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
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(193): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTAATAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATATATATCTA A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	222	0.0045	200	c.38- others(215): Show c.38-2397_38-2396insTTAGATATATATAATATATATATCTATTAG ATATATATAATAATATATATATCTATTAGATATATATAATAATATATATA TCTATTAGATATATATAATAATATATATATCTATTAGATATATATAATAA TATATATATCTATTAGATATATATAATAATATATATATCTAATAGATATA TATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RADIL_chr7_4792055_4888716	4808721	A A	AACGCCAC others(193): Show AACGCCACTGCCCCTCCGCGTCTCCTTCCAACGCCACTGCCCCCCGTTCC GACGCCACTGCCCTCCATTCCAACACCACTGCCCCTCCGTGTCTCCTTCC GACGCCACTGCCCCTCCGCGTCTCCTTCCAACGCCACTGCCCCCCGTTCC GACGCCACTGCCCTCCATTCCAACACCACTGCCCCTCCGTTTCTCCTTCC G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	288	0.0035	200	c.214 others(219): Show c.2140-3006_2140-3005insCGGAAGGAGAAACGGAGGGGCAGTGG TGTTGGAATGGAGGGCAGTGGCGTCGGAACGGGGGGCAGTGGCGTTGGAA GGAGACGCGGAGGGGCAGTGGCGTCGGAAGGAGACACGGAGGGGCAGTGG TGTTGGAATGGAGGGCAGTGGCGTCGGAACGGGGGGCAGTGGCGTTGGAA GGAGACGCGGAGGGGCAGTGGCGT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(193): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATGTGTATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATGT G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0213 a0003c0004t0001g0213	1	48	0.0208	200	c.-49 others(217): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALGAPA2_chr20_20384530_20717644	20458822	C C	CTATATAT others(193): Show CTATATATATATAGACCTATATATATATAGACCTATATATATATAGACCT ATATATATAGACCTATATATATATAGACCTATATATATAGACCTATATAT ATATAGACCTATATATATAGACCTATATATATATAGACCTATATATATAG ACCTATATATATAGACCTATATATATATAGACCTATATATATATAGACCT A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	101	0.0099	200	c.549 others(221): Show c.5495+14006_5495+14007insTAGGTCTATATATATATAGGTCTA TATATATATAGGTCTATATATATAGGTCTATATATATAGGTCTATATATA TATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATAGG TCTATATATATATAGGTCTATATATATAGGTCTATATATATATAGGTCTA TATATATATAGGTCTATATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RASA3_chr13_113972783_114137623	114120337	G G	GCCAGGCG others(193): Show GCCAGGCGTCGATCAAGTCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAG GGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTC CAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATC AAGTCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTC T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	47	0.0213	200	c.55+ others(217): Show c.55+12097_55+12098insAGAGAGGGAGGGGCCCTGATCGACGCCT GGCTGGAGAGAAGGGGGGGACTTGATCGACGCCTGGCTGGAGAGAGGGAG GGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGC CTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAAGG GGGGGACTTGATCGACGCCTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420671	C C	CCCATCCC others(193): Show CCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCC GTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCAT CCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCC ATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCG T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00673.hp1 others(36): Show HG00438.hp1 HG00621.hp1 HG00673.hp1 HG01192.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03490.hp1 HG03492.hp2 HG03927.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18956.hp2 NA18966.hp2 NA18967.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18999.hp1 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0285 others(28): Show a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0285 a0001c0001t0002g0116 a0001c0001t0003g0002 a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0106 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0211 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0293 a0001c0001t0005g0115 a0001c0001t0005g0118 a0001c0001t0015g0212	39	446	0.0874	200	c.757 others(215): Show c.757-198_757-197insATCCCCCGTCCCCATCCCCCATCCCCCGTC CCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCC CGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTC CCCATCCCCCATCCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCC CCGTCCCCCATCCCCCGTCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6637242	T T	TATATATT others(193): Show TATATATTATATATTATACAATATATATTATATATTGTATATTATATATA TTATATAATATATAATATATAATATATATTATATAATATATAATATATAA TATATATTATATAATATATAATATATAATATATATTATATAATATATAAT ATATAATATATATTATATATTATATATATAATATATAATATATATTATAT A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0055 a0001c0001t0019g0055	1	68	0.0147	200	c.-63 others(219): Show c.-63-17355_-63-17354insTATATATTATACAATATATATTATAT ATTGTATATTATATATATTATATAATATATAATATATAATATATATTATA TAATATATAATATATAATATATATTATATAATATATAATATATAATATAT ATTATATAATATATAATATATAATATATATTATATATTATATATATAATA TATAATATATATTATATAATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(193): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	74	0.0135	200	c.62- others(217): Show c.62-40020_62-40019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(193): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTGTATACATACATACGTATGTGTATACATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	200	c.-23 others(211): Show c.-2310_-2309insGTATGTATACACATACGTATGTATGTATACACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATATGTATGCAT ACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(193): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTGTA TACATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18971.hp1 NA19062.hp1 others(1): Show NA18943.hp2 NA18971.hp1 NA19062.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	327	0.0122	200	c.-23 others(211): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATATGTATGCAT ACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(193): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTGTA TACATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	200	c.-23 others(211): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGCATACACATACATATGTATGCAT ACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RFX3_chr9_3213297_3531001	3504757	A A	ATATATAG others(193): Show ATATATAGTATATGCTATATGGTATATATTGTATATAAAATATATAGTAT ATGCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGG TATATATTGTATATAAAATATATATTATATGCTATATGGTATATATTGTA TATAAAATATATATTATATGCTATATGGTATATATTGTATATAAAATATA T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0168 a0001c0001t0010g0168	1	118	0.0085	200	c.-9+ others(217): Show c.-9+20989_-9+20990insATATATTTTATATACAATATATACCATA TAGCATATAATATATATTTTATATACAATATATACCATATAGCATATAAT ATATATTTTATATACAATATATACCATATAGCATATAATATATATTTTAT ATACAATATATACCATATAGCATATACTATATATTTTATATACAATATAT ACCATATAGCATATACTATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RHOT2_chr16_663132_679171	665275	C C	CAGCCTGC others(193): Show CAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCAGCCTCAGTCTG TAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCAGCCTCAGTCTG TAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCAGCCTCAGTCTG TAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCAGCCTCAGTCTG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0010 a0002c0009t0004g0010	1	378	0.0026	200	c.-29 others(211): Show c.-2925_-2924insAGCCTGCTAGGGACGCACGGCCACACTCCTGTCT TTCAGCCTCAGTCTGTAGCCTGCTAGGGACGCACGGCCACACTCCTGTCT TTCAGCCTCAGTCTGTAGCCTGCTAGGGACGCACGGCCACACTCCTGTCT TTCAGCCTCAGTCTGTAGCCTGCTAGGGACGCACGGCCACACTCCTGTCT TTCAGCCTCAGTCTGT	RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding		2856		chr16	TogoVar
RNASE10_chr14_20500537_20518884	20505258	T T	TCCTCTCC others(193): Show TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0141 a0002c0002t0040g0141	1	382	0.0026	200	c.-76 others(209): Show c.-767_-766insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		278		chr14	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AGATATAT others(193): Show AGATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTT AAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATAT ATATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATA TTTTTATATATATATATTTATATATATATTTTTAAATATATATATATATT T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	6	0.1667	200	c.182 others(217): Show c.182-2718_182-2717insGATATATATTAAATTATATATATTAAAA TATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTA AAAATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAAT ATATATATATTTATATATATATTTTTATATATATATATTTATATATATAT TTTTAAATATATATATATATTT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AGATATAT others(193): Show AGATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTT AAATTATATAATTTAAATATACATATTTAAAGATATATATATTTAAATAT ATATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATA TTTTTATATATATATATTTATATATATATTTTTAAATATATATATATATT T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	6	0.1667	200	c.182 others(217): Show c.182-2718_182-2717insGATATATATTAAATTATATATATTAAAA TATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTA AAGATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAAT ATATATATATTTATATATATATTTTTATATATATATATTTATATATATAT TTTTAAATATATATATATATTT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GAGCGGGG others(193): Show GAGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTG GGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGC GCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGC CCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCG C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	88	0.0114	200	c.-36 others(215): Show c.-367+46_-367+47insAGCGGGGTGGAGTGGGGTGGGGTGGGGTGG GGTGGGGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGG GGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGA GGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCC GCCGCCCCCGCCGCCCCCGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2			chr6	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(193): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTG GGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGC GCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGC CCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCG C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01167.hp1 others(33): Show HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18992.hp1 NA18992.hp2 NA19003.hp2 NA19009.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19089.hp2 NA19091.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0002c0005t0004	a0001c0001t0001g0261 a0001c0001t0002g0009 a0001c0001t0002g0026 others(28): Show a0001c0001t0001g0261 a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0260 a0001c0001t0004g0251 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0007g0246 a0001c0001t0009g0245 a0001c0001t0014g0240 a0002c0005t0004g0257	36	123	0.2927	200	c.-36 others(215): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGT GCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGA AACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCC GCCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(193): Show GGGCGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTG GGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGC GCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGC CCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCG C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18957.hp2 NA19002.hp1 NA18949.hp1 NA18957.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267	3	90	0.0333	200	c.-36 others(215): Show c.-367+49_-367+50insGGGGTGGGGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGT GCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGA AACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCC GCCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF213_chr17_80255852_80403794	80274759	T T	TGTGGGGG others(193): Show TGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGGGTGAGTGGGG TGAGTGTGGGGTGTGAGTGGGGTGTCTGTGGGGGTGTGGGGTGAGTGTGT GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTG AGTGGGGTGAGTGTGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTG A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG02083.hp1 others(11): Show HG00423.hp1 HG00597.hp1 HG02083.hp1 HG03139.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA19010.hp1 NA19066.hp1 NA19081.hp2 NA20300.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0037 a0077 a0092 a0102	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0125 a0002c0002 a0002c0027 a0002c0060 a0002c0121 a0007c0008 a0037c0055 a0077c0101 a0092c0122 a0102c0127	a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 a0001c0004t0002 a0001c0125t0010 a0002c0002t0005 a0002c0027t0006 a0002c0060t0005 a0002c0121t0002 a0007c0008t0004 a0037c0055t0005 a0077c0101t0002 a0092c0122t0002 a0102c0127t0009	a0001c0001t0001g0069 a0001c0001t0019g0079 a0001c0003t0001g0071 others(11): Show a0001c0001t0001g0069 a0001c0001t0019g0079 a0001c0003t0001g0071 a0001c0004t0002g0073 a0001c0125t0010g0070 a0002c0002t0005g0072 a0002c0027t0006g0074 a0002c0060t0005g0075 a0002c0121t0002g0063 a0007c0008t0004g0078 a0037c0055t0005g0077 a0077c0101t0002g0061 a0092c0122t0002g0076 a0102c0127t0009g0062	14	289	0.0484	200	c.261 others(217): Show c.261+1361_261+1362insGGTGAGTGGGGTGAGTGGGGGGGTGAGT GGGGGGTGAGTGGGGTGAGTGTGGGGTGTGAGTGGGGTGTCTGTGGGGGT GTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGTCTGG GGGGTGAGTGGGGTGAGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
ROCK2_chr2_11174759_11349636	11330945	G G	GGAGGAGG others(193): Show GGAGGAGGAGGGAGGATGGAGTAGGAGGGGGGAGGACGCAGTAGGAGGGG GGAGGAGGGGGGAGGAGGAGGGGGAGGAGGGAGTAGGAGGGGGGAGGAGG ACGAGGGAGGAAGAGGAAAGAGGAGGGAGTAGGAGGGGAGGAGGAGGGAG GAGGAAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGG A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	20	0.0500	200	c.141 others(219): Show c.141+13050_141+13051insTCCTCCCTCCTCCTCCCCCTCCTCCT CCCTCCTCCTCCCTCCTCCTTCCTCCTCCCTCCTCCTCCCCTCCTACTCC CTCCTCTTTCCTCTTCCTCCCTCGTCCTCCTCCCCCCTCCTACTCCCTCC TCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTACTGCGTCCTCCCCCCT CCTACTCCATCCTCCCTCCTCCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPA2_chr1_27886524_27919575	27916916	C C	CCCTCCCT others(193): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	337	0.0030	200	c.-24 others(211): Show c.-2474_-2473insAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGGAGG GAGGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGG AAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGG AAGGGAGGGAGGGAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2342		chr1	TogoVar
RPH3AL_chr17_207389_357807	235370	G G	GGCGGAGG others(193): Show GGCGGAGGCTCTGCACTAACAAGATGGATCCCGGGTTCAAAGCTGGGGTC GGCGGAGGCTCCACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTC GGTGGAGGCTCCACACTAACAAGACGGATCCCGGGTTCAAAGCTGGGGTC GGCGGAGGCTCCACACTAACAAGATGGATCCAGGGTTCAAAGCTGGGGTC A	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18995.hp2 NA19005.hp2 HG03831.hp2 NA18995.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0026 a0001c0001t0001 a0001c0001t0002 a0001c0004t0026	a0001c0001t0001g0091 a0001c0001t0002g0029 a0001c0004t0026g0013 a0001c0001t0001g0091 a0001c0001t0002g0029 a0001c0004t0026g0013	3	132	0.0227	200	c.613 others(219): Show c.613+11740_613+11741insTGACCCCAGCTTTGAACCCTGGATCC ATCTTGTTAGTGTGGAGCCTCCGCCGACCCCAGCTTTGAACCCGGGATCC GTCTTGTTAGTGTGGAGCCTCCACCGACCCCAGCTTTGAACCCGGGACCC GTCTTGTTAGTGTGGAGCCTCCGCCGACCCCAGCTTTGAACCCGGGATCC ATCTTGTTAGTGCAGAGCCTCCGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235451	A A	CGGGTTCA others(193): Show CGGGTTCAAAGCTGGGGTCGGTGGAGGCTCCACACTAACAAGACGGATCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGATGGATCC AGGGTTCAAAGCTGGGGTCAGCGGAGGCTCTACACTAACAAGACAGGTCC CGGGTTCAAAGCTGGGGTCAGCGGAGGTTCCACACTAACAAGACGGATCC A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0007 a0006c0007t0007	a0006c0007t0007g0117 a0006c0007t0007g0117	1	119	0.0084	200	c.613 others(219): Show c.613+11660_613+11661insGGATCCGTCTTGTTAGTGTGGAACCT CCGCTGACCCCAGCTTTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCCT CCGCTGACCCCAGCTTTGAACCCTGGATCCATCTTGTTAGTGTGGAGCCT CCGCCGACCCCAGCTTTGAACCCGGGATCCGTCTTGTTAGTGTGGAGCCT CCACCGACCCCAGCTTTGAACCCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235719	C C	CGGCCGAG others(193): Show CGGCCGAGGCTCCGCAGTAACAAGAGGGATCCAGGGTTCAAAGCTGGGGT CGGCCGAGGCTCCGCACTAACAAGACAGATCCAGGGTTCAAAGCTGGGGT CGGCCGAGGCTCTACACTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGT CGGCGGAGGCTCTGCAGTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGT T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0081 a0001c0001t0016g0081	1	118	0.0085	200	c.613 others(219): Show c.613+11391_613+11392insAACCCCAGCTTTGAACCCGGGACCCG TCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCTTTGAACCCGGGACCCG TCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCTTTGAACCCTGGATCTG TCTTGTTAGTGCGGAGCCTCGGCCGACCCCAGCTTTGAACCCTGGATCCC TCTTGTTACTGCGGAGCCTCGGCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235732	A A	ACACTAAC others(193): Show ACACTAACAAGACGGATCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCC ACACTAACAAGATGGATCCAGGGTTCAAAGCTGGGGTCAGCGGAGGCTCT ACACTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCAGCGGAGGTTCC ACACTAACAAGATGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCC G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19005.hp2 NA18995.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0026 a0001c0001t0002 a0001c0004t0026	a0001c0001t0002g0029 a0001c0004t0026g0013 a0001c0001t0002g0029 a0001c0004t0026g0013	2	76	0.0263	200	c.613 others(219): Show c.613+11378_613+11379insCGGAGCCTCCGCCGACCCCAGCTTTG AACCCTGGATCCATCTTGTTAGTGTGGAACCTCCGCTGACCCCAGCTTTG AACCCGGGACCTGTCTTGTTAGTGTAGAGCCTCCGCTGACCCCAGCTTTG AACCCTGGATCCATCTTGTTAGTGTGGAGCCTCCGCCGACCCCAGCTTTG AACCCGGGATCCGTCTTGTTAGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCCTTC others(193): Show ATCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0027 a0009c0010t0027	a0009c0010t0027g0086 a0009c0010t0027g0086	1	267	0.0037	200	c.-15 others(211): Show c.-1536_-1535insTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(193): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT T	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19070.hp1 HG02165.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0092 a0001c0023t0009 a0001c0001t0092 a0001c0023t0009	a0001c0001t0092g0029 a0001c0023t0009g0070 a0001c0001t0092g0029 a0001c0023t0009g0070	2	91	0.0220	200	c.348 others(219): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(193): Show CTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0170 a0001c0022t0001g0170	1	90	0.0111	200	c.348 others(219): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864276	C C	CGGCAGGT others(193): Show CGGCAGGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAGTGA TGGCAGGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAATGA CGGCAGGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAGTGA TGGCAAGTTTCTTCTCACAGATTTCCTACAGATGGAAAAGGTGAGCGTGA T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp1 NA18522.hp2 HG01884.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0066 a0001c0070 a0001c0005 a0001c0066 a0001c0070	a0001c0005t0075 a0001c0066t0058 a0001c0070t0020 a0001c0005t0075 a0001c0066t0058 a0001c0070t0020	a0001c0005t0075g0008 a0001c0066t0058g0126 a0001c0070t0020g0003 a0001c0005t0075g0008 a0001c0066t0058g0126 a0001c0070t0020g0003	3	186	0.0161	200	c.150 others(219): Show c.1509+6425_1509+6426insTGGCAGGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAATGACGGCAGGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAGTGATGGCAAGTTTCTTCTCACAGATTTCC TACAGATGGAAAAGGTGAGCGTGATGGCAGGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(193): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCCCGGGCGGGGGCTGGGGGGCGCGGGC C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0254 a0001c0001t0008g0254	1	359	0.0028	200	c.-22 others(209): Show c.-223_-222insGGCCCGCGCCCCCCAGCCCCCGCCCGGGCCCGCGCC CGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGGCCCGCC CCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGCGCGTCA AACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGCGCTGCGA GCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(193): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCC CGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0244 a0001c0003t0002g0244	1	219	0.0046	200	c.-58 others(207): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACC CCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCC CACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(193): Show TTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	136	0.0074	200	c.464 others(213): Show c.464+91_464+92insTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG TGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288240	C C	CGTGTCTC others(193): Show CGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCCG CTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCCGCTCCATTCCC T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	260	0.0038	200	c.166 others(217): Show c.1662+227_1662+228insGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCCGCTC CATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCCGCTCCATTCCCTGT GTCTCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCCCGTGT others(193): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	247	0.0040	200	c.166 others(217): Show c.1662+242_1662+243insTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCGTGTCT others(193): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	251	0.0040	200	c.166 others(217): Show c.1662+311_1662+312insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288520	C C	CCTGCTCC others(193): Show CCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	98	0.0102	200	c.166 others(217): Show c.1662+505_1662+506insCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCCCGTGT others(193): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0003 a0010c0019t0003	a0010c0019t0003g0169 a0010c0019t0003g0169	1	253	0.0040	200	c.166 others(219): Show c.1662+1040_1662+1041insTGTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCCCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289187	C C	CCGTGTCT others(193): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	272	0.0037	200	c.166 others(219): Show c.1663-1083_1663-1082insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444880	C C	CACATATA others(193): Show CACATATATACGTATGTATATATATACACATATATACGTATGTATATATA TACACATATATACGTATGTATATATATACACATATATACGTATGTATATA TATACACATATATACGTATGTATATATACACATATATACGTATGAATATA TACACATATATACGTATGAATATATACACATATATACGTATGAATATATA T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	261	0.0038	200	c.114 others(219): Show c.1140+1878_1140+1879insATATATATTCATACGTATATATGTGT ATATATTCATACGTATATATGTGTATATATTCATACGTATATATGTGTAT ATATACATACGTATATATGTGTATATATATACATACGTATATATGTGTAT ATATATACATACGTATATATGTGTATATATATACATACGTATATATGTGT ATATATATACATACGTATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444880	C C	CACATATA others(193): Show CACATATATACGTATGTATATATATACACATATATACGTATGTATATATA TACACATATATACGTATGTATATATATACACATATATACGTATGTATATA TATACACATATATACGTATGTATATATATACATATATACGTATGAATATA TATACATATATACGTATGAATATATATACATATATACGTATGAATATATA T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	261	0.0038	200	c.114 others(219): Show c.1140+1878_1140+1879insATATATATTCATACGTATATATGTAT ATATATTCATACGTATATATGTATATATATTCATACGTATATATGTATAT ATATACATACGTATATATGTGTATATATATACATACGTATATATGTGTAT ATATATACATACGTATATATGTGTATATATATACATACGTATATATGTGT ATATATATACATACGTATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGGTG others(193): Show GGGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCA GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAG A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0203 a0001c0005t0005g0203	1	130	0.0077	200	c.335 others(217): Show c.335+2772_335+2773insGTGACCCCCCCACCTCCCTCCCGGACGG GCCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACG GGGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGA GGCGGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGGTG others(193): Show GGGGGGTGACCCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC AGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAG A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	130	0.0077	200	c.335 others(217): Show c.335+2772_335+2773insGTGACCCCCCCCACCTCCCTCCCGGACG GGCCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAC GGGGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGA GGCGGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SERPINB9_chr6_2882270_2908309	2893193	T T	TATATATA others(193): Show TATATATATTATATATACGTATATATATATAATATATATATATTATATAT ACGTATATATAATATATATATTATATATACGTATATATAATATATATATT ATATATACGTATATATAATATATATATTATATATACGTATATATAATATA TATATTATATATACGTATATATAATATATATATTATATATACGTATATAT A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0063 a0001c0003t0063	a0001c0003t0063g0086 a0001c0003t0063g0086	1	414	0.0024	200	c.567 others(215): Show c.567+217_567+218insTATATATACGTATATATAATATATATATTA TATATACGTATATATAATATATATATTATATATACGTATATATAATATAT ATATTATATATACGTATATATAATATATATATTATATATACGTATATATA ATATATATATTATATATACGTATATATAATATATATATATTATATATATA TACGTATATATAATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(193): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCC C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0056 a0001c0001t0056g0056	1	76	0.0132	200	c.691 others(219): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(193): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCC C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02818.hp2 HG02735.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0097 a0001c0001t0007 a0001c0001t0097	a0001c0001t0007g0114 a0001c0001t0097g0105 a0001c0001t0007g0114 a0001c0001t0097g0105	2	77	0.0260	200	c.691 others(219): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(193): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCAGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0229 a0001c0002t0084g0229	1	121	0.0083	200	c.-32 others(217): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACTGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(193): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00609.hp1 others(22): Show HG00099.hp1 HG00408.hp1 HG00609.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG02622.hp1 HG02723.hp2 HG03654.hp1 NA18612.hp1 NA18943.hp2 NA18946.hp1 NA18953.hp1 NA18961.hp2 NA18973.hp1 NA18978.hp1 NA18985.hp1 NA18990.hp2 NA19070.hp2 NA19087.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0025 a0001c0001t0092 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0002t0030 a0001c0002t0057 a0001c0002t0075 a0001c0003t0011	a0001c0001t0001g0213 a0001c0001t0001g0307 a0001c0001t0002g0209 others(21): Show a0001c0001t0001g0213 a0001c0001t0001g0307 a0001c0001t0002g0209 a0001c0001t0002g0323 a0001c0001t0004g0231 a0001c0001t0007g0003 a0001c0001t0009g0210 a0001c0001t0010g0260 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0025g0046 a0001c0001t0092g0308 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0002g0105 a0001c0002t0005g0211 a0001c0002t0006g0109 a0001c0002t0006g0208 a0001c0002t0006g0212 a0001c0002t0028g0240 a0001c0002t0030g0327 a0001c0002t0057g0214 a0001c0002t0075g0170 a0001c0003t0011g0140	25	145	0.1724	200	c.-32 others(217): Show c.-32-1836_-32-1637dupGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(193): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA T	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18971.hp1 NA19007.hp1 HG02683.hp2 NA18971.hp1 NA19007.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0002 a0003c0005t0003 a0001c0001t0001 a0002c0002t0002 a0003c0005t0003	a0001c0001t0001g0023 a0002c0002t0002g0041 a0003c0005t0003g0076 a0001c0001t0001g0023 a0002c0002t0002g0041 a0003c0005t0003g0076	3	183	0.0164	200	c.165 others(217): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401625	A A	ACCCGACC others(193): Show ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	195	0.0051	200	c.42 others(211): Show c.4270_*4271insGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGG GGGTGAGCGGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4090		chr11	TogoVar

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