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
RGPD4_chr2_107821892_107897544	107828332	GGCGGCGG others(83): Show GGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCGCTGCTC CCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0201 a0006c0007t0005g0201	1	339	0.0029	-90	c.72+ others(105): Show c.72+1286_72+1375delCGGCGCTGCTCCCTGGCGTGCTCTGTTGAG GCGGCGGCCTCGACCCGGCCCCGCGGCGGCCTCGATGGCTCAGGCGTCAT GGCTCCCGAC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107829203	CCATGGCT others(83): Show CCATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCT CTGTTGAGGCGGCGGCCTTGACCCGGCCCGGCGGCGGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02717.hp1 others(7): Show HG02257.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp1	a0006 a0006	a0006c0007 a0006c0008 a0006c0007 a0006c0008	a0006c0007t0005 a0006c0008t0005 a0006c0008t0012 a0006c0007t0005 a0006c0008t0005 a0006c0008t0012	a0006c0007t0005g0196 a0006c0007t0005g0201 a0006c0008t0005g0205 others(7): Show a0006c0007t0005g0196 a0006c0007t0005g0201 a0006c0008t0005g0205 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0005g0209 a0006c0008t0012g0203 a0006c0008t0012g0204 a0006c0008t0012g0210	10	372	0.0269	-90	c.72+ others(105): Show c.72+2119_72+2208delCATGGCTCAGGCGTCATGGCTCCCGACGGG CGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTTGACCCGGCCCGG CGGCGGCCTG	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107829276	CGGCCCGG others(83): Show CGGCCCGGCGGCGGCCTGGATGGCTCAGGCGTCATGGCTCCCGATGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18974.hp1 NA18993.hp2 HG00558.hp1 NA18974.hp1 NA18993.hp2	a0001 a0003 a0052 a0001 a0003 a0052	a0001c0043 a0003c0002 a0052c0042 a0001c0043 a0003c0002 a0052c0042	a0001c0043t0001 a0003c0002t0003 a0052c0042t0004 a0001c0043t0001 a0003c0002t0003 a0052c0042t0004	a0001c0043t0001g0363 a0003c0002t0003g0023 a0052c0042t0004g0364 a0001c0043t0001g0363 a0003c0002t0003g0023 a0052c0042t0004g0364	3	215	0.0140	-90	c.72+ others(105): Show c.72+2208_72+2297delGGATGGCTCAGGCGTCATGGCTCCCGATGG GCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGCCCG GCGGCGGCCT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107829320	TGGGCGCT others(83): Show TGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGC CCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTACCGAC	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01123.hp1 others(10): Show HG00099.hp2 HG01099.hp2 HG01123.hp1 HG01257.hp1 HG01361.hp2 HG01516.hp2 HG02602.hp2 HG02683.hp2 HG03491.hp2 HG04115.hp1 NA19079.hp1 NA19086.hp1 NA20129.hp2	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0030 a0038 a0054	a0002c0003 a0003c0002 a0004c0004 others(3): Show a0002c0003 a0003c0002 a0004c0004 a0030c0052 a0038c0075 a0054c0065	a0002c0003t0042 a0003c0002t0003 a0004c0004t0002 others(3): Show a0002c0003t0042 a0003c0002t0003 a0004c0004t0002 a0030c0052t0002 a0038c0075t0006 a0054c0065t0003	a0002c0003t0042g0091 a0003c0002t0003g0024 a0003c0002t0003g0027 others(10): Show a0002c0003t0042g0091 a0003c0002t0003g0024 a0003c0002t0003g0027 a0003c0002t0003g0028 a0003c0002t0003g0029 a0003c0002t0003g0030 a0003c0002t0003g0031 a0004c0004t0002g0101 a0004c0004t0002g0129 a0004c0004t0002g0132 a0030c0052t0002g0176 a0038c0075t0006g0020 a0054c0065t0003g0022	13	166	0.0783	-90	c.72+ others(105): Show c.72+2235_72+2324delTGGGCGCTGCTCCCTGGCGCGCTCTGTTGA GGCGGCGGCCTCTACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCA TGGCTACCGA	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107829519	CGCTCTGT others(83): Show CGCTCTGTTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGG CTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCAGGCGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02717.hp1 others(7): Show HG02257.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp1	a0006 a0006	a0006c0007 a0006c0008 a0006c0007 a0006c0008	a0006c0007t0005 a0006c0008t0005 a0006c0008t0012 a0006c0007t0005 a0006c0008t0005 a0006c0008t0012	a0006c0007t0005g0196 a0006c0007t0005g0201 a0006c0008t0005g0205 others(7): Show a0006c0007t0005g0196 a0006c0007t0005g0201 a0006c0008t0005g0205 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0005g0209 a0006c0008t0012g0203 a0006c0008t0012g0204 a0006c0008t0012g0210	10	372	0.0269	-90	c.72+ others(105): Show c.72+2449_72+2538delGCGGCCTCGACCTGGCCCGGCGGCGGCCTC GATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCAGGCGGGCTC TGTTGAGGCG	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS22_chr8_99955936_100111049	100051594	AATATATA others(83): Show AATATATATTTATATATGTTTATACATATATAAATATATATTTATATATG TTTATACATATATAAATATATATTTATATATGTTTATACAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01433.hp1 HG02004.hp2 others(6): Show HG00621.hp1 HG01433.hp1 HG02004.hp2 HG02056.hp2 HG02165.hp2 HG02523.hp1 HG02523.hp2 NA19057.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0137 a0001c0001t0001g0175 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0220	9	307	0.0293	-90	c.168 others(109): Show c.1689+1118_1689+1207delATGTATAAACATATATAAATATATAT TTATATATGTATAAACATATATAAATATATATTTATATATGTATAAACAT ATATAAATATATAT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS7_chr1_240770514_241362205	241327038	GGGAGGGA others(83): Show GGGAGGGAGGGGAAAGGAAGGAAGAAGGAAGGAAGGAAGGAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02258.hp1 HG03453.hp2 others(3): Show HG01981.hp1 HG02258.hp1 HG03453.hp2 HG03579.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0108 a0001c0001t0002g0067	6	112	0.0536	-90	c.78+ others(107): Show c.78+28571_78+28660delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTCTTCCTTCCTTCCTTCCTTCTTCCTTCCTT TCCCCTCCCTCC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RNF213_chr17_80255852_80403794	80260514	CCGGCGGC others(83): Show CCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAG GGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0086 a0086	a0086c0067 a0086c0067	a0086c0067t0004 a0086c0067t0004	a0086c0067t0004g0199 a0086c0067t0004g0199	1	67	0.0149	-90	c.-49 others(99): Show c.-496_-407delCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGG CCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		337		chr17	TogoVar
RNF213_chr17_80255852_80403794	80314436	ATGGTGGA others(83): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0022 a0022	a0022c0022 a0022c0022	a0022c0022t0003 a0022c0022t0003	a0022c0022t0003g0169 a0022c0022t0003g0170 a0022c0022t0003g0169 a0022c0022t0003g0170	2	285	0.0070	-90	c.281 others(109): Show c.2811+1276_2811+1365delAGGTAATGGAGGTGATGGTGGTGATG GTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGA GGTGATGGTGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314643	GCGGTCGT others(83): Show GCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGT GGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03654.hp2 NA18945.hp2 others(3): Show HG02723.hp1 HG03654.hp2 NA18945.hp2 NA18986.hp2 NA19087.hp2 NA20300.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0102	a0001c0001 a0002c0002 a0008c0028 others(1): Show a0001c0001 a0002c0002 a0008c0028 a0102c0127	a0001c0001t0001 a0001c0001t0059 a0002c0002t0008 others(3): Show a0001c0001t0001 a0001c0001t0059 a0002c0002t0008 a0002c0002t0035 a0008c0028t0009 a0102c0127t0009	a0001c0001t0001g0288 a0001c0001t0059g0286 a0002c0002t0008g0041 others(3): Show a0001c0001t0001g0288 a0001c0001t0059g0286 a0002c0002t0008g0041 a0002c0002t0035g0149 a0008c0028t0009g0244 a0102c0127t0009g0062	6	290	0.0207	-90	c.281 others(109): Show c.2811+1477_2811+1566delCGGTCGTGGAGGTGATGGTGGAGGTA ATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGA GGTAATGGAGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314967	TAGGTGAT others(83): Show TAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG06807.hp1 others(1): Show HG01168.hp2 HG01169.hp2 HG06807.hp1 NA19030.hp2	a0011 a0011	a0011c0036 a0011c0037 a0011c0036 a0011c0037	a0011c0036t0012 a0011c0036t0033 a0011c0037t0012 a0011c0036t0012 a0011c0036t0033 a0011c0037t0012	a0011c0036t0012g0281 a0011c0036t0033g0282 a0011c0037t0012g0280 others(1): Show a0011c0036t0012g0281 a0011c0036t0033g0282 a0011c0037t0012g0280 a0011c0037t0012g0283	4	159	0.0252	-90	c.281 others(109): Show c.2811+1813_2811+1902delAGGTGATGGTGGTGGTGAAGGTGATG GTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAAT GGAGGTGATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315057	GAGGTGAT others(83): Show GAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGT GGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0045 a0001c0004t0002g0045	1	289	0.0035	-90	c.281 others(109): Show c.2811+1903_2811+1992delTGGTGAAGGTGATGGTGGAGGTAATG GAGGTGATGGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGT AAAGGTGATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1077103	GCTACGGG others(83): Show GCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGG GGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02572.hp2 others(4): Show HG01884.hp2 HG02109.hp2 HG02572.hp2 HG02886.hp1 HG02970.hp1 HG03139.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0005	7	228	0.0307	-90	c.-31 others(101): Show c.-3187_-3098delACTCAGCCTCCCCGCACGGAGTCCCCATAGACTC AGCCACCCCTCACGGAGTCCCCGTAGACTCAGCCTCCCCGCACGGAGTCC CCGTAG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2798		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078021	CGGGAGGC others(83): Show CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	209	0.0048	-90	c.-41 others(101): Show c.-4105_-4016delCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAA CGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGACTCAG CCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3716		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078033	TCTATGGG others(83): Show TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA20300.hp1 HG03130.hp2 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	2	89	0.0225	-90	c.-41 others(101): Show c.-4117_-4028delCCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTC AGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCC CCATAG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3728		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078110	CGGGGAGG others(83): Show CGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0028 a0002c0003t0013g0028	1	132	0.0076	-90	c.-41 others(101): Show c.-4194_-4105delCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCAC GGAGTCCCCATAGCCTCAGCGTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3805		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078205	AGGCTGAG others(83): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG06807.hp2 HG02647.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0006g0011 a0002c0002t0001g0003 a0001c0001t0006g0011 a0002c0002t0001g0003	2	254	0.0079	-90	c.-42 others(101): Show c.-4289_-4200delACCCCTCACGGAGTCCCCATAGACGCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3900		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078671	GACTCCGT others(83): Show GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	322	0.0031	-90	c.-47 others(101): Show c.-4755_-4666delGCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGT	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4366		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078745	AGGCTGAG others(83): Show AGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	318	0.0031	-90	c.-48 others(101): Show c.-4829_-4740delACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTGCCCATAGCC TCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4440		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078835	TGGCTGAG others(83): Show TGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02129.hp2 HG02165.hp2 others(2): Show HG02027.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	164	0.0305	-90	c.-49 others(101): Show c.-4919_-4830delTCCCCGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4530		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116841806	AATATATA others(83): Show AATATATATATAAAAATATATATATATAAATATATATATAAATATATATA AAAATATATATATAAATATATATATAAATATATATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG04184.hp2 HG01192.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0022 a0001c0001t0012 a0001c0001t0022	a0001c0001t0012g0261 a0001c0001t0022g0225 a0001c0001t0012g0261 a0001c0001t0022g0225	2	262	0.0076	-90	c.120 others(109): Show c.1200+5538_1200+5627delAATATATATATATAAATATATATATA AATATATATAAAAATATATATATAAATATATATATAAATATATATAAAAA TATATATATATAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO2_chr3_77035099_77654964	77317784	GGGGGGCT others(83): Show GGGGGGCTGCTAGGGGGGCTGCTGGGGGGGCTGCTGGGGGGCTGCTGGGG GGCTGCTAGGGGGCTGCTGGGGGGCTGCTGGGGGGGCTGCT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0011 a0001c0001t0037g0011	1	160	0.0063	-90	c.389 others(111): Show c.389-159624_389-159535delCTGCTAGGGGGGCTGCTGGGGGGG CTGCTGGGGGGCTGCTGGGGGGCTGCTAGGGGGCTGCTGGGGGGCTGCTG GGGGGGCTGCTGGGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	334792	AGGACAGG others(83): Show AGGACAGGGACAAGGCAACCACCCCCAGCAAGTGCGGCTCCTTCTCCCCA CGCCTTCCCCCAGGGCCAGCCCATCCACTGCGGAGGGACAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(48): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG01070.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01515.hp2 HG01884.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03453.hp2 HG03831.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18947.hp1 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0015 a0002c0011 a0003c0005 a0004c0013 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0029 a0001c0003t0001 a0001c0003t0018 a0001c0006t0004 a0001c0008t0001 a0001c0015t0007 a0002c0011t0001 a0003c0005t0005 a0003c0005t0023 a0004c0013t0003 a0007c0014t0018 a0008c0010t0003	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(48): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0004g0021 a0001c0001t0004g0092 a0001c0001t0005g0017 a0001c0001t0008g0113 a0001c0001t0009g0094 a0001c0001t0010g0129 a0001c0001t0011g0007 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0012g0053 a0001c0001t0015g0037 a0001c0001t0015g0041 a0001c0001t0016g0081 a0001c0001t0017g0099 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0021g0077 a0001c0001t0022g0071 a0001c0001t0024g0082 a0001c0001t0025g0076 a0001c0001t0027g0118 a0001c0001t0032g0004 a0001c0001t0037g0058 a0001c0002t0001g0123 a0001c0002t0003g0090 a0001c0002t0009g0126 a0001c0002t0029g0103 a0001c0003t0001g0075 a0001c0003t0018g0019 a0001c0006t0004g0022 a0001c0008t0001g0044 a0001c0015t0007g0026 a0002c0011t0001g0016 a0003c0005t0005g0035 a0003c0005t0023g0125 a0004c0013t0003g0036 a0007c0014t0018g0102 a0008c0010t0003g0084	51	132	0.3864	-90	c.-21 others(107): Show c.-212-948_-212-859delCTGTCCCTCCGCAGTGGATGGGCTGGCC CTGGGGGAAGGCGTGGGGAGAAGGAGCCGCACTTGCTGGGGGTGGTTGCC TTGTCCCTGTCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	CCCTTTCC others(83): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG01361.hp2 others(2): Show HG00140.hp2 HG01168.hp2 HG01361.hp2 HG01934.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0027 a0001c0004 a0001c0010 a0001c0027	a0001c0004t0014 a0001c0010t0056 a0001c0010t0071 others(1): Show a0001c0004t0014 a0001c0010t0056 a0001c0010t0071 a0001c0027t0016	a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0010t0056g0187 others(2): Show a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0027t0016g0189	5	94	0.0532	-90	c.348 others(109): Show c.348+21604_348+21693delTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744163	CCCTGGTT others(83): Show CCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG00741.hp1 HG01167.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0051 a0001c0025t0052 a0001c0025t0051 a0001c0025t0052	a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0025t0051g0174 a0001c0025t0052g0181	2	185	0.0108	-90	c.655 others(107): Show c.655-9841_655-9752delTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744281	TAGCACTG others(83): Show TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACG	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0190 a0001c0003t0001g0190	1	185	0.0054	-90	c.655 others(107): Show c.655-9723_655-9634delTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSU1_chr10_16585611_16822424	16645975	TGTGTATA others(83): Show TGTGTATATACATATATGTGTATATATATGTGTATATACATATATGTGTA TATATATGTGTATATACATATATGTGTATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	187	0.0053	-90	c.731 others(109): Show c.731+48958_731+49047delGTGTATATATATATACACATATATGT ATATACACATATATATACACATATATGTATATACACATATATATACACAT ATATGTATATACAC	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTL4_chrX_112078016_112462514	112236404	GATATAGA others(83): Show GATATAGATCTATATCTATATATAGATATAGATCTATATCTATATATAGA TATAGATCTATATCTATATATAGATATAGATCTATATCTAT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	132	0.0076	-90	c.-44 others(111): Show c.-444-69948_-444-69859delCTATATCTATATATAGATATAGAT CTATATCTATATATAGATATAGATCTATATCTATATATAGATATAGATCT ATATCTATATATAGAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RUNX1_chr21_34782801_35054302	34974960	ATAGATGT others(83): Show ATAGATGTGGAAACTAGGCTCAGAGTGATTGGATAAATTGCCCATATGCT AAAAGAGAAGGCAAGCAAGTGTAATACTAGGCAGAGCCAGC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG02451.hp2 others(9): Show HG00741.hp2 HG01109.hp1 HG02451.hp2 HG02723.hp1 HG02886.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 NA19043.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0025 a0001c0002t0003 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0002g0088 others(9): Show a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0002g0088 a0001c0001t0002g0125 a0001c0001t0005g0129 a0001c0001t0007g0015 a0001c0001t0019g0134 a0001c0001t0025g0116 a0001c0002t0003g0085 a0001c0003t0001g0011 a0001c0003t0001g0162 a0001c0007t0001g0156	12	168	0.0714	-90	c.58+ others(107): Show c.58+73792_58+73881delGCTGGCTCTGCCTAGTATTACACTTGCT TGCCTTCTCTTTTAGCATATGGGCAATTTATCCAATCACTCTGAGCCTAG TTTCCACATCTA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SARDH_chr9_133658560_133743352	133668911	TCTCTCTC others(83): Show TCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTC TCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0191	1	259	0.0039	-90	c.249 others(109): Show c.2495+1583_2495+1672delGGTGAGGGAGATGGAGGGTGAGGGAG AGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAG GGAAGGAGAGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBF2_chr11_9773668_10299219	9828866	TCCCACTT others(83): Show TCCCACTTCCTCTCCAATTACTCTTTTGAAAAGGAAATAACTGAGCTGGG TATGATAAATATGGGAATAAAGGGTGACTTTATTTATATTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02897.hp2 others(1): Show HG02145.hp2 HG02809.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0184 a0001c0001t0002g0189 a0001c0001t0005g0171 others(1): Show a0001c0001t0001g0184 a0001c0001t0002g0189 a0001c0001t0005g0171 a0001c0001t0005g0190	4	222	0.0180	-90	c.379 others(107): Show c.3793+400_3793+489delGAATATAAATAAAGTCACCCTTTATTCC CATATTTATCATACCCAGCTCAGTTATTTCCTTTTCAAAAGAGTAATTGG AGAGGAAGTGGG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	28/39			chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288403	CCGTGTCC others(83): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	285	0.0035	-90	c.166 others(107): Show c.1662+368_1662+457delGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289453	CCGTGTCT others(83): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	282	0.0035	-90	c.166 others(107): Show c.1663-816_1663-727delGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289480	TCTGCTCC others(83): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18969.hp2 NA19082.hp1 HG03688.hp1 NA18969.hp2 NA19082.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0014 a0001c0001 a0002c0002 a0009c0014	a0001c0001t0002 a0002c0002t0001 a0009c0014t0001 a0001c0001t0002 a0002c0002t0001 a0009c0014t0001	a0001c0001t0002g0211 a0002c0002t0001g0053 a0009c0014t0001g0052 a0001c0001t0002g0211 a0002c0002t0001g0053 a0009c0014t0001g0052	3	273	0.0110	-90	c.166 others(107): Show c.1663-760_1663-671delCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289910	CCGTGTCT others(83): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	285	0.0035	-90	c.166 others(107): Show c.1663-359_1663-270delGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289955	TCTGCTCC others(83): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19004.hp2 NA18960.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0083 a0002c0002t0001g0068 a0002c0002t0001g0083	2	281	0.0071	-90	c.166 others(107): Show c.1663-303_1663-214delCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4139503	GTATATGT others(83): Show GTATATGTATATATGTGTGTGTATGTGTGTGTGTATATATGTGTGTGTAT ATGTATATATGTGTGTATATGTGTGTGTGTATGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0067 a0001c0008t0007g0067	1	116	0.0086	-90	c.422 others(109): Show c.4229-6215_4229-6126delATGTATATATGTGTGTGTATGTGTGT GTGTATATATGTGTGTGTATATGTATATATGTGTGTATATGTGTGTGTGT ATGTGTGTGTATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	28/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SELENOI_chr2_26341143_26400885	26370702	CCCTCACC others(83): Show CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0026 a0001c0007t0026	a0001c0007t0026g0109 a0001c0007t0026g0109	1	332	0.0030	-90	c.311 others(107): Show c.311-2621_311-2532delCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGAC	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN8_chr5_132745819_132782239	132770059	GTGTGTAT others(83): Show GTGTGTATATATATATATATATGTATATATGTATATATATATGTATATAT GTATATATATATATATGTATATATGTGTATGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02027.hp2 HG03130.hp2 HG01361.hp2 HG02027.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0001g0089 a0001c0001t0002g0102 a0001c0001t0001g0033 a0001c0001t0001g0089 a0001c0001t0002g0102	3	324	0.0093	-90	c.31- others(105): Show c.31-4620_31-4531delTATACACACACATACACATATATACATATA TATATATATACATATATACATATATATATACATATATACATATATATATA TATATACACA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SEPTIN8_chr5_132745819_132782239	132770061	GTGTATAT others(83): Show GTGTATATATATATATATATGTATATATGTATATATATATGTATATATGT ATATATATATATATGTATATATGTGTATGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	297	0.0034	-90	c.31- others(105): Show c.31-4622_31-4533delTATATACACACACATACACATATATACATA TATATATATATACATATATACATATATATATACATATATACATATATATA TATATATACA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SEPTIN8_chr5_132745819_132782239	132770063	GTATATAT others(83): Show GTATATATATATATATATGTATATATGTATATATATATGTATATATGTAT ATATATATATATGTATATATGTGTATGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA21309.hp2 HG01167.hp2 HG01169.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0095 a0002c0004t0001g0030 a0001c0001t0001g0095 a0002c0004t0001g0030	3	88	0.0341	-90	c.31- others(105): Show c.31-4624_31-4535delTATATATACACACACATACACATATATACA TATATATATATATACATATATACATATATATATACATATATACATATATA TATATATATA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SERPINF2_chr17_1737871_1760265	1738865	GGCCTGAT others(83): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG02109.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	2	316	0.0063	-90	c.-40 others(101): Show c.-4047_-3958delGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		4005		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	AGCCTGAT others(83): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG03453.hp2 NA18940.hp2 others(1): Show HG02040.hp1 HG03453.hp2 NA18940.hp2 NA18995.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0007 a0003c0003t0001g0012 a0003c0003t0001g0080 others(1): Show a0003c0003t0001g0007 a0003c0003t0001g0012 a0003c0003t0001g0080 a0003c0003t0004g0007	4	310	0.0129	-90	c.-37 others(101): Show c.-3777_-3688delGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739673	GGCCTGAT others(83): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	1	250	0.0040	-90	c.-32 others(101): Show c.-3239_-3150delGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3197		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740167	GAGCCTGA others(83): Show GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0044	1	409	0.0024	-90	c.-27 others(101): Show c.-2745_-2656delAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTG GGAAGT	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2703		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740234	CACAGGAC others(83): Show CACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(24): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00609.hp2 HG00738.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG02004.hp2 HG02129.hp2 HG02148.hp2 HG03239.hp2 HG03491.hp2 NA18612.hp1 NA18977.hp1 NA19043.hp2 NA19078.hp1 NA19084.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0015 a0003c0003 a0003c0006 a0003c0015	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(3): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0019 a0003c0006t0001 a0003c0015t0001	a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0022 others(14): Show a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0022 a0003c0003t0001g0026 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0105 a0003c0003t0001g0117 a0003c0003t0002g0107 a0003c0003t0004g0026 a0003c0003t0004g0108 a0003c0003t0019g0109 a0003c0006t0001g0004 a0003c0006t0001g0113 a0003c0015t0001g0004	27	344	0.0785	-90	c.-26 others(101): Show c.-2678_-2589delACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2636		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740933	GGCCTGAT others(83): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCT GATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	438	0.0023	-90	c.-19 others(101): Show c.-1979_-1890delGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		1937		chr17	TogoVar
SIGIRR_chr11_400716_419999	402540	CCGCTCAC others(83): Show CCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCC GACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	240	0.0042	-90	c.32 others(101): Show c.3266_*3355delTCGGGGGTGAGCGGGGCCGGGGGTCGGGGGTGAG CGGGGTCGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTCGGGGG TGAGCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3175		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1047095	GTTAGTGT others(83): Show GTTAGTGTGCAAATGAATGGGTGAGTTTGTGAATGGGTTAGTGTATGAAT GAGTCGGTTTAGTGTGTGAATGAGTGTGTGAATGAGTAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	118	0.0085	-90	c.51 others(101): Show c.5175_*5264delACCTACTCATTCACACACTCATTCACACACTAAA CCGACTCATTCATACACTAACCCATTCACAAACTCACCCATTCATTTGCA CACTAA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3288		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1061048	AGTCTCAC others(83): Show AGTCTCACCCGCCGCACCCGCCGCACCTGCCGCATCCGCCATGCGGAACC CCTGCGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTGC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG03098.hp1 others(5): Show HG01192.hp2 HG02055.hp1 HG03098.hp1 HG03195.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0014 a0002c0012 a0001c0003 a0001c0014 a0002c0012	a0001c0003t0003 a0001c0014t0003 a0002c0012t0003 others(1): Show a0001c0003t0003 a0001c0014t0003 a0002c0012t0003 a0002c0012t0024	a0001c0003t0003g0002 a0001c0003t0003g0003 a0001c0003t0003g0006 others(5): Show a0001c0003t0003g0002 a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0019 a0001c0014t0003g0093 a0002c0012t0003g0073 a0002c0012t0003g0075 a0002c0012t0024g0074	8	115	0.0696	-90	c.274 others(107): Show c.2740-687_2740-598delGCAGGGGTCCCGCACGGCGGGTGCGGTG GGTGAGACGCAGGGGTTCCGCATGGCGGATGCGGCAGGTGCGGCGGGTGC GGCGGGTGAGAC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar

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