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
RBM33_chr7_155639661_155786480	155673588	ATATATAC others(53): Show ATATATACACACATATACATACACACGTGTATATATATACACACATATAC ATACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 NA18995.hp2 HG02257.hp1 HG02818.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0017 a0002c0001 a0001c0004 a0001c0017 a0002c0001	a0001c0004t0005 a0001c0017t0055 a0002c0001t0001 a0001c0004t0005 a0001c0017t0055 a0002c0001t0001	a0001c0004t0005g0131 a0001c0017t0055g0142 a0002c0001t0001g0012 a0001c0004t0005g0131 a0001c0017t0055g0142 a0002c0001t0001g0012	3	306	0.0098	-60	c.171 others(75): Show c.171+680_171+739delCACACATATACATACACACGTGTATATATA TACACACATATACATACACACGTGTATATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBMS3_chr3_29276071_30015386	29975006	TTATTTTA others(53): Show TTATTTTATATATAAAATACGTTTCTATATTTATATATTTTATATATAAA ATATGTTTCTA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0115 a0001c0001t0032g0115	1	116	0.0086	-60	c.109 others(81): Show c.1099-13133_1099-13074delTTTATATATAAAATACGTTTCTAT ATTTATATATTTTATATATAAAATATGTTTCTATAT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759539	ATACATAT others(53): Show ATACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATACAT ACATATGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03540.hp2 HG03041.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	2	452	0.0044	-60	c.-24 others(71): Show c.-2414_-2355delCATACATATGTATGTATACACATACATACATATG TATGTATACACATACATACATATGTA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2130		chr3	TogoVar
REV3L_chr6_111294033_111488218	111422577	CACATATA others(53): Show CACATATATATATATATACACATATATATATATATACACATATATATATA TATACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp2 others(14): Show HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG02145.hp1 HG02486.hp2 HG03239.hp1 HG03654.hp2 HG03710.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0005 a0003c0008 a0003c0005 a0003c0008	a0003c0005t0004 a0003c0008t0004 a0003c0005t0004 a0003c0008t0004	a0003c0005t0004g0267 a0003c0005t0004g0268 a0003c0005t0004g0269 others(13): Show a0003c0005t0004g0267 a0003c0005t0004g0268 a0003c0005t0004g0269 a0003c0005t0004g0271 a0003c0005t0004g0275 a0003c0005t0004g0276 a0003c0005t0004g0278 a0003c0005t0004g0280 a0003c0005t0004g0283 a0003c0008t0004g0001 a0003c0008t0004g0270 a0003c0008t0004g0272 a0003c0008t0004g0273 a0003c0008t0004g0274 a0003c0008t0004g0277 a0003c0008t0004g0281	17	288	0.0590	-60	c.140 others(77): Show c.140-6165_140-6106delATATGTGTATATATATATATATGTGTAT ATATATATATATGTGTATATATATATATATGT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111422620	ATATATAT others(53): Show ATATATATATACACATATATATATATATACATATATATATATACATATAT ATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0284 a0015c0021t0001g0284	1	288	0.0035	-60	c.140 others(77): Show c.140-6208_140-6149delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTGTATATATATA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFTN1_chr3_16310845_16518699	16403863	TTATATTA others(53): Show TTATATTATATTTATATATATATATAATATATATTTTATATATATTATAT TTTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG04184.hp2 HG01261.hp1 HG04184.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0015 a0003c0004t0001g0030 a0003c0004t0001g0015 a0003c0004t0001g0030	2	268	0.0075	-60	c.441 others(77): Show c.441+5452_441+5511delTTATATATAAAATATAATATATATAAAA TATATATTATATATATATATAAATATAATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGN_chrX_47073443_47098313	47074216	AAAGAAAG others(53): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGA AGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	304	0.0033	-60	c.-51 others(71): Show c.-5128_-5069delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGGAAGGAAGGAAGGAAGG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4226		chrX	TogoVar
RGN_chrX_47073443_47098313	47074220	AAAGAAAG others(53): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGA AGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01168.hp1 HG01169.hp1 others(18): Show HG00544.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01361.hp1 HG02071.hp1 HG04115.hp1 NA18943.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18968.hp2 NA18993.hp1 NA19006.hp1 NA19056.hp1 NA19074.hp2 NA19076.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0001 a0001c0001t0002 a0001c0001t0024	a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0002g0054 others(18): Show a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0024g0079	21	304	0.0691	-60	c.-51 others(71): Show c.-5124_-5065delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGGAAGGAAGGAAGGAAGG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4222		chrX	TogoVar
RGN_chrX_47073443_47098313	47074224	AAAGAAAG others(53): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGA AGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03654.hp1 HG03225.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0107 a0001c0001t0001g0041 a0001c0001t0001g0107	2	304	0.0066	-60	c.-51 others(71): Show c.-5120_-5061delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAGGAAGGAAGG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4218		chrX	TogoVar
RGS13_chr1_192631147_192665311	192641198	AAAAAGGA others(53): Show AAAAAGGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp2 HG00438.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	2	420	0.0048	-60	c.-5+ others(75): Show c.-5+2999_-5+3058delAGGAAAGAAAGAAAGAAAGAGAGAAAGAAA GAAAGAAAGAAAGAAAAGAAAGAAAAGAAA	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS20_chr8_53846795_53964303	53948674	ATATAAGA others(53): Show ATATAAGATACAGTACATATTTACATATGCTATATAAGATACAGTACATA TTTACATATGC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG06807.hp2 NA19043.hp2 HG03540.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013	3	258	0.0116	-60	c.743 others(77): Show c.743+1931_743+1990delAGATACAGTACATATTTACATATGCTAT ATAAGATACAGTACATATTTACATATGCTATA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHOQ_chr2_46537490_46589688	46546459	TATATATA others(53): Show TATATATATATATATGTGTATATATATATATATATATATATATATATATA TATGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	332	0.0030	-60	c.201 others(77): Show c.201+2661_201+2720delTGTGTATATATATATATATATATATATA TATATATATATGTATATACATATATATATATA	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RILPL1_chr12_123465054_123538719	123521639	GTGTATAT others(53): Show GTGTATATATATACACATATATGTATATATATAAATATATATATATACAC ACATATATGTA	G G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0136 a0001c0002t0018g0136	1	210	0.0048	-60	c.460 others(77): Show c.460+1796_460+1855delTACATATATGTGTGTATATATATATATT TATATATATACATATATGTGTATATATATACA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646039	TTCCCTCT others(53): Show TTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTT CCCTCTCCACC	T T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	180	0.0056	-60	c.-35 others(81): Show c.-351-17643_-351-17584delGGTGGAGAGGGAAGTGGTGAGGGA GGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646089	CCCTCTCC others(53): Show CCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCC CTCACCACCTG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0118 a0001c0020t0001g0118	1	180	0.0056	-60	c.-35 others(81): Show c.-351-17693_-351-17634delCAGGTGGTGAGGGAGGTGGAGAGG CAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646142	ACCACCTG others(53): Show ACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0024 a0001c0049 a0001c0024 a0001c0049	a0001c0024t0001 a0001c0049t0001 a0001c0024t0001 a0001c0049t0001	a0001c0024t0001g0170 a0001c0049t0001g0169 a0001c0024t0001g0170 a0001c0049t0001g0169	2	180	0.0111	-60	c.-35 others(81): Show c.-351-17746_-351-17687delAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGGTGAGGGAGGTGGAGAGGCAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646293	GCCTCTCC others(53): Show GCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCC CTCACCACCTC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	180	0.0056	-60	c.-35 others(81): Show c.-351-17897_-351-17838delGAGGTGGTGAGGGAGGTGGTGAGG CAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646382	ACCACCTC others(53): Show ACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTC CACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	180	0.0056	-60	c.-35 others(81): Show c.-351-17986_-351-17927delCAAGGGAGGTGGAGAGGGAAGTGG TGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNASET2_chr6_166917113_166961550	166955249	GCACACAC others(53): Show GCACACACGCACACACACACACGCGCACACACGACACACACGCACAGACG CGCACACACGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18964.hp2 HG01891.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0066 a0001c0001t0001 a0001c0001t0066	a0001c0001t0001g0045 a0001c0001t0066g0026 a0001c0001t0001g0045 a0001c0001t0066g0026	2	346	0.0058	-60	c.86+ others(73): Show c.86+788_86+847delTCGTGTGTGCGCGTCTGTGCGTGTGTGTCGTG TGTGCGCGTGTGTGTGTGTGCGTGTGTG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNF150_chr4_140854807_141138469	140999942	AAAGAAGA others(53): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAAAGAAG AAAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	184	0.0054	-60	c.485 others(79): Show c.485-32129_485-32070delCTTCTTCTTTTCTTCTTTTCTTCTTT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF213_chr17_80255852_80403794	80260514	CCGGCGGC others(53): Show CCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAG GGCGGGGCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02273.hp2 NA18966.hp2 others(3): Show HG01934.hp2 HG02273.hp2 NA18966.hp2 NA18979.hp2 NA19007.hp2 NA19086.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0012 a0016	a0001c0001 a0001c0004 a0002c0058 others(3): Show a0001c0001 a0001c0004 a0002c0058 a0007c0008 a0012c0015 a0016c0014	a0001c0001t0002 a0001c0004t0072 a0002c0058t0004 others(3): Show a0001c0001t0002 a0001c0004t0072 a0002c0058t0004 a0007c0008t0003 a0012c0015t0033 a0016c0014t0017	a0001c0001t0002g0195 a0001c0004t0072g0164 a0002c0058t0004g0219 others(3): Show a0001c0001t0002g0195 a0001c0004t0072g0164 a0002c0058t0004g0219 a0007c0008t0003g0199 a0012c0015t0033g0188 a0016c0014t0017g0220	6	292	0.0206	-60	c.-49 others(69): Show c.-496_-437delCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		337		chr17	TogoVar
RNF213_chr17_80255852_80403794	80315701	AGGTAATG others(53): Show AGGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTG GAGGTGACAGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0132 a0001c0132	a0001c0132t0026 a0001c0132t0026	a0001c0132t0026g0006 a0001c0132t0026g0006	1	292	0.0034	-60	c.281 others(79): Show c.2812-1483_2812-1424delAATGGAAGTGATGGTGGAGGTACTGG AGGTGATGGTGGTGGTGGTGGAGGTGACAGTGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1077511	GGGGAGGC others(53): Show GGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGG GACTCCGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-60	c.-35 others(71): Show c.-3565_-3506delGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCA CGGAGTCCCCATAGACTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3206		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077601	CGGGAGGC others(53): Show CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA18947.hp2 HG02630.hp1 NA18947.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0004c0005t0023 a0003c0004t0001 a0004c0005t0023	a0003c0004t0001g0002 a0004c0005t0023g0041 a0003c0004t0001g0002 a0004c0005t0023g0041	2	324	0.0062	-60	c.-36 others(71): Show c.-3655_-3596delCCAACGGAGTCCCCATAGCCTCAGCCTCCCCCAA CGGAGTCCCCATAGACTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3296		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078033	TCTATGGG others(53): Show TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0023 a0002c0003t0015g0023	1	324	0.0031	-60	c.-40 others(71): Show c.-4087_-4028delCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTC AGCCTCCCCCAACGGAGTCCCCATAG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3728		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078775	AGGCTGAG others(53): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGAGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	324	0.0031	-60	c.-48 others(71): Show c.-4829_-4770delACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4470		chr1	TogoVar
RNF223_chr1_1065967_1079306	1079131	CGGGAGGC others(53): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	324	0.0031	-60	c.-51 others(71): Show c.-5185_-5126delCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4826		chr1	TogoVar
RNF223_chr1_1065967_1079306	1079165	AGGCTGAG others(53): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	-60	c.-52 others(71): Show c.-5219_-5160delACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4860		chr1	TogoVar
RNF38_chr9_36331400_36405269	36341807	TATATATA others(53): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(167): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0391 a0001c0001t0002g0392 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0230 a0001c0001t0003g0384 a0001c0001t0009g0087 a0001c0001t0009g0092 a0001c0001t0009g0155 a0001c0001t0011g0238 a0001c0001t0011g0241 a0001c0001t0017g0178 a0001c0001t0020g0108 a0001c0001t0021g0038 a0001c0001t0022g0097	175	402	0.4353	-60	c.148 others(77): Show c.1485+458_1485+517delTTATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNGTT_chr6_88604897_88968618	88907354	TTTGTAAG others(53): Show TTTGTAAGTGTTTGACAGTTCCTCCTTCACATGCCCTCTCTCTCTCTTCT CACCACTAAGA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp2 HG03486.hp2 others(3): Show HG03098.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0168 a0001c0001t0002g0129 a0001c0001t0006g0130	6	220	0.0273	-60	c.368 others(75): Show c.368-974_368-915delTCTTAGTGGTGAGAAGAGAGAGAGAGGGCA TGTGAAGGAGGAACTGTCAAACACTTACAA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	4/15			chr6	TogoVar
RORA_chr15_60483284_61234302	60501111	TGTCTTAG others(53): Show TGTCTTAGGAGAAAAACCTAGGTCTTAGGTTTTCCTAAGGTTCTCCTAAG TCCAATAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02258.hp1 others(4): Show HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG03669.hp2 HG04115.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0004t0008 a0001c0004t0019 others(1): Show a0001c0001t0008 a0001c0004t0008 a0001c0004t0019 a0001c0004t0041	a0001c0001t0008g0033 a0001c0004t0008g0005 a0001c0004t0008g0071 others(4): Show a0001c0001t0008g0033 a0001c0004t0008g0005 a0001c0004t0008g0071 a0001c0004t0008g0095 a0001c0004t0019g0006 a0001c0004t0019g0069 a0001c0004t0041g0063	7	118	0.0593	-60	c.118 others(76): Show c.1184-102_1184-43delCTTCTATTGGACTTAGGAGAACCTTAGGA AAACCTAAGACCTAGGTTTTTCTCCTAAGAC	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	8/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60516149	ATATATAT others(53): Show ATATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02965.hp1 others(3): Show HG02451.hp1 HG02572.hp1 HG02965.hp1 HG03139.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0004 a0001c0005t0025 a0001c0006t0004 a0001c0005t0004 a0001c0005t0025 a0001c0006t0004	a0001c0005t0004g0024 a0001c0005t0004g0027 a0001c0005t0004g0082 others(3): Show a0001c0005t0004g0024 a0001c0005t0004g0027 a0001c0005t0004g0082 a0001c0005t0025g0100 a0001c0006t0004g0001 a0001c0006t0004g0078	6	118	0.0509	-60	c.283 others(77): Show c.283-1452_283-1393delAATATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60597573	TACACATA others(53): Show TACACATATATATATATATATACACATATATATATATATATATATACATA CATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp2 HG01358.hp2 others(4): Show HG01169.hp2 HG01257.hp2 HG01358.hp2 HG02572.hp1 HG02738.hp2 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0042 a0001c0001t0043 a0001c0001t0050 a0001c0005t0004	a0001c0001t0001g0083 a0001c0001t0002g0045 a0001c0001t0011g0021 others(4): Show a0001c0001t0001g0083 a0001c0001t0002g0045 a0001c0001t0011g0021 a0001c0001t0042g0112 a0001c0001t0043g0087 a0001c0001t0050g0062 a0001c0005t0004g0082	7	118	0.0593	-60	c.197 others(79): Show c.197-65782_197-65723delGTATATATATGTATGTATATATATAT ATATATATATGTGTATATATATATATATATGTGT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPL3L_chr16_1938974_1959689	1949962	GGCAGGTA others(53): Show GGCAGGTATGGACGGGGCAGGTATGGACAGGGCAGGTATGTAGGGGGCAG GTATGTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03471.hp2 NA18906.hp2 others(1): Show HG02258.hp2 HG03471.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0001g0102 a0001c0001t0002g0066 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0102 a0001c0001t0002g0066 a0001c0001t0002g0101	4	450	0.0089	-60	c.501 others(75): Show c.501+822_501+881delTCCCTACATACCTGCCCCCTACATACCTGC CCTGTCCATACCTGCCCCGTCCATACCTGC	RPL3L	ENSG00000140986.8	transcript	ENST00000268661.8	protein_coding	4/9			chr16	TogoVar
RRP12_chr10_97351701_97406340	97404302	AAACTGTG others(53): Show AAACTGTGTGGTAGTATCTACTAAAACTGAATACAGTCTTGCTCCATGAC CCAGCAATACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0241 a0003c0002t0001g0241	1	400	0.0025	-60	c.-31 others(71): Show c.-3131_-3072delGGTATTGCTGGGTCATGGAGCAAGACTGTATTCA GTTTTAGTAGATACTACCACACAGTT	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding		2963		chr10	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(53): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp2 HG01358.hp1 others(21): Show HG00609.hp1 HG01261.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG02155.hp1 HG02293.hp1 HG02976.hp1 HG03688.hp2 HG03942.hp2 NA18957.hp1 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18982.hp1 NA18986.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19074.hp2 NA19086.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 others(21): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0306 a0001c0001t0001g0308	24	314	0.0764	-60	c.421 others(77): Show c.421+3907_421+3966delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RTN1_chr14_59590983_59875776	59749328	CTATATAT others(53): Show CTATATATATCTATATATATCTATATATATCTATATATATATCTATATAT CTATATCTATA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18747.hp2 NA18984.hp2 others(1): Show HG01081.hp2 NA18747.hp2 NA18984.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0093 a0001c0001t0001g0098	4	172	0.0233	-60	c.242 others(77): Show c.242-2907_242-2848delTATAGATATAGATATATAGATATATATA TAGATATATATAGATATATATAGATATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RYR2_chr1_237037184_237838988	237591137	CCTCCTCC others(53): Show CCTCCTCCTCCCCCTCCTCCTCTTCCCCCTTCTCCTCCTCCCCCTTCTCC TCCTCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0029 a0001c0005t0006g0029	1	100	0.0100	-60	c.416 others(77): Show c.4160+160_4160+219delCCTCCTCTTCCCCCTTCTCCTCCTCCCC CTTCTCCTCCTCCCCCTTCTCCTCCTCCCCCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	31/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(53): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp1 HG01928.hp1 others(7): Show HG00280.hp2 HG01192.hp1 HG01928.hp1 HG01934.hp1 HG02273.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0019 a0002c0004t0011 a0002c0004t0015	a0001c0001t0002g0022 a0001c0001t0005g0256 a0001c0001t0005g0307 others(7): Show a0001c0001t0002g0022 a0001c0001t0005g0256 a0001c0001t0005g0307 a0002c0002t0001g0210 a0002c0002t0001g0305 a0002c0002t0003g0319 a0002c0002t0009g0236 a0002c0002t0019g0150 a0002c0004t0011g0279 a0002c0004t0015g0293	10	322	0.0311	-60	c.157 others(77): Show c.157-2501_157-2442delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148406765	AATCAGGC others(53): Show AATCAGGCTCTCCAAGGGAGGAGCAGAGAGAATCAGGCTCTCCAAGGGAG GAACAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp1 HG02451.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0086 a0001c0001t0005g0256 a0001c0001t0002g0086 a0001c0001t0005g0256	2	322	0.0062	-60	c.285 others(79): Show c.285+16511_285+16570delTCTCCAAGGGAGGAGCAGAGAGAATC AGGCTCTCCAAGGGAGGAACAGAGAGGATCAGGC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF11_chr12_45914131_45995574	45972869	TATATATA others(53): Show TATATATATATAGATATATATATAGATATATATATATATAGATATATATA TAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0222 a0001c0006t0001g0222	1	344	0.0029	-60	c.-21 others(77): Show c.-21-8741_-21-8682delCTATATATCTATATATATATCTATATAT ATATATATCTATATATATATCTATATATATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(53): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	370	0.0027	-60	c.-47 others(71): Show c.-4727_-4668delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCN11A_chr3_38840764_39056944	38877260	ATATATAT others(53): Show ATATATATGGTATATATATGGTGTATATACTATATATATGGTATATATAT GGTGTATATAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00639.hp1 others(15): Show HG00323.hp2 HG00597.hp2 HG00639.hp1 HG01257.hp2 HG01516.hp2 HG01517.hp2 HG02040.hp2 HG02056.hp2 HG02735.hp2 NA18942.hp1 NA18947.hp2 NA18959.hp2 NA18989.hp1 NA18993.hp2 NA18999.hp2 NA19055.hp1 NA19066.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0003 a0001c0002t0001 a0001c0006t0003	a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 others(15): Show a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0196 a0001c0006t0003g0291 a0001c0006t0003g0292	18	314	0.0573	-60	c.339 others(79): Show c.3393+2630_3393+2689delGTATATACACCATATATATACCATAT ATATAGTATATACACCATATATATACCATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCNN1B_chr16_23297302_23386294	23333095	GAGGAAGG others(53): Show GAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAA GGAAAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp2 HG02056.hp1 others(6): Show HG00408.hp1 HG01496.hp2 HG02056.hp1 HG02622.hp1 HG03492.hp1 HG03942.hp2 HG04184.hp1 NA18906.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0031 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0106 a0001c0001t0007g0290 a0001c0002t0001g0214 a0001c0008t0001g0291	9	306	0.0294	-60	c.-8- others(77): Show c.-8-15481_-8-15422delGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289033	TCCCCCGA others(53): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0075 a0002c0002t0013g0075	1	290	0.0035	-60	c.166 others(79): Show c.1662+1000_1662+1059delCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289165	TCCCCCGT others(53): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0001 a0019c0026t0001	a0019c0026t0001g0014 a0019c0026t0001g0014	1	290	0.0035	-60	c.166 others(79): Show c.1663-1102_1663-1043delCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE2_chr11_9014476_9096599	9040506	CAGGAGAA others(53): Show CAGGAGAAAGGGAGGATTCATATCCCAGGCAGGATGGGGAGGGTACACAG CATGGGTACGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(128): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0010 a0012 a0013 a0014 a0019 a0026	a0001c0001 a0002c0002 a0002c0013 others(9): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003 a0004c0004 a0005c0005 a0010c0012 a0012c0016 a0013c0014 a0014c0036 a0019c0028 a0026c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0025 a0001c0001t0026 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 a0002c0002t0015 a0002c0013t0002 a0003c0003t0002 a0004c0004t0007 a0004c0004t0009 a0005c0005t0001 a0005c0005t0009 a0005c0005t0010 a0005c0005t0020 a0010c0012t0010 a0010c0012t0014 a0012c0016t0007 a0013c0014t0002 a0014c0036t0003 a0019c0028t0014 a0026c0018t0002	a0001c0001t0002g0219 a0001c0001t0002g0277 a0001c0001t0002g0314 others(126): Show a0001c0001t0002g0219 a0001c0001t0002g0277 a0001c0001t0002g0314 a0001c0001t0003g0220 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0291 a0001c0001t0003g0296 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0302 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0323 a0001c0001t0003g0325 a0001c0001t0003g0328 a0001c0001t0003g0330 a0001c0001t0003g0346 a0001c0001t0003g0352 a0001c0001t0004g0254 a0001c0001t0004g0259 a0001c0001t0004g0289 a0001c0001t0004g0320 a0001c0001t0005g0218 a0001c0001t0005g0222 a0001c0001t0007g0329 a0001c0001t0011g0003 a0001c0001t0012g0335 a0001c0001t0025g0332 a0001c0001t0026g0265 a0002c0002t0001g0035 a0002c0002t0001g0086 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0036 a0002c0002t0002g0048 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0067 a0002c0002t0002g0079 a0002c0002t0002g0085 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0005g0103 a0002c0002t0009g0075 a0002c0002t0015g0100 a0002c0013t0002g0033 a0002c0013t0002g0034 a0003c0003t0002g0002 a0003c0003t0002g0126 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0156 a0004c0004t0007g0238 a0004c0004t0007g0239 a0004c0004t0007g0244 a0004c0004t0007g0252 a0004c0004t0007g0255 a0004c0004t0007g0271 a0004c0004t0007g0272 a0004c0004t0007g0282 a0004c0004t0007g0285 a0004c0004t0007g0286 a0004c0004t0007g0307 a0004c0004t0007g0308 a0004c0004t0007g0321 a0004c0004t0007g0322 a0004c0004t0007g0347 a0004c0004t0007g0354 a0004c0004t0009g0318 a0005c0005t0001g0070 a0005c0005t0009g0009 a0005c0005t0009g0022 a0005c0005t0009g0023 a0005c0005t0009g0027 a0005c0005t0009g0028 a0005c0005t0009g0047 a0005c0005t0009g0058 a0005c0005t0009g0074 a0005c0005t0009g0078 a0005c0005t0009g0117 a0005c0005t0009g0118 a0005c0005t0010g0037 a0005c0005t0020g0072 a0010c0012t0010g0144 a0010c0012t0014g0196 a0012c0016t0007g0216 a0012c0016t0007g0217 a0013c0014t0002g0124 a0013c0014t0002g0125 a0014c0036t0003g0351 a0019c0028t0014g0171 a0026c0018t0002g0081	131	358	0.3659	-60	c.200 others(79): Show c.2003-6770_2003-6711delACGTACCCATGCTGTGTACCCTCCCC ATCCTGCCTGGGATATGAATCCTCCCTTTCTCCT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22			chr11	TogoVar
SCYL3_chr1_169844631_169898896	169850985	TTTTTTTT others(53): Show TTTTTTTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGGTAA GCTCAGGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp1 others(9): Show HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01256.hp1 HG01978.hp1 HG02683.hp2 HG02723.hp1 HG02897.hp2 HG03710.hp2 HG03831.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0103 a0001c0003t0009 a0001c0003t0103	a0001c0003t0009g0032 a0001c0003t0009g0033 a0001c0003t0009g0034 others(6): Show a0001c0003t0009g0032 a0001c0003t0009g0033 a0001c0003t0009g0034 a0001c0003t0009g0216 a0001c0003t0009g0219 a0001c0003t0009g0221 a0001c0003t0009g0228 a0001c0003t0009g0231 a0001c0003t0103g0222	12	418	0.0287	-60	c.26 others(71): Show c.2668_*2727delGGGCCCTGAGCTTACCCTGGCTTGGGAGGCTGCC CAAATAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2668		chr1	TogoVar
SDHA_chr5_213320_262082	259777	AGCTCCGC others(53): Show AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCG AGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	266	0.0038	-60	c.33 others(71): Show c.3358_*3417delGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCCGAGCATTACCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2696		chr5	TogoVar
SDHA_chr5_213320_262082	259937	AGCTCCGC others(53): Show AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG04228.hp2 HG01516.hp2 HG04228.hp2	a0001 a0005 a0001 a0005	a0001c0009 a0005c0006 a0001c0009 a0005c0006	a0001c0009t0002 a0005c0006t0002 a0001c0009t0002 a0005c0006t0002	a0001c0009t0002g0063 a0005c0006t0002g0048 a0001c0009t0002g0063 a0005c0006t0002g0048	2	266	0.0075	-60	c.35 others(71): Show c.3518_*3577delGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGCCAGAGCATTACCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2856		chr5	TogoVar

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