360+364_360+393dupAAAATAGATTTTATTAAAATATATTTACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00639.hp2 others(31): Show HG00323.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01243.hp1 HG01516.hp1 HG01517.hp1 HG02004.hp1 HG02040.hp2 HG02135.hp1 HG02148.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02895.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 NA18522.hp2 NA18945.hp1 NA18952.hp2 NA18975.hp1 NA18994.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 a0001c0001t0001 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0066 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0012g0159 a0001c0001t0021g0333	34	121	0.2810	30	c.478 others(47): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT TT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105168745	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	67	0.0149	30	c.338 others(45): Show c.338+382_338+411dupCACACACACACACACACACACACACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	4/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105176585	A A	ATGTATAT others(23): Show ATGTATATATGTGTGTGTGTGTGTATGTATG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	168	0.0060	30	c.230 others(47): Show c.230-7321_230-7320insCATACATACACACACACACACATATATA CA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	15	0.0667	30	c.164 others(47): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG02300.hp2 others(6): Show HG00621.hp2 HG00735.hp1 HG02300.hp2 HG03516.hp2 HG03831.hp2 HG04228.hp2 NA18986.hp2 NA19070.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0048 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0085 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0001t0001g0264 a0001c0001t0007g0258	9	123	0.0732	30	c.-28 others(41): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(23): Show AATATATATATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	73	0.0137	30	c.726 others(45): Show c.726-386_726-385insCATATATATATATATATATATATATATATA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03831.hp2 NA18949.hp2 others(2): Show HG00733.hp2 HG03831.hp2 NA18949.hp2 NA18971.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0085 a0001c0001t0001g0135 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0085 a0001c0001t0001g0135 a0001c0001t0001g0232 a0001c0001t0001g0233	5	77	0.0649	30	c.726 others(45): Show c.726-400_726-371dupATATATATATATATATATATATATATATAT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02040.hp2 HG02083.hp1 others(4): Show HG00609.hp2 HG02040.hp2 HG02083.hp1 NA18953.hp1 NA18955.hp1 NA18966.hp2 NA18992.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	7	291	0.0241	30	c.-27 others(41): Show c.-2763_-2762insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding		2728		chr19	TogoVar
SRSF12_chr6_89090959_89123071	89099413	T T	TATACACA others(23): Show TATACACACATATATATGTGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0117 a0001c0001t0027g0117	1	112	0.0089	30	c.417 others(45): Show c.417-467_417-466insGTATATATACACACATATATATGTGTGTAT	SRSF12	ENSG00000154548.9	transcript	ENST00000452027.3	protein_coding	4/4			chr6	TogoVar
SRXN1_chr20_641615_658200	641972	G G	GGGGGGGG others(23): Show GGGGGGGGCCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01975.hp2 HG01993.hp1 others(2): Show HG01884.hp1 HG01975.hp2 HG01993.hp1 HG02895.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0035 a0001c0001t0002g0135 a0001c0001t0003g0003 others(1): Show a0001c0001t0001g0035 a0001c0001t0002g0135 a0001c0001t0003g0003 a0001c0001t0003g0130	5	419	0.0119	30	c.67 others(41): Show c.6741_*6742insAGGCAACTCCACCCCCGCTGGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4642		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 NA18522.hp2 HG01891.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0055 a0001c0001t0054 a0001c0001t0055	a0001c0001t0054g0012 a0001c0001t0055g0120 a0001c0001t0054g0012 a0001c0001t0055g0120	2	72	0.0278	30	c.45 others(41): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	76	0.0132	30	c.283 others(49): Show c.283-29130_283-29101dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81712610	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAATAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0206 a0001c0001t0044g0206	1	202	0.0050	30	c.62+ others(47): Show c.62+38370_62+38371insATTTTTTTTTTTTTTATTTTTTTTTTTT TT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81712610	A A	AAAAAAAA others(23): Show AAAAAAAAAAATAAATAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0041 a0001c0001t0043g0041	1	202	0.0050	30	c.62+ others(47): Show c.62+38370_62+38371insATTTTTTTTTTTTTTATTTATTTTTTTT TT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81712610	A A	AAAAAAAA others(23): Show AAAAAAAATAAAAAATAAAAAATAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	202	0.0050	30	c.62+ others(47): Show c.62+38370_62+38371insATTTTTTTATTTTTTATTTTTTATTTTT TT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0265 a0001c0001t0047g0265	1	126	0.0079	30	c.927 others(47): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 NA19043.hp1 HG01891.hp2 HG02976.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0026 a0001c0001t0004 a0001c0002t0026	a0001c0001t0004g0045 a0001c0002t0026g0234 a0001c0002t0026g0235 a0001c0001t0004g0045 a0001c0002t0026g0234 a0001c0002t0026g0235	3	57	0.0526	30	c.277 others(49): Show c.277-17433_277-17404dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19007.hp1 HG02886.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0073 a0001c0001t0017g0200 a0001c0001t0002g0073 a0001c0001t0017g0200	2	77	0.0260	30	c.276 others(49): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSB_chr2_169793871_169817064	169800534	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02895.hp2 HG02897.hp1 HG01070.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0073 a0001c0001t0002g0037 a0001c0001t0002g0073	3	11	0.2727	30	c.-9- others(43): Show c.-9-399_-9-398insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SSC5D_chr19_55483436_55524099	55495216	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0254	1	337	0.0030	30	c.138 others(47): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT AT	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(23): Show ATATATATATATATATATATATATATAATTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0406 a0001c0010t0001g0406	1	190	0.0053	30	c.138 others(47): Show c.1387+451_1387+452insATATATATATATATATATATATATAATT TT	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(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0001 a0021c0032t0001	a0021c0032t0001g0058 a0021c0032t0001g0058	1	190	0.0053	30	c.138 others(47): Show c.1387+451_1387+452insATATATATATATATATATATATATATTT TT	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(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	190	0.0053	30	c.138 others(47): Show c.1387+451_1387+452insATATATATATATATATATATATATTTTT TT	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(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	190	0.0053	30	c.138 others(47): Show c.1387+451_1387+452insATATATATATATATATATTTTTTTTTTT TT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	85	0.0118	30	c.63+ others(47): Show c.63+16590_63+16591insATATATATATATATAATTTTTTTTTTTT TT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	284	0.0035	30	c.20 others(41): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
SSU72_chr1_1536673_1579863	1567691	T T	TGGCTCAC others(23): Show TGGCTCACTTGAGGTCAGGAGTTCAACACCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	384	0.0026	30	c.81- others(45): Show c.81-2776_81-2775insTGGTGTTGAACTCCTGACCTCAAGTGAGCC	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/4			chr1	TogoVar

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