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
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(173): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATGCATACGTATGTATGTATGTGTATGCATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	180	c.-23 others(191): Show c.-2310_-2309insGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGCATACACATACATACATACGTATGCATACAC ATACATACATATGTATGCATACACATACATATGTATGCATACACATACAT ATGTATGCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RGPD3_chr2_106398406_106473413	106467377	C C	CGCCAGGG others(173): Show CGCCAGGGAGCAGCGCCCGTCGGGAGCCATGATGCCTGAGCCATCAAGGC AGCCGCCGGGCCAGGTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAG CAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGG CCGGGTCGAGGCCGCCGCCTCAACAGAGCAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0018 a0005c0005t0018	a0005c0005t0018g0228 a0005c0005t0018g0228	1	382	0.0026	180	c.72+ others(193): Show c.72+839_72+840insATGCTCTGTTGAGGCGGCGGCCTCGACCCGGC CCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGC TCCCTGGCGCGCTCTGTGGAGGCGGCGGCCTCGACCTGGCCCGGCGGCTG CCTTGATGGCTCAGGCATCATGGCTCCCGACGGGCGCTGCTCCCTGGC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828106	G G	GCGGCGGC others(173): Show GCGGCGGCCTCGACCTGGCCCGGTGGCGACCTCGATGGCTCAGGCGTCAT GGCTCCCGACGGCCGCTGCTCCCTGACGCGCTCTGTTGAGGCGGCGGCCT CGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGAC GGGCGCTGCTCCCTGGCGCGCTCTGTTGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0123 a0004c0004t0002g0123	1	374	0.0027	180	c.72+ others(195): Show c.72+1043_72+1044insTGGCGACCTCGATGGCTCAGGCGTCATGGC TCCCGACGGCCGCTGCTCCCTGACGCGCTCTGTTGAGGCGGCGGCCTCGA CCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGG CGCTGCTCCCTGGCGCGCTCTGTTGAGACGGCGGCCTCGACCTGGCCCGG	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828723	G G	GGCCGCGA others(173): Show GGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGC GCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCG ACCTGGCCCGGAGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGG GCGCTGCTCCCTGGCGCGCTCTGTTGAGGCA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0100 a0004c0004t0002g0100	1	374	0.0027	180	c.72+ others(195): Show c.72+1640_72+1641insCGCGATGGCTCAGGCGTCATGGCTCCCGAC GGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCC GGGCGGCGGCGGCCTCGACCTGGCCCGGAGGCGGCCTCGATGGCTCAGGC ATCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828922	C C	CGCGGCGG others(173): Show CGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTC CCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCC TTGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGC TCTGTTGAGGCGGCGGCCTCGACCTGGCCGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01070.hp2 others(15): Show HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01243.hp1 HG01496.hp1 HG01943.hp1 HG02145.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02965.hp2 HG03688.hp2 HG06807.hp2 NA18978.hp2 NA19003.hp2 NA19075.hp1	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0033	a0002c0046 a0005c0005 a0009c0011 others(1): Show a0002c0046 a0005c0005 a0009c0011 a0033c0049	a0002c0046t0002 a0005c0005t0004 a0009c0011t0004 others(1): Show a0002c0046t0002 a0005c0005t0004 a0009c0011t0004 a0033c0049t0004	a0002c0046t0002g0341 a0005c0005t0004g0336 a0005c0005t0004g0337 others(15): Show a0002c0046t0002g0341 a0005c0005t0004g0336 a0005c0005t0004g0337 a0005c0005t0004g0343 a0005c0005t0004g0347 a0005c0005t0004g0348 a0005c0005t0004g0349 a0005c0005t0004g0353 a0005c0005t0004g0354 a0005c0005t0004g0356 a0005c0005t0004g0358 a0005c0005t0004g0363 a0005c0005t0004g0366 a0009c0011t0004g0359 a0009c0011t0004g0360 a0009c0011t0004g0361 a0009c0011t0004g0362 a0033c0049t0004g0357	18	374	0.0481	180	c.72+ others(195): Show c.72+1916_72+1917insGACCCGGCCCGGCGGCGGCCTTGATGGCTC AGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGG CGGCGGCCTCGACCTGGCCGGGCGGCGGCCTCGATGGCTCAGGCGTCATG GCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(173): Show ACCCGGCCGGGGGTGGGGGGGGGGGGGAGGGGGGGGCGGCGGCGGCGGCG GCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCCTCGGCCCCGGCCCCGGCCGGGGGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCCTCGGCCCCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0012 a0012	a0012c0008 a0012c0008	a0012c0008t0007 a0012c0008t0007	a0012c0008t0007g0037 a0012c0008t0007g0037	1	40	0.0250	180	c.72+ others(191): Show c.72+48_72+49insTGGGGGGGGGGGGGAGGGGGGGGCGGCGGCGGCG GCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCCGGCCGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130646118	A A	ACCACCTC others(173): Show ACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTC CACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACCTCCCTCGCCACCTCCCTCACCACCTCCCTCACCACC TCCCTCTCCACCTCCCTCACCACTTCCCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0173 a0001c0003t0006g0173	1	180	0.0056	180	c.-35 others(201): Show c.-351-17663_-351-17662insAGAGGGAAGTGGTGAGGGAGGTGG AGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGCGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAG GGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGG AGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646142	A A	ACCACCTC others(173): Show ACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCAC CACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCA CCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACC TCCCTCACCACCTCCCTCTCCACCTGCCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0003 a0003c0041t0003	a0003c0041t0003g0068 a0003c0041t0003g0068	1	180	0.0056	180	c.-35 others(201): Show c.-351-17687_-351-17686insAGAGGCAGGTGGAGAGGGAGGTGG TGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTG AGGGAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAG GGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGG AGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646233	G G	GCCTCTCC others(173): Show GCCTCTCCACCTCCCTCACCACCTCCCTCACCACTTCCCTCACCACCTCC CTCTCCACCTCCCTCACCACCTGCCTCACCACCTCCCTCACCACCTCCCT CACCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCACCACCTCCCTCA CCACCTCCCTCACCACCTCCCTCTCCACCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0101 a0001c0022t0001g0101	1	180	0.0056	180	c.-35 others(201): Show c.-351-17778_-351-17777insGAGGTGGAGAGGGAGGTGGTGAGG GAGGTGGTGAGGGAGGTGGTGAGGCAGGTGGTGAGGGAGGTGGAGAGGGA GGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGCAGGTGGTGAGGGAGG TGGAGAGGGAGGTGGTGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTG GAGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646346	A A	ACCACCTG others(173): Show ACCACCTGCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCAC CACCTCCCTCACCACCTGCCTCACCACCTCCCTCGCCACCTCCCTCGCCA CCTCCCTCGCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACC TCCCTCACCACCTCCCTCACCACCTGCCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0052 a0007c0018t0001g0052	1	180	0.0056	180	c.-35 others(201): Show c.-351-17891_-351-17890insAGAGGCAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGCG AGGGAGGTGGCGAGGGAGGTGGCGAGGGAGGTGGTGAGGCAGGTGGTGAG GGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGC AGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646382	A A	ACCACCTC others(173): Show ACCACCTCCCTCATCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTC CACCTCCCTCACCACCTGCCTCATCACCTCCCTCTCCACCTCCCTCACCA CCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACC TGCCTCATCACCTCCCTCACCACCTGCCTCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0050 a0001c0008t0001g0050	1	180	0.0056	180	c.-35 others(201): Show c.-351-17927_-351-17926insCGAGGCAGGTGGTGAGGGAGGTGA TGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAG AGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGATGAGGCAGGTGGTGAG GGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGATGAGGG AGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIN2_chr20_19753258_20007456	19924379	C C	CCTTCATA others(173): Show CCTTCATACTCCCACCTTCATACTCCCACCTCTTCATACCCCTCCTTCAT ACCCTCACCTTCACACCCCACCTTCATACCCCACCTTCATACCCTCACCT TCACACCCCACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCCC ACCTTCACACTCCCACCTTCATTCCCCACCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0249 a0001c0001t0007g0249	1	276	0.0036	180	c.58- others(197): Show c.58-10716_58-10715insATACTCCCACCTTCATACTCCCACCTCT TCATACCCCTCCTTCATACCCTCACCTTCACACCCCACCTTCATACCCCA CCTTCATACCCTCACCTTCACACCCCACCTTCATACCCCACCTTCATACC CTCACCTTCATACCCCCACCTTCACACTCCCACCTTCATTCCCCACCTCT TC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(173): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG00733.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0011 a0001c0001t0013	a0001c0001t0011g0029 a0001c0001t0013g0029 a0001c0001t0011g0029 a0001c0001t0013g0029	2	396	0.0051	180	c.-76 others(189): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(173): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG02056.hp2 others(3): Show HG00642.hp2 HG00673.hp2 HG02056.hp2 NA18946.hp2 NA18995.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0046 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0046 a0001c0001t0007g0084 a0001c0001t0007g0139 a0001c0001t0008g0003	6	396	0.0152	180	c.-76 others(189): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(173): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGACACATCTAGAT AGATATATAGACACATCTAGATAGATATATAGACACATCTAGATAGATAT ATAGACACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	426	0.0024	180	c.22 others(191): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGACACATCTAGATAGATATATAGACACATCTAGATAGATATATAGACA CATCTAGATAGATATATAGACACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(173): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGACACATCTAGATAGATATATAGACACATCTAGATAGATAT ATAGACACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02976.hp1 HG02965.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0030 a0001c0002t0001g0033	2	426	0.0047	180	c.22 others(191): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGACACATCTAGATAGATATATAGACA CATCTAGATAGATATATAGACACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(173): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	426	0.0024	180	c.22 others(191): Show c.2236_*2237insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(173): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTC GCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCC GTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCG CCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG02056.hp1 others(15): Show HG00673.hp2 HG01243.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03516.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0006	a0001c0001t0001g0089 a0001c0001t0002g0085 a0001c0001t0002g0088 others(13): Show a0001c0001t0001g0089 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0003g0013 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0004g0087 a0001c0001t0008g0014 a0001c0001t0008g0086 a0001c0001t0008g0091 a0001c0002t0006g0084	18	356	0.0506	180	c.-36 others(195): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGC GGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCC GAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCC GACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCGGC	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(173): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTC GCGGAGGGAGGGGTGTCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCC GTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCG CCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0092 a0001c0001t0011g0092	1	356	0.0028	180	c.-36 others(195): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGC GGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGTCCGCACTCGGCTGCGCCC GAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCC GACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF223_chr1_1065967_1079306	1076607	G G	GTGCCGGG others(173): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGTGGCTGAGTCTA TGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTG GCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 NA19074.hp1 HG04228.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	324	0.0062	180	c.-26 others(191): Show c.-2602_-2601insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2302		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076637	G G	GTGCGGGG others(173): Show GTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTA TGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02129.hp1 HG01346.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	324	0.0062	180	c.-26 others(191): Show c.-2632_-2631insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCGTAGACTCAGCCTCCCCGCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2332		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076637	G G	GTGCGGGG others(173): Show GTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGAGGGGTGGCTGAGTCTA TGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG02071.hp2 others(6): Show HG00280.hp2 HG00673.hp1 HG02071.hp2 HG02135.hp1 HG02165.hp1 NA18747.hp2 NA18970.hp2 NA18987.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0014g0020 a0001c0001t0001g0001 a0001c0001t0014g0020	9	324	0.0278	180	c.-26 others(191): Show c.-2632_-2631insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2332		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076637	G G	GTGCGGGG others(173): Show GTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGAGGGGTGGCTGAGTCTA TGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTG GCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	180	c.-26 others(191): Show c.-2632_-2631insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2332		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076777	C C	CGGGGACT others(173): Show CGGGGACTCCGTGGGGGGAGGCTCAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGACGCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0009	1	324	0.0031	180	c.-27 others(191): Show c.-2772_-2771insATAGCCTCAGCGTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGA GTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGACTCAGCCTC CCGGCACGGAGTCCCCATAGCCTGAGCCTCCCCCCACGGAGTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2472		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077210	C C	CGGGGAGG others(173): Show CGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG CCGGGAGGCTGAGGCTATGGGGACTCCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	180	c.-32 others(191): Show c.-3205_-3204insCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2905		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077331	C C	CGGGAGGC others(173): Show CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGTCTACGGG GACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGACGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	324	0.0031	180	c.-33 others(191): Show c.-3326_-3325insCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCGTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCCCGCACGGAGTCCCCGTAGCCTCAGCCTCCCCCAACGGAGTCCCC GTAGACTCAGCCTCCCCCAACGGAGTCCCCATAGACTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3026		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077361	C C	CGGGAGGC others(173): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02004.hp1 HG03239.hp2 others(1): Show HG01192.hp1 HG02004.hp1 HG03239.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	324	0.0124	180	c.-33 others(191): Show c.-3356_-3355insCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3056		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077845	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	324	0.0031	180	c.-38 others(191): Show c.-3840_-3839insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3540		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077845	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	180	c.-38 others(191): Show c.-3840_-3839insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACAGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3540		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078205	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 NA18983.hp2 HG02109.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	324	0.0062	180	c.-42 others(191): Show c.-4200_-4199insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3900		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078475	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGATGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGCGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0043 a0002c0013t0001g0043	1	324	0.0031	180	c.-44 others(191): Show c.-4470_-4469insACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCC CGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCATCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4170		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116733346	T T	TTAATTTT others(173): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0003 a0001c0002t0005g0003	1	268	0.0037	180	c.-51 others(191): Show c.-5178_-5177insTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding		4968		chr12	TogoVar
ROBO2_chr3_77035099_77654964	77317726	A A	AGGGGGGC others(173): Show AGGGGGGCTGCTGGGGGGGCTGCTGGGGGGCTGCTGGGGGGCTGCTAGGG GCGCTGCTGGGGGGCTGCTAGGGGGGCTGCTGGGGGGGCTGCTGGGGGGC TGCTGGGGGGCTGCTAGGGGGCTGCTGGGGGGCTGCTGGGGGGCTGCTGG GGGGCTGCTGGGGGGCTGCTAGGGGGCTGCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0022 a0001c0001t0006g0023	2	160	0.0125	180	c.389 others(201): Show c.389-159546_389-159545insCTGCTGGGGGGCTGCTGGGGGGCT GCTAGGGGGCTGCTGGGGGGCTGCTGGGGGGGCTGCTGGGGGGCTGCTGG GGGGCTGCTAGGGGCGCTGCTGGGGGGCTGCTAGGGGGGCTGCTGGGGGG GCTGCTGGGGGGCTGCTGGGGGGCTGCTAGGGGGCTGCTGGGGGGCTGCT GGGGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11330884	T T	TGGGAGGG others(173): Show TGGGAGGGGGGGGGGGGGGGGTGGGGGAAGAGGAGGAGGAAGAGAGAGGA GGAGGGAGAGAGAGGAGGAGGGAGGAGGGGGGAGGAGGAGGAGGGAGGAG AGTAGGAGGGGGTGGGACGCAGTAGGAGGGGGGAGGAGGGGGAGGAGGAG GGTGAGGATGAGGAGTAGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0286 a0001c0001t0027g0286	1	320	0.0031	180	c.141 others(199): Show c.141+13111_141+13112insCTCCCCCCCCTCCCTACTCCTCATCC TCACCCTCCTCCTCCCCCTCCTCCCCCCTCCTACTGCGTCCCACCCCCTC CTACTCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCCTCCTCCTCTCTCTC CCTCCTCCTCTCTCTTCCTCCTCCTCTTCCCCCACCCCCCCCCCCCCCCC TCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RP2_chrX_46832043_46887358	46847788	A A	ATATATGT others(173): Show ATATATGTGTGTGTGTATATACACACATGTGTGTGTATATACACACATAT GTGTGTGTGTATATACACATGTGTGTGTATATACACATATATGTGTGTGT GTATATACACACATATGTGTGTGTGTGTATATACACACATATGTGTGTGT GTATATATACACACATATATGTGTATATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	274	0.0037	180	c.103 others(197): Show c.103-5687_103-5686insATATGTGTGTGTGTATATACACACATGT GTGTGTATATACACACATATGTGTGTGTGTATATACACATGTGTGTGTAT ATACACATATATGTGTGTGTGTATATACACACATATGTGTGTGTGTGTAT ATACACACATATGTGTGTGTGTATATATACACACATATATGTGTATATGT GT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA3_chr7_7631518_7723607	7679402	T T	TACATGTT others(173): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	308	0.0033	180	c.-75 others(199): Show c.-758+6427_-758+6428insTATCTATAAATTAAATATAAATATAT ATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAC ATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	220991	C C	CACAACAG others(173): Show CACAACAGCTCTGAGGTCTCCACTCACTGAGACAATAGACCCAAGCACAT CAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACAACAGCT CTGAGGGCTCCACTCACTGAGACAATAGACCCAAGTGCATCAGCTCTGAG GGCTCCAGTCACTGAGACAATAGACCCAAGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02148.hp2 HG03831.hp1 HG01361.hp2 HG02148.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0030 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0001g0030 a0001c0001t0013g0055 a0001c0001t0013g0107	3	133	0.0226	180	c.614 others(197): Show c.614-1256_614-1255insTCTTGGGTCTATTGTCTCAGTGACTGGA GCCCTCAGAGCTGATGCACTTGGGTCTATTGTCTCAGTGAGTGGAGCCCT CAGAGCTGTTGTGCTTGGGTCTATTGTCTCACCGAGTGGAGGCCTCAGAG CTGATGTGCTTGGGTCTATTGTCTCAGTGAGTGGAGACCTCAGAGCTGTT GT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	221353	C C	CATCAGCT others(173): Show CATCAGCTCTCAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACATCA GCTCTCAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAACAGCTCT GAGGCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGC CTCCACTCACTGAGACAACAGACCCAAGAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	133	0.0075	180	c.614 others(197): Show c.614-1618_614-1617insTTTCTTGGGTCTGTTGTCTCAGTGAGTG GAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGC CTCAGAGCTGTTGTTCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTGAG AGCTGATGTGCTTGGGTCTATTGTCTCACCGAGTGGAGGCCTGAGAGCTG AT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	316234	C C	CTCCACCT others(173): Show CTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACCTCCATTGACCTGT AGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCC ATTGACCTGCAGTCTCTGTACTCCATGTCCATTGACCTGTAGTCCCTGTG ACTCCACCTCCATTGAACTGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	133	0.0150	180	c.351 others(197): Show c.351+3185_351+3186insCACAGGGACTACAGTTCAATGGAGGTGG AGTCACAGGGACTACAGGTCAATGGACATGGAGTACAGAGACTGCAGGTC AATGGAGGTGGGGCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAG ACTACAGGTCAATGGAGGTGGGGCACAGGGACTACTGGTCAATGGAGGTG GA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340412	T T	TCAGGCCT others(173): Show TCAGGCCTCCCCACATCCACACTCACTGTCCCCCACCCAGGCCTCCCCAC ATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTG CCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGC CTCCCCACATCCACACTCACTGCCCCCCACC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	133	0.0075	180	c.-21 others(199): Show c.-212-6479_-212-6478insGGTGGGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCC CGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTG TGGATGTGGGGAGGCCTGGGTGGGGGACAGTGAGTGTGGATGTGGGGAGG CCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340446	A A	ACCCAGGC others(173): Show ACCCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCC ACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCAC TGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCACACTCACTGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(34): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG01167.hp2 HG01255.hp2 HG01943.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02886.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03831.hp1 HG03831.hp2 NA18522.hp2 NA18951.hp1 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA19005.hp1 NA19043.hp1 NA19056.hp1 NA19088.hp2 NA20905.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0006c0007 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0004t0001 a0006c0007t0007 a0008c0010t0003	a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0065 others(34): Show a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0031 a0001c0001t0002g0079 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0004g0008 a0001c0001t0004g0092 a0001c0001t0005g0017 a0001c0001t0006g0105 a0001c0001t0008g0113 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0010g0131 a0001c0001t0015g0041 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0017g0099 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0021g0077 a0001c0001t0024g0083 a0001c0001t0031g0067 a0001c0001t0033g0063 a0001c0002t0003g0090 a0001c0002t0029g0103 a0001c0003t0001g0068 a0001c0004t0001g0062 a0006c0007t0007g0117 a0008c0010t0003g0085	37	133	0.2782	180	c.-21 others(199): Show c.-212-6513_-212-6512insAGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCC TGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(173): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	196	0.0051	180	c.348 others(199): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743791	C C	CTACTAGC others(173): Show CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGA GCACTGTCCTGGTTACTAGCAGAGCCCTGGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0093 a0001c0020t0093	a0001c0020t0093g0034 a0001c0020t0093g0034	1	196	0.0051	180	c.655 others(199): Show c.655-10202_655-10201insTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACTGTCCTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCC CTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743919	A A	ACTAGCAC others(173): Show ACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03453.hp1 HG00735.hp2 HG03453.hp1	a0001 a0001	a0001c0031 a0001c0093 a0001c0031 a0001c0093	a0001c0031t0027 a0001c0093t0070 a0001c0031t0027 a0001c0093t0070	a0001c0031t0027g0173 a0001c0093t0070g0155 a0001c0031t0027g0173 a0001c0093t0070g0155	2	196	0.0102	180	c.655 others(199): Show c.655-10085_655-10084insCAGCCCTGGTTACTAGCACTATCCTG GCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGC CCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCA CTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTGCT AGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743947	C C	CCCTGGTT others(173): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACGAGCACTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0066 a0001c0018t0009g0066	1	196	0.0051	180	c.655 others(199): Show c.655-10058_655-10057insTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTC CTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743975	T T	TAGCACAG others(173): Show TAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACGAGCACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0098 a0001c0033t0098	a0001c0033t0098g0026 a0001c0033t0098g0026	1	196	0.0051	180	c.655 others(199): Show c.655-10030_655-10029insAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGA GCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744169	T T	TTGCTAGC others(173): Show TTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACTAGCAGAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0008 a0001c0023t0008	a0001c0023t0008g0134 a0001c0023t0008g0134	1	196	0.0051	180	c.655 others(197): Show c.655-9840_655-9839insGCTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGG CT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744205	T T	TTACTAGC others(173): Show TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAG AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTATCCTGGCTACTAGTACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	196	0.0051	180	c.655 others(197): Show c.655-9788_655-9787insTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTA GCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCT GG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744343	C C	CCCTGGTT others(173): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0011 a0001c0031t0011	a0001c0031t0011g0073 a0001c0031t0011g0073	1	196	0.0051	180	c.655 others(197): Show c.655-9662_655-9661insTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGCT others(173): Show CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA20805.hp2 HG03490.hp2 NA20805.hp2	a0001 a0001	a0001c0032 a0001c0085 a0001c0032 a0001c0085	a0001c0032t0097 a0001c0085t0003 a0001c0032t0097 a0001c0085t0003	a0001c0032t0097g0053 a0001c0085t0003g0162 a0001c0032t0097g0053 a0001c0085t0003g0162	2	196	0.0102	180	c.655 others(197): Show c.655-9500_655-9499insCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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