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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
PLCB3_chr11_64246530_64272923	64270902	CACACACA others(66): Show CACACACACACACACACACACACACACACACGCCTGGAGTGGGATCTAGA CTACAGATCCCAGCATGCCCTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02074.hp2 others(6): Show HG01515.hp1 HG01517.hp1 HG02074.hp2 HG03831.hp1 HG04115.hp2 NA18942.hp2 NA18948.hp2 NA18986.hp2 NA19064.hp1	a0001 a0011 a0001 a0011	a0001c0003 a0011c0018 a0001c0003 a0011c0018	a0001c0003t0001 a0011c0018t0001 a0001c0003t0001 a0011c0018t0001	a0001c0003t0001g0002 a0001c0003t0001g0032 a0001c0003t0001g0086 others(2): Show a0001c0003t0001g0002 a0001c0003t0001g0032 a0001c0003t0001g0086 a0001c0003t0001g0088 a0011c0018t0001g0002	9	382	0.0236	-73	c.33 others(84): Show c.3347_*3419delACACACACACACACACACACACACACACACGCCT GGAGTGGGATCTAGACTACAGATCCCAGCATGCCCTGTG		PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding				2980		chr11	TogoVar
PLEKHA4_chr19_48832097_48873617	48834483	GGGGCTGA others(66): Show GGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	300	0.0033	-73	c.27 others(84): Show c.2733_*2805delTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAG GCCCTACTTCCTCAGACCCAGGAGTCCAGACCTCAGCCC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding				2613		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834512	GGAAGTAG others(66): Show GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCT GGGAGCCTGGACTCCTGGGTCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG01243.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0081 a0002c0002t0002g0077 a0002c0002t0002g0081	2	300	0.0067	-73	c.27 others(84): Show c.2704_*2776delTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCT CCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding				2584		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834818	GCTGGGGG others(66): Show GCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGA CTCCTGGGTCCGAGGAAGTAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0187 a0010c0013t0001g0187	1	300	0.0033	-73	c.23 others(84): Show c.2398_*2470delGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTC AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAG		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding				2278		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834852	GGGGCTGA others(66): Show GGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA18998.hp2 HG02135.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0157 a0001c0001t0007g0266 a0001c0001t0001g0157 a0001c0001t0007g0266	2	300	0.0067	-73	c.23 others(84): Show c.2364_*2436delTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAG GCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding				2244		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835001	GGCTGAGG others(66): Show GGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG02145.hp1 others(2): Show HG00741.hp2 HG01256.hp1 HG02145.hp1 NA19074.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0125 a0002c0002t0001g0226 a0002c0002t0002g0024 others(2): Show a0001c0001t0001g0125 a0002c0002t0001g0226 a0002c0002t0002g0024 a0002c0002t0002g0034 a0002c0002t0002g0039	5	300	0.0167	-73	c.22 others(84): Show c.2215_*2287delACCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC AGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding				2095		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835148	GGCTGAGG others(66): Show GGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	300	0.0033	-73	c.20 others(84): Show c.2068_*2140delACCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC AGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding				1948		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48836735	CTCCCAGC others(66): Show CTCCCAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGCCTCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA18947.hp1 NA18998.hp1 others(1): Show HG02258.hp2 NA18947.hp1 NA18998.hp1 NA18998.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0002c0002t0002 a0007c0009t0001 a0001c0001t0001 a0002c0002t0002 a0007c0009t0001	a0001c0001t0001g0157 a0002c0002t0002g0085 a0007c0009t0001g0011 a0001c0001t0001g0157 a0002c0002t0002g0085 a0007c0009t0001g0011	4	300	0.0133	-73	c.48 others(82): Show c.481_*553delCCCTGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA GGCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGA		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding				361		chr19	TogoVar
PLEKHN1_chr1_961482_980865	964625	GGGGCGCG others(66): Show GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGTGCTGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02074.hp1 HG02738.hp2 others(5): Show HG01993.hp1 HG02074.hp1 HG02738.hp2 HG03688.hp1 HG04199.hp1 HG04199.hp2 NA18940.hp1 NA19089.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0119 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0014g0050 a0001c0001t0016g0048 a0002c0002t0001g0012 a0003c0003t0001g0004	8	422	0.0190	-73	c.-19 others(84): Show c.-1906_-1834delGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGG AGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGA		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding				1856		chr1	TogoVar
PPIAL4C_chr1_149578848_149589607	149583467	GAAGAAAG others(66): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02895.hp2 HG00735.hp2 HG02895.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0003 a0003c0003t0002 a0004c0004t0003	a0003c0003t0002g0000 a0004c0004t0003g0000 a0003c0003t0002g0000 a0004c0004t0003g0000	2	448	0.0045	-73	c.-43 others(82): Show c.-430_-358delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGA		PPIAL4C	ENSG00000288867.1	transcript	ENST00000585245.3	protein_coding				380		chr1	TogoVar
PPP1R16B_chr20_38800697_38928024	38895989	TCTTTCTC others(66): Show TCTTTCTCTCCTCCCTTCCCCCCTTCCTTCTTTCTTTCCTCTCTTCCTTC TTTCTTTTCTCCCTTCCTCCCTTC	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	244	0.0041	-73	c.467 others(88): Show c.467+286_467+358delCTCCTCCCTTCCCCCCTTCCTTCTTTCTTT CCTCTCTTCCTTCTTTCTTTTCTCCCTTCCTCCCTTCCTTTCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10				INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP2R3B_chrX_328933_391907	339739	GGGGGGGT others(66): Show GGGGGGGTGAGAGGGGAGGAGCCGGGGGGGGTGAGAGGGGAGGAGCCGGG GGGGGTGAGAAGGGAGGAGCCGGA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0011 a0006c0010t0011	a0006c0010t0011g0002 a0006c0010t0011g0002	1	25	0.0400	-73	c.135 others(90): Show c.1352-916_1352-844delTCCGGCTCCTCCCTTCTCACCCCCCCCG GCTCCTCCCCTCTCACCCCCCCCGGCTCCTCCCCTCTCACCCCCC		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12					chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50397688	AGGGGGGC others(66): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGAGTGTGACTTGGGATGGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02055.hp2 others(8): Show HG01515.hp2 HG01517.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp2 HG03579.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0012 a0001c0002t0023 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0023 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009	a0001c0001t0002g0082 a0001c0001t0012g0254 a0001c0001t0012g0266 others(8): Show a0001c0001t0002g0082 a0001c0001t0012g0254 a0001c0001t0012g0266 a0001c0002t0023g0070 a0001c0003t0002g0081 a0001c0003t0002g0084 a0001c0003t0008g0293 a0001c0003t0008g0300 a0001c0003t0008g0305 a0001c0003t0009g0083 a0001c0003t0009g0085	11	340	0.0324	-73	c.227 others(90): Show c.227+3605_227+3677delAGTGTGACTTGGGATGGGGGCGGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23				INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKN_chr6_161342417_162732766	162431188	AAAGAAAA others(66): Show AAAGAAAAAAATGGACTTGGTTGCCTTGTGGAGAATGGATAGTAGTTGAG CCTTGTGGTGAATGGATAGTAATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02897.hp1 HG02976.hp1 others(1): Show HG01884.hp2 HG02897.hp1 HG02976.hp1 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0003c0005t0002 a0001c0001t0002 a0001c0001t0003 a0003c0005t0002	a0001c0001t0002g0007 a0001c0001t0003g0021 a0001c0001t0003g0022 others(1): Show a0001c0001t0002g0007 a0001c0001t0003g0021 a0001c0001t0003g0022 a0003c0005t0002g0026	4	32	0.1250	-73	c.171 others(92): Show c.171+12049_171+12121delAATTACTATCCATTCACCACAAGGCT CAACTACTATCCATTCTCCACAAGGCAACCAAGTCCATTTTTTTCTT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11					chr6	TogoVar
PRMT1_chr19_49672271_49693447	49691973	GGAGGAGG others(66): Show GGAGGAGGGGCTGGGGCCTGGGCTTCTGGGTCTGAGGGAGGAGGGGCTGG GGGCCTGGACTCCTGGATCTGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(7): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01168.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009	10	398	0.0251	-73	c.37 others(84): Show c.3729_*3801delGAGGAGGGGCTGGGGCCTGGGCTTCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGATCTGAGA		PRMT1	ENSG00000126457.22	transcript	ENST00000454376.7	protein_coding				3527		chr19	TogoVar
PTGES3L_chr17_42963103_42985080	42967322	TATAATAT others(66): Show TATAATATATAAAATATATATTATATAATATATAATATAATATATAAAAT ATATATTATATAATATATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01081.hp1 others(7): Show HG00099.hp1 HG00741.hp2 HG01081.hp1 HG01361.hp1 HG01884.hp2 HG01981.hp2 HG02683.hp1 HG02965.hp1 HG03195.hp1 HG03579.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0030 a0002c0002t0001g0202 a0002c0002t0001g0203 others(6): Show a0002c0002t0001g0030 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0212 a0004c0004t0001g0192 a0004c0004t0001g0195	10	336	0.0298	-73	c.17 others(84): Show c.1753_*1825delTATATTATATATTATATAATATATATTTTATATA TTATATTATATATTATATAATATATATTTTATATATTAT		PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding				780		chr17	TogoVar
PTPRH_chr19_55176247_55214501	55207703	GGTCTGAG others(66): Show GGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGA GAGGTTGGGGGCCTGGACTCCTGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0121 a0002c0028t0001g0121	1	378	0.0027	-73	c.52- others(86): Show c.52-577_52-505delTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCT CAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGAC		PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19					chr19	TogoVar
PTPRT_chr20_42067756_43194906	42674862	CAGCTAAT others(66): Show CAGCTAATTCCACTACAACTCTTGCTTTGAAAACGCAAATTTGTTCCAAC CCAATTAATATATGAAAGGGCAAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 NA19240.hp1 HG02622.hp2 HG02922.hp2 NA19240.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0027 a0005c0028 a0008c0012 a0001c0027 a0005c0028 a0008c0012	a0001c0027t0028 a0005c0028t0027 a0008c0012t0005 a0001c0027t0028 a0005c0028t0027 a0008c0012t0005	a0001c0027t0028g0049 a0005c0028t0027g0042 a0008c0012t0005g0017 a0001c0027t0028g0049 a0005c0028t0027g0042 a0008c0012t0005g0017	3	62	0.0484	-73	c.115 others(92): Show c.1153+2931_1153+3003delATTGCCCTTTCATATATTAATTGGGT TGGAACAAATTTGCGTTTTCAAAGCAAGAGTTGTAGTGGAATTAGCT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30					chr20	TogoVar
PUM1_chr1_30926506_31070717	30972290	AGGGGAGG others(66): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0034 a0001c0005t0010g0034	1	334	0.0030	-73	c.150 others(92): Show c.1506+2288_1506+2360delCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21					chr1	TogoVar
PXDNL_chr8_51314577_51814445	51600565	CGTTTAGA others(66): Show CGTTTAGATAATAAATTATATCTTATATAAATTATATCGTTTAGATAATA AATTATATCTTATATAAATTATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02717.hp2 HG02922.hp2 others(5): Show HG01070.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp2 NA19030.hp2 NA20129.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0024 a0026	a0001c0001 a0003c0005 a0009c0012 others(2): Show a0001c0001 a0003c0005 a0009c0012 a0024c0026 a0026c0043	a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 a0003c0005t0003 a0009c0012t0001 a0024c0026t0003 a0026c0043t0003	a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 others(5): Show a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 a0003c0005t0003g0003 a0003c0005t0003g0006 a0009c0012t0001g0038 a0024c0026t0003g0002 a0026c0043t0003g0005	8	122	0.0656	-73	c.237 others(90): Show c.237-7940_237-7868delATATAATTTATATAAGATATAATTTATT ATCTAAACGATATAATTTATATAAGATATAATTTATTATCTAAAC		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22					chr8	TogoVar
PXDNL_chr8_51314577_51814445	51600608	GATAATAA others(66): Show GATAATAAATTATATCTTATATAAATTATATAGTTAGATAATAAATTATA TCTTATATAAATTATATAATTTAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02735.hp1 NA18959.hp2 others(2): Show HG00438.hp2 HG02735.hp1 NA18959.hp2 NA18966.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0034 a0002c0002t0002g0104 a0002c0002t0002g0109 others(2): Show a0001c0001t0001g0034 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117	5	122	0.0410	-73	c.237 others(90): Show c.237-7983_237-7911delATAAATTATATAATTTATATAAGATATA ATTTATTATCTAACTATATAATTTATATAAGATATAATTTATTAT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22					chr8	TogoVar
PXDNL_chr8_51314577_51814445	51600620	TATCTTAT others(66): Show TATCTTATATAAATTATATAGTTAGATAATAAATTATATCTTATATAAAT TATATAATTTATATGATAAATTAC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0003 a0009c0012t0003	a0009c0012t0003g0012 a0009c0012t0003g0012	1	122	0.0082	-73	c.237 others(90): Show c.237-7995_237-7923delGTAATTTATCATATAAATTATATAATTT ATATAAGATATAATTTATTATCTAACTATATAATTTATATAAGAT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22					chr8	TogoVar
RASA3_chr13_113972783_114137623	114006156	CCCTGCTG others(66): Show CCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCC ACCTTACCCTTCTCCCCACTCCTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	67	0.0149	-73	c.174 others(92): Show c.1742+1304_1742+1376delCAGGAGTGGGGAGAAGGGTAAGGTGG CGTCCGGCAGGGCAGGAGGGGAGAAGGGTAAGGTGGTGTCCAGCAGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23					chr13	TogoVar
RBFA_chr18_80029434_80055651	80051340	GTCCACAA others(66): Show GTCCACAATGATGAGCTGAAGAAAGGGGTGTCTGTTGGGCTTCTCCCTGT GAACTTACTCTTAAGTATTTACTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0055 a0002c0001t0055	a0002c0001t0055g0046 a0002c0001t0055g0046	1	414	0.0024	-73	c.51 others(84): Show c.5186_*5258delTCCACAATGATGAGCTGAAGAAAGGGGTGTCTGT TGGGCTTCTCCCTGTGAACTTACTCTTAAGTATTTACTT		RBFA	ENSG00000101546.13	transcript	ENST00000306735.10	protein_coding				690		chr18	TogoVar
RBP1_chr3_139512438_139544742	139539408	GCGGCCCG others(66): Show GCGGCCCGGAGCTGCTCGGCGGGGCGCCCAGGGCGCAGCGGGCAGCGCTT ACCGAGGGCGCGCAGGTACTCCTC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0047 a0004c0005t0001g0047	1	356	0.0028	-73	c.238 others(83): Show c.238_259+51delGAGGAGTACCTGCGCGCCCTCGGTAAGCGCTGCCC GCTGCGCCCTGGGCGCCCCGCCGAGCAGCTCCGGGCCG	p.Glu others(4): Show p.Glu80fs	RBP1	ENSG00000114115.11	transcript	ENST00000672186.1	protein_coding	1/4	238/594	80/197			chr3	TogoVar
RGPD2_chr2_87750960_87830796	87825508	CCGAGGCC others(66): Show CCGAGGCCGCCGCCCGGCCGAGGCCGAGGCCGAGGCCGCCGCCCGGCCAG GTCGAGGCCGCCGCCCGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG02965.hp1 others(2): Show HG01891.hp2 HG02622.hp2 HG02965.hp1 NA18522.hp2 NA20752.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0011 a0001c0001 a0002c0003 a0007c0011	a0001c0001t0001 a0001c0001t0015 a0002c0003t0017 others(1): Show a0001c0001t0001 a0001c0001t0015 a0002c0003t0017 a0007c0011t0009	a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0015g0171 others(2): Show a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0015g0171 a0002c0003t0017g0172 a0007c0011t0009g0169	5	176	0.0284	-73	c.72+ others(85): Show c.72+77_72+149delACCTGGCCGGGCGGCGGCCTCGACCTGGCCGGG CGGCGGCCTCGGCCTCGGCCTCGGCCGGGCGGCGGCCTCG		RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22					chr2	TogoVar
RIMS4_chr20_44746808_44815546	44783410	GTCGGGAG others(66): Show GTCGGGAGTTTGAGATCACCCTGACCAATATGGTGAAACACTGTCTCTAC TAAAAATACAAAAATTAGCTGGGC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	382	0.0026	-73	c.98- others(90): Show c.98-12070_98-11998delGCCCAGCTAATTTTTGTATTTTTAGTAG AGACAGTGTTTCACCATATTGGTCAGGGTGATCTCAAACTCCCGA		RIMS4	ENSG00000101098.13	transcript	ENST00000372851.8	protein_coding	1/5					chr20	TogoVar
RNASET2_chr6_166917113_166961550	166955247	ACGCACAC others(66): Show ACGCACACACGCACACACACACACGCGCACACACGACACACACGCACAGA CGCGCACACACGACACACACGCAC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0203 a0001c0002t0036g0203	1	346	0.0029	-73	c.86+ others(86): Show c.86+777_86+849delGTGCGTGTGTGTCGTGTGTGCGCGTCTGTGCG TGTGTGTCGTGTGTGCGCGTGTGTGTGTGTGCGTGTGTGCG		RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8					chr6	TogoVar
RNASET2_chr6_166917113_166961550	166955299	CGCACACA others(66): Show CGCACACACGACACACACGCACACACACGCACGCACGCACACGCACACGC ACGCACACACACACGCACACACAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18949.hp1 NA18522.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0054 a0001c0003t0034 a0001c0001t0054 a0001c0003t0034	a0001c0001t0054g0059 a0001c0003t0034g0058 a0001c0001t0054g0059 a0001c0003t0034g0058	2	346	0.0058	-73	c.86+ others(86): Show c.86+725_86+797delTTGTGTGTGCGTGTGTGTGTGCGTGCGTGTGC GTGTGCGTGCGTGCGTGTGTGTGCGTGTGTGTCGTGTGTGC		RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8					chr6	TogoVar
RNF166_chr16_88691501_88711408	88697477	CGGTGAGG others(66): Show CGGTGAGGTGCGCTCCCGAGCAGGTGCCAGGTGCGACACAGGAGCGGGGA CATCCCTGACCCCAGACGCAGGCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02293.hp1 HG02602.hp2 HG02293.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0212 a0001c0001t0029g0244 a0001c0001t0029g0212 a0001c0001t0029g0244	2	440	0.0046	-73	c.18 others(80): Show c.18_*90delCGCCTGCGTCTGGGGTCAGGGATGTCCCCGCTCCTGTG TCGCACCTGGCACCTGCTCGGGAGCGCACCTCACC		RNF166	ENSG00000158717.11	transcript	ENST00000312838.9	protein_coding	6/6			18		chr16	TogoVar
RNF213_chr17_80255852_80403794	80257656	GCACAGTT others(66): Show GCACAGTTAGTGGAGGCATCCTCAGCAGAAGGCCCGTCAGAACCACAGAA ACAAGACCAGGTGCCGGGTGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(79): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18986.hp2 NA19004.hp2 NA19010.hp1 NA19043.hp1 NA19062.hp2 NA19066.hp1 NA19082.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(32): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0020 a0021 a0022 a0023 a0026 a0027 a0030 a0035 a0036 a0038 a0058 a0063 a0069 a0072 a0073 a0074 a0084 a0090 a0091 a0094 a0095	a0001c0001 a0001c0003 a0001c0004 others(44): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0029 a0001c0053 a0001c0075 a0001c0076 a0001c0094 a0002c0002 a0002c0027 a0002c0035 a0002c0060 a0002c0061 a0004c0009 a0005c0007 a0006c0045 a0007c0008 a0009c0016 a0010c0017 a0012c0015 a0013c0012 a0014c0020 a0015c0018 a0016c0014 a0018c0033 a0020c0031 a0021c0032 a0022c0090 a0023c0088 a0026c0080 a0027c0025 a0030c0110 a0035c0139 a0036c0144 a0038c0146 a0058c0130 a0063c0052 a0069c0065 a0072c0067 a0073c0069 a0074c0068 a0084c0051 a0090c0114 a0091c0113 a0094c0041 a0095c0040	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0034 a0001c0004t0004 a0001c0004t0007 a0001c0004t0071 a0001c0006t0010 a0001c0029t0007 a0001c0029t0011 a0001c0053t0029 a0001c0075t0015 a0001c0076t0011 a0001c0094t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0021 a0002c0002t0032 a0002c0027t0007 a0002c0035t0004 a0002c0060t0005 a0002c0061t0004 a0004c0009t0019 a0005c0007t0003 a0005c0007t0004 a0006c0045t0011 a0007c0008t0003 a0007c0008t0046 a0009c0016t0009 a0010c0017t0006 a0010c0017t0012 a0012c0015t0015 a0012c0015t0033 a0013c0012t0053 a0013c0012t0056 a0014c0020t0014 a0015c0018t0022 a0015c0018t0062 a0016c0014t0017 a0016c0014t0041 a0018c0033t0016 a0020c0031t0012 a0021c0032t0036 a0022c0090t0008 a0023c0088t0013 a0026c0080t0077 a0027c0025t0013 a0030c0110t0076 a0035c0139t0001 a0036c0144t0003 a0038c0146t0048 a0058c0130t0031 a0063c0052t0073 a0069c0065t0025 a0072c0067t0008 a0073c0069t0019 a0074c0068t0019 a0084c0051t0013 a0090c0114t0066 a0091c0113t0021 a0094c0041t0061 a0095c0040t0003	a0001c0001t0001g0003 a0001c0001t0001g0126 a0001c0001t0001g0226 others(78): Show a0001c0001t0001g0003 a0001c0001t0001g0126 a0001c0001t0001g0226 a0001c0001t0001g0264 a0001c0001t0002g0115 a0001c0001t0002g0139 a0001c0001t0002g0227 a0001c0003t0001g0095 a0001c0003t0002g0072 a0001c0003t0002g0109 a0001c0003t0034g0004 a0001c0004t0004g0074 a0001c0004t0007g0268 a0001c0004t0071g0066 a0001c0006t0010g0144 a0001c0029t0007g0039 a0001c0029t0011g0041 a0001c0053t0029g0205 a0001c0075t0015g0099 a0001c0076t0011g0216 a0001c0094t0001g0162 a0002c0002t0004g0117 a0002c0002t0004g0129 a0002c0002t0004g0145 a0002c0002t0005g0073 a0002c0002t0005g0214 a0002c0002t0009g0042 a0002c0002t0009g0105 a0002c0002t0009g0215 a0002c0002t0010g0050 a0002c0002t0010g0154 a0002c0002t0021g0114 a0002c0002t0032g0001 a0002c0027t0007g0064 a0002c0035t0004g0094 a0002c0060t0005g0065 a0002c0061t0004g0190 a0004c0009t0019g0272 a0005c0007t0003g0209 a0005c0007t0004g0207 a0006c0045t0011g0202 a0007c0008t0003g0199 a0007c0008t0046g0232 a0009c0016t0009g0103 a0010c0017t0006g0089 a0010c0017t0006g0090 a0010c0017t0012g0097 a0012c0015t0015g0200 a0012c0015t0015g0201 a0012c0015t0033g0188 a0013c0012t0053g0228 a0013c0012t0056g0192 a0014c0020t0014g0257 a0015c0018t0022g0025 a0015c0018t0062g0024 a0016c0014t0017g0220 a0016c0014t0017g0221 a0016c0014t0041g0222 a0018c0033t0016g0275 a0020c0031t0012g0019 a0020c0031t0012g0026 a0021c0032t0036g0021 a0022c0090t0008g0092 a0023c0088t0013g0165 a0026c0080t0077g0290 a0027c0025t0013g0260 a0030c0110t0076g0171 a0035c0139t0001g0284 a0036c0144t0003g0173 a0038c0146t0048g0172 a0058c0130t0031g0012 a0063c0052t0073g0242 a0069c0065t0025g0029 a0072c0067t0008g0206 a0073c0069t0019g0151 a0074c0068t0019g0252 a0084c0051t0013g0110 a0090c0114t0066g0258 a0091c0113t0021g0031 a0094c0041t0061g0233 a0095c0040t0003g0196	82	292	0.2808	-73	c.-33 others(84): Show c.-3354_-3282delCACAGTTAGTGGAGGCATCCTCAGCAGAAGGCCC GTCAGAACCACAGAAACAAGACCAGGTGCCGGGTGGGCA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding				3195		chr17	TogoVar
RPTOR_chr17_80539838_80971368	80590522	TGTGTGTT others(66): Show TGTGTGTTAGCATGGTGAAGGAGGCATGCAGGTATGCGCACATGCGTGCA CACAGTGTCTTTAATGGTTGGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(53): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp2 HG02055.hp2 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 NA18906.hp1 NA18944.hp1 NA18963.hp1 NA18980.hp1 NA19009.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(40): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0030 a0001c0031 a0001c0033 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0047 a0001c0048 a0001c0049 a0001c0051 a0001c0052 a0001c0055 a0001c0070 a0001c0076 a0001c0078 a0001c0079 a0001c0080 a0002c0063 a0003c0069 a0005c0092	a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 others(51): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0003t0004 a0001c0003t0014 a0001c0003t0038 a0001c0004t0014 a0001c0004t0023 a0001c0004t0035 a0001c0006t0022 a0001c0006t0063 a0001c0008t0021 a0001c0008t0027 a0001c0008t0036 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0013t0021 a0001c0015t0046 a0001c0017t0015 a0001c0018t0016 a0001c0019t0042 a0001c0020t0048 a0001c0022t0022 a0001c0024t0037 a0001c0025t0051 a0001c0025t0052 a0001c0026t0043 a0001c0027t0016 a0001c0030t0003 a0001c0031t0011 a0001c0033t0023 a0001c0038t0007 a0001c0039t0061 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0044t0045 a0001c0047t0012 a0001c0048t0073 a0001c0049t0011 a0001c0051t0060 a0001c0052t0003 a0001c0055t0049 a0001c0070t0020 a0001c0076t0011 a0001c0078t0041 a0001c0079t0050 a0001c0080t0011 a0002c0063t0020 a0003c0069t0044 a0005c0092t0012	a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 others(53): Show a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0004g0119 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0004t0035g0004 a0001c0006t0022g0090 a0001c0006t0063g0160 a0001c0008t0021g0091 a0001c0008t0027g0143 a0001c0008t0036g0002 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0047g0076 a0001c0013t0021g0093 a0001c0015t0046g0079 a0001c0017t0015g0082 a0001c0018t0016g0120 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0022t0022g0095 a0001c0024t0037g0092 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0026t0043g0096 a0001c0027t0016g0185 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0031t0011g0073 a0001c0033t0023g0075 a0001c0038t0007g0178 a0001c0039t0061g0177 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0044t0045g0080 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0049t0011g0078 a0001c0051t0060g0116 a0001c0052t0003g0149 a0001c0055t0049g0083 a0001c0070t0020g0003 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0079t0050g0097 a0001c0080t0011g0077 a0002c0063t0020g0001 a0003c0069t0044g0099 a0005c0092t0012g0163	56	196	0.2857	-73	c.163 others(92): Show c.163-35097_163-35025delCCGTGTGTTAGCATGGTGAAGGAGGC ATGCAGGTATGCGCACATGCGTGCACACAGTGTCTTTAATGGTTGGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80708556	CCATCCTC others(66): Show CCATCCTCCAGGGTGTGGTGGGTGCTGACTGTTGTCCCCACCCTCCAGGG TGTGGTGGGTGCTGACTGTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp1 others(37): Show HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0001c0005 a0001c0006 others(29): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0016 a0001c0020 a0001c0021 a0001c0025 a0001c0028 a0001c0029 a0001c0038 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0001c0047 a0001c0048 a0001c0056 a0001c0057 a0001c0059 a0001c0064 a0001c0068 a0001c0070 a0001c0079 a0001c0088 a0001c0089 a0002c0063 a0005c0092	a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 others(35): Show a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0006t0063 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0007t0084 a0001c0008t0081 a0001c0009t0006 a0001c0011t0029 a0001c0016t0031 a0001c0020t0093 a0001c0021t0065 a0001c0025t0051 a0001c0025t0052 a0001c0028t0006 a0001c0029t0085 a0001c0038t0007 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0045t0091 a0001c0047t0012 a0001c0048t0073 a0001c0056t0001 a0001c0057t0077 a0001c0059t0080 a0001c0064t0006 a0001c0068t0025 a0001c0070t0020 a0001c0079t0050 a0001c0088t0007 a0001c0089t0006 a0002c0063t0020 a0005c0092t0012	a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 others(37): Show a0001c0004t0035g0004 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0006t0063g0160 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0084g0007 a0001c0008t0081g0019 a0001c0009t0006g0142 a0001c0011t0029g0196 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0020t0093g0034 a0001c0021t0065g0112 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0028t0006g0124 a0001c0029t0085g0012 a0001c0038t0007g0178 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0045t0091g0036 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0056t0001g0107 a0001c0057t0077g0016 a0001c0059t0080g0006 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0070t0020g0003 a0001c0079t0050g0097 a0001c0088t0007g0141 a0001c0089t0006g0159 a0002c0063t0020g0001 a0005c0092t0012g0163	40	196	0.2041	-73	c.507 others(88): Show c.507+630_507+702delTCATCCTCCAGGGTGTGGTGGGTGCTGACT GTTGTCCCCACCCTCCAGGGTGTGGTGGGTGCTGACTGTCTCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477151	CCCCACAG others(66): Show CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG04228.hp1 HG02818.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0001 a0001c0004t0001 a0002c0003t0001	a0001c0004t0001g0308 a0002c0003t0001g0153 a0001c0004t0001g0308 a0002c0003t0001g0153	2	408	0.0049	-73	c.727 others(87): Show c.727+67_727+139delACAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGG		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8					chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477166	ATGCCCCA others(66): Show ATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCAC ACCCTCTGTCCCACAGCCCGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02615.hp2 HG02630.hp2 HG01168.hp1 HG02615.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0001 a0001c0001t0001 a0001c0017t0001	a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0017t0001g0354 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0017t0001g0354	3	408	0.0074	-73	c.727 others(87): Show c.727+52_727+124delCCCCCGGGCTGTGGGACAGAGGGTGTGGGGC ATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCA		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8					chr21	TogoVar
SBNO1_chr12_123284109_123369847	123297329	CAAAAAAA others(66): Show CAAAAAAAAAAAAAAAAAAAAAAATTCATTAATTCAAATGAAAACCTACA ACATCCCAAAATACTGGTGTCCAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02976.hp1 NA19003.hp2 HG01069.hp1 HG02976.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0085 a0001c0002t0003 a0001c0002t0085	a0001c0002t0003g0238 a0001c0002t0003g0258 a0001c0002t0085g0209 a0001c0002t0003g0238 a0001c0002t0003g0258 a0001c0002t0085g0209	3	260	0.0115	-73	c.403 others(90): Show c.4039+576_4039+648delTTGGACACCAGTATTTTGGGATGTTGTA GGTTTTCATTTGAATTAATGAATTTTTTTTTTTTTTTTTTTTTTT		SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31					chr12	TogoVar
SCUBE1_chr22_43192280_43348372	43280444	CCTGTCCC others(66): Show CCTGTCCCTTCCCCTCACCCATCCTCCCGTCCCTTCCCCTCACCCATCCC CGTCCCTTCCCCTCACCCATCCTG	C C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0102 a0003c0007t0001g0102	1	280	0.0036	-73	c.484 others(92): Show c.484+10529_484+10601delCAGGATGGGTGAGGGGAAGGGACGGG GATGGGTGAGGGGAAGGGACGGGAGGATGGGTGAGGGGAAGGGACAG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21					chr22	TogoVar
SENP1_chr12_48037897_48111079	48056851	ATATTATT others(66): Show ATATTATTTAATATATTACATATTACATATATAATATATTATTTAATATA TTACATATTACATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19010.hp1 NA18963.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	2	394	0.0051	-73	c.140 others(92): Show c.1407+6786_1407+6858delATATATTATATATGTAATATGTAATA TATTAAATAATATATTATATATGTAATATGTAATATATTAAATAATA		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17					chr12	TogoVar
SERPINB7_chr18_63770418_63810370	63785912	CACATATA others(66): Show CACATATATAATATACGTATATATACACATATATAATATACTTATATATA CACATATATAATATACGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 HG03540.hp2 others(2): Show HG01884.hp2 HG02818.hp2 HG03540.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0101 a0001c0001t0007g0097 a0001c0001t0007g0099 others(2): Show a0001c0001t0002g0101 a0001c0001t0007g0097 a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0102	5	432	0.0116	-73	c.168 others(90): Show c.168+3376_168+3448delTATATAATATACGTATATATACACATAT ATAATATACTTATATATACACATATATAATATACGTATATATACA		SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7				INFO_REALIGN_3_PRIME	chr18	TogoVar
SET_chr9_128684222_128701396	128685862	TCTCTACC others(66): Show TCTCTACCAAAGACAGTTAGCCAGGCGTGACGATGCATGCCTGTAATCCC AGCTACTTGGGGGGCTAAGGCAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0047 a0001c0001t0012g0047	1	396	0.0025	-73	c.-37 others(84): Show c.-3720_-3648delCTCTACCAAAGACAGTTAGCCAGGCGTGACGATG CATGCCTGTAATCCCAGCTACTTGGGGGGCTAAGGCAGG		SET	ENSG00000119335.18	transcript	ENST00000322030.13	protein_coding				3359		chr9	TogoVar
SF3A1_chr22_30326988_30361894	30352055	GTGGAACT others(66): Show GTGGAACTGTGGGGAGAGACAGGAGGAACCCGGAGCAATTCCCATTCCAT CTGAGGTGGCGGCTAGCACCTGCA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	402	0.0025	-73	c.185 others(88): Show c.185+823_185+895delTGCAGGTGCTAGCCGCCACCTCAGATGGAA TGGGAATTGCTCCGGGTTCCTCCTGTCTCTCCCCACAGTTCCA		SF3A1	ENSG00000099995.19	transcript	ENST00000215793.13	protein_coding	2/15					chr22	TogoVar
SH3PXD2B_chr5_172328499_172459525	172345120	AGGAGGGA others(66): Show AGGAGGGAAGGAAGGAATGAAGGCGTGCAGGCAGGCAGGCTATAGTCCTT CCTGGAATATAGCCAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02109.hp2 HG01192.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0246 a0001c0001t0004g0241 a0001c0001t0004g0246	2	280	0.0071	-73	c.118 others(91): Show c.1188+943_1188+1015delCTTCCTTCCTGGCTATATTCCAGGAAG GACTATAGCCTGCCTGCCTGCACGCCTTCATTCCTTCCTTCCCTCC		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	12/12					chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070916	GAGCCCCC others(66): Show GAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGTATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	118	0.0085	-73	c.224 others(92): Show c.2241+2644_2241+2716delGCATAAGTGTGATACCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATACCCGTGTGCTGGGGGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23					chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071584	GAGCCCCC others(66): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	118	0.0085	-73	c.224 others(92): Show c.2241+1976_2241+2048delGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23					chr5	TogoVar
SLC26A11_chr17_80215427_80258500	80257656	GCACAGTT others(66): Show GCACAGTTAGTGGAGGCATCCTCAGCAGAAGGCCCGTCAGAACCACAGAA ACAAGACCAGGTGCCGGGTGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(94): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01167.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18974.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19056.hp2 NA19058.hp1 NA19066.hp1 NA19067.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0016 a0018	a0001c0001 a0001c0013 a0001c0016 others(4): Show a0001c0001 a0001c0013 a0001c0016 a0003c0006 a0004c0007 a0016c0019 a0018c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0013t0002 a0001c0016t0001 a0003c0006t0006 a0004c0007t0003 a0016c0019t0001 a0018c0025t0009	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(81): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0002g0001 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0069 a0001c0001t0002g0107 a0001c0001t0002g0116 a0001c0001t0003g0130 a0001c0001t0003g0270 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0299 a0001c0001t0003g0302 a0001c0001t0004g0019 a0001c0001t0005g0282 a0001c0001t0006g0163 a0001c0001t0009g0033 a0001c0001t0013g0081 a0001c0001t0013g0086 a0001c0001t0014g0237 a0001c0001t0014g0238 a0001c0001t0020g0219 a0001c0013t0002g0109 a0001c0016t0001g0182 a0003c0006t0006g0285 a0004c0007t0003g0012 a0004c0007t0003g0272 a0016c0019t0001g0155 a0018c0025t0009g0257	97	366	0.2650	-73	c.49 others(84): Show c.4941_*5013delCACAGTTAGTGGAGGCATCCTCAGCAGAAGGCCC GTCAGAACCACAGAAACAAGACCAGGTGCCGGGTGGGCA		SLC26A11	ENSG00000181045.15	transcript	ENST00000361193.8	protein_coding				4157		chr17	TogoVar
SMIM10L1_chr12_11166194_11181016	11168281	AAAGAAAG others(66): Show AAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGGAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	397	0.0025	-73	c.-30 others(84): Show c.-3075_-3003delAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGG		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding				2912		chr12	TogoVar
SMOC2_chr6_168436184_168672992	168611199	TGTGGCTC others(66): Show TGTGGCTCCCGTGTCGGGCCTGGCTGTGGCTCCCATGTCTGGCCCTGCTC TGGTTCCCATGTCCGGGACCCACC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00597.hp1 others(98): Show HG00280.hp2 HG00423.hp2 HG00597.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01167.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18960.hp2 NA18963.hp2 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19012.hp1 NA19030.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0002c0012 a0004c0009 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0007t0005 a0001c0011t0006 a0002c0012t0010 a0004c0009t0003 a0005c0010t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(98): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0171 a0001c0001t0004g0118 a0001c0001t0004g0129 a0001c0001t0006g0128 a0001c0001t0006g0160 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0007g0016 a0001c0002t0007g0053 a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0014g0005 a0001c0007t0005g0050 a0001c0011t0006g0167 a0002c0012t0010g0076 a0004c0009t0003g0088 a0005c0010t0001g0130	101	180	0.5611	-73	c.907 others(90): Show c.907+3057_907+3129delTGTGGCTCCCATGTCTGGCCCTGCTCTG GTTCCCATGTCCGGGACCCACCGTGGCTCCCGTGTCGGGCCTGGC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12				INFO_REALIGN_3_PRIME	chr6	TogoVar
SNAP29_chr22_20854007_20896214	20860846	GAGACCAG others(66): Show GAGACCAGCAGGGGTAACTGCGTCTCTACAAAATTTGAAAAATTAGCCAG GCATGGTGGCACACACATGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03195.hp2 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0090 a0001c0001t0067 a0001c0001t0090	a0001c0001t0067g0025 a0001c0001t0090g0269 a0001c0001t0067g0025 a0001c0001t0090g0269	2	382	0.0052	-73	c.237 others(90): Show c.237+1500_237+1572delAGACCAGCAGGGGTAACTGCGTCTCTAC AAAATTTGAAAAATTAGCCAGGCATGGTGGCACACACATGTGAGT		SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	1/4					chr22	TogoVar
SNTG2_chr2_945849_1372613	1056542	AGGGAGGG others(66): Show AGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGGGAG AGCACGGCGCCCCGCTGTGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA20752.hp2 NA21309.hp1 HG00323.hp2 NA20752.hp2 NA21309.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0009 a0002c0003 a0006c0009	a0002c0003t0001 a0006c0009t0001 a0002c0003t0001 a0006c0009t0001	a0002c0003t0001g0051 a0002c0003t0001g0098 a0006c0009t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0098 a0006c0009t0001g0050	3	190	0.0158	-73	c.73- others(90): Show c.73-26973_73-26901delGAGGGAGGGAGAGCGCAGCGCCACGCTG TGGGGAGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTGGGGAGGG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16				INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056840	CGCTGTGG others(66): Show CGCTGTGGGGAGGGAGAGAGGGAGAGCACGGCGCCCCGCTGTGCTGTGGG GAGGGAGGGAGAGCGTCGCGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02647.hp1 others(4): Show HG02109.hp1 HG02280.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp1	a0007 a0009 a0011 others(2): Show a0007 a0009 a0011 a0014 a0015	a0007c0017 a0009c0013 a0011c0018 others(2): Show a0007c0017 a0009c0013 a0011c0018 a0014c0035 a0015c0036	a0007c0017t0001 a0009c0013t0001 a0011c0018t0001 others(2): Show a0007c0017t0001 a0009c0013t0001 a0011c0018t0001 a0014c0035t0001 a0015c0036t0001	a0007c0017t0001g0105 a0007c0017t0001g0118 a0009c0013t0001g0132 others(4): Show a0007c0017t0001g0105 a0007c0017t0001g0118 a0009c0013t0001g0132 a0011c0018t0001g0045 a0011c0018t0001g0046 a0014c0035t0001g0071 a0015c0036t0001g0070	7	190	0.0368	-73	c.73- others(90): Show c.73-26662_73-26590delAGAGGGAGAGCACGGCGCCCCGCTGTGC TGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGAGGGAG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16				INFO_REALIGN_3_PRIME	chr2	TogoVar

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