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
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(177): Show CCAACCCCGGGAACCGCCTGCCCCCTCCCACCAACCCGGGAACCGCCTCC CACTCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	422	0.0024	184	c.29 others(195): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCTCCCACCAAC CCGGGAACCGCCTCCCACTCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50274790	C C	CCCCCAGC others(177): Show CCCCCAGCTCCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTATCCCTCCCAGCCCCCT CCACCTCCCAGCACCACCCCCAGCCCCCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	302	0.0033	184	c.91 others(193): Show c.913_*914insAGGTGGAGGGGGCTGGGGGTGGTGCTGGGAGGTGGA GGGGGCTGGGAGGGATACTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCT GGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGAGCTGGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		188		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50274865	C C	CTCCCAGC others(177): Show CTCCCAGCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCT CCCCCAGTATCCCTCCCAGCCCCCTCCACCTCCCAGCACCACCCCCAGCC CCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTCCCCCAGCA TCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA18947.hp2 HG02293.hp2 NA18947.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0160 a0001c0005t0001g0189 a0001c0003t0001g0160 a0001c0005t0001g0189	2	302	0.0066	184	c.83 others(193): Show c.838_*839insAGGGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGAT GCTGGGGGAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGGGG GCTGGGGGTGGTGCTGGGAGGTGGAGGGGGCTGGGAGGGATACTGGGGGA GGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGGGCTGGGA	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		113		chr22	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(177): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0059 a0001c0008t0002g0059	1	210	0.0048	184	c.388 others(203): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACGGGGTCCAGGAGA ACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAG GATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGC AAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(177): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC TGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0067 a0001c0009t0067	a0001c0009t0067g0145 a0001c0009t0067g0145	1	210	0.0048	184	c.388 others(203): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCAGGAGA ACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAG GATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGC AAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855030	T T	TGCTCCAC others(177): Show TGCTCCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACAC CACCATCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACCA TCCTCCACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCT ACCACCCTCCACACACCACCATCCACACACACCAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	252	0.0040	184	c.114 others(203): Show c.114+21476_114+21477insGTGGTGTGTGTGGATGGTGGTGTGTG GAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTG TGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTG TGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTG TGTGGAGC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2122423	G G	GTAGTTAG others(177): Show GTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	286	0.0035	184	c.335 others(203): Show c.335-12836_335-12835insTTAGGGTCACGGCTGTAGTTAGGGTC ACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTG GTAGTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR5_chr22_44697204_44742681	44698346	T T	TTGTGTGA others(177): Show TTGTGTGAATGAGTCTGGAGCAGAGGTGGCTCTGGTGGCTTTGGGGATGT GTGAATGAGTCTGGAGCAGAGGTGGCTCTGGTGGCTTTGGGGATGTGTGA ATGAGTCTGGAGCAGAGGTGGCTCTGGTGGCTTTGGGGATGTGTGAATGA GTCTGGAGCAGAGGTGGCTCTGGTGGCTTTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03195.hp1 NA19043.hp1 HG01243.hp2 HG03195.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0003 a0003c0007t0004 a0001c0002t0003 a0003c0007t0004	a0001c0002t0003g0070 a0001c0002t0003g0071 a0003c0007t0004g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0003c0007t0004g0069	3	442	0.0068	184	c.-41 others(195): Show c.-4129_-4128insTGTGTGAATGAGTCTGGAGCAGAGGTGGCTCTGG TGGCTTTGGGGATGTGTGAATGAGTCTGGAGCAGAGGTGGCTCTGGTGGC TTTGGGGATGTGTGAATGAGTCTGGAGCAGAGGTGGCTCTGGTGGCTTTG GGGATGTGTGAATGAGTCTGGAGCAGAGGTGGCTCTGGTGGCTTTGGGGA	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		3857		chr22	TogoVar
PTPRH_chr19_55176247_55214501	55207686	T T	TGGGGGTC others(177): Show TGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGAC CTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGG GAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGG GGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02280.hp2 HG00639.hp2 HG02055.hp2 HG02280.hp2	a0003 a0030 a0003 a0030	a0003c0003 a0030c0046 a0003c0003 a0030c0046	a0003c0003t0003 a0030c0046t0002 a0003c0003t0003 a0030c0046t0002	a0003c0003t0003g0155 a0003c0003t0003g0159 a0030c0046t0002g0287 a0003c0003t0003g0155 a0003c0003t0003g0159 a0030c0046t0002g0287	3	378	0.0079	184	c.52- others(197): Show c.52-488_52-487insCAGCCCCTCCTCCCTCAGACCCAGGAATCCAG ACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTC CTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCA GAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCC CC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208947	G G	GGTCTGAG others(177): Show GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCTGAGGGAGG AGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTC TGGACTCCTGGGCCTGAAGGAGGAGGGACTGGGGGTCTGGACCCCTGAGT CTGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0317 a0001c0020t0001g0317	1	378	0.0027	184	c.51+ others(197): Show c.51+435_51+436insTCAGGAGTCCAGACCCCCAGCCCCTCTTCCCT CAGACTCAGGGGTCCAGACCCCCAGTCCCTCCTCCTTCAGGCCCAGGAGT CCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCC CCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAG AC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132398922	C C	CCCCCAGT others(177): Show CCCCCAGTCCTGAGGCTTGTCCTGGAAGGACCCCTGCCCCCTCCCTCATC TCCCCTGTGCCTGAGTCTGTCCGGCTGTTCTCCTCTCCCCCAGCCCCAGT CCTGAGGCTTGTCCTGGAAGGACCCCTGCCCCCTCCCTCATCTCCCCTGT GCCTGAGTCTGTCCGGCTGTTCTCCTCTCCCCCAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0243	1	374	0.0027	184	c.125 others(201): Show c.125+1696_125+1697insTGCCCCCTCCCTCATCTCCCCTGTGCCT GAGTCTGTCCGGCTGTTCTCCTCTCCCCCAGCCCCAGTCCTGAGGCTTGT CCTGGAAGGACCCCTGCCCCCTCCCTCATCTCCCCTGTGCCTGAGTCTGT CCGGCTGTTCTCCTCTCCCCCAGCCCCAGTCCTGAGGCTTGTCCTGGAAG GACCCC	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
RAD17_chr5_69364818_69419801	69377640	T T	TATATATA others(177): Show TATATATATATGCATATATATGTATACATATATATGCATATATATGCATA TATATATGTATACATATATATGCATATATATGCATATATATATATGTATA CATATATATGCATATATATATATGTATACATATATATGCATATATATATA TGTATACATATATATGCATATATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	359	0.0028	184	c.351 others(201): Show c.351+2937_351+2938insATGCATATATATGTATACATATATATGC ATATATATGCATATATATATGTATACATATATATGCATATATATGCATAT ATATATATGTATACATATATATGCATATATATATATGTATACATATATAT GCATATATATATATGTATACATATATATGCATATATATATATGTATACAT ATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALGAPA2_chr20_20384530_20717644	20458776	A A	ATATATAT others(177): Show ATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTAT ATATATATAGACCTATATATATATAGACCTATATATATATAGACCTATAT ATATATAGACCTATATATATAGACCTATATATATATAGACCTATATATAT AGACCTATATATATATAGACCTATATATATAGACC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18998.hp2 NA18942.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0044 a0001c0001t0001g0045	2	122	0.0164	184	c.549 others(205): Show c.5495+14052_5495+14053insGGTCTATATATATAGGTCTATATA TATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATA GGTCTATATATATATAGGTCTATATATATATAGGTCTATATATATATAGG TCTATATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTC TATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RASA3_chr13_113972783_114137623	114044231	C C	CCCCGCCT others(177): Show CCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCTCACTCGCTGAGCCCCCC CCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCC CCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCACTCGCTGA GCTCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	67	0.0149	184	c.278 others(201): Show c.278-3138_278-3137insCGGGGGGGCTCAGCGAGTGAGGCGGGGG GGGGAGCTCAGCGAGTGAGGCGGCGGGGGGAGCTCAGCGAGTGAGGCGGG GCGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGA GGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGCTCAGCGAGTGA GGCGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(177): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACTGGGGGGAAGGGA GACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGGCCGGG AAACTGGGGGTCCAGGAGACTCGGGGGGCTGGGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	184	c.173 others(201): Show c.173+3894_173+3895insCTCCCAGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCC CCGAGTCTCCCTTCCCCCCAGTCTCCCACCCCCCAGTCTCCCACCCCCCA GTCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAG TCTCCT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RBM34_chr1_235126183_235166250	235155826	T T	TATATATA others(177): Show TATATATATATATATATATATATATATATACATATATATATATATATATA TATATATATACATATATATATATATATATATATATACATATATATATATA TATATATATATATATATACATATATATATATATATATATATATATATATA CATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0319 a0001c0002t0002g0319	1	388	0.0026	184	c.366 others(199): Show c.366-715_366-714insGTATATATATATATATATATATATATATAT ATATGTATATATATATATATATATATATATATATATGTATATATATATAT ATATATATATATATATATGTATATATATATATATATATATATATGTATAT ATATATATATATATATATATATATGTATATATATATATATATATATATAT ATAT	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10			chr1	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(177): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	166	0.0060	184	c.908 others(201): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(177): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	300	0.0033	184	c.62- others(201): Show c.62-40020_62-40019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RFTN1_chr3_16310845_16518699	16404157	A A	ATTATATT others(177): Show ATTATATTTTATATATATTATATATTTTGTATATTATATGTAATATATAA TGTATAATATATAATATACATTTTATATATATTATATATAATATACATTT TATATATATTATATTTTATATATAATATATATAATATATATTTCATATAT AATATATAATATATATTTCATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01358.hp2 HG00642.hp1 HG01099.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0150	3	268	0.0112	184	c.441 others(201): Show c.441+5217_441+5218insAATATATATTATATATGAAATATATATT ATATATTATATATGAAATATATATTATATATATTATATATAAAATATAAT ATATATAAAATGTATATTATATATAATATATATAAAATGTATATTATATA TTATACATTATATATTACATATAATATACAAAATATATAATATATATAAA ATATAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFX3_chr9_3213297_3531001	3504958	T T	TATATATA others(177): Show TATATATAATATATCTTATATAATATATATAATATATAATATATCTTATA TAATATATAATATATAATATATCTTATATAATATATAATATATCTTATAT AATATATAATATATAATATATCTTATATAATATATAATATATCTTATATA ATATATAATATATAATATATCTTATATAATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02717.hp2 others(3): Show HG01099.hp2 HG02257.hp1 HG02717.hp2 HG02723.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0036 a0001c0001t0012 a0001c0001t0018 a0001c0001t0036	a0001c0001t0012g0081 a0001c0001t0012g0166 a0001c0001t0012g0167 others(3): Show a0001c0001t0012g0081 a0001c0001t0012g0166 a0001c0001t0012g0167 a0001c0001t0018g0079 a0001c0001t0018g0080 a0001c0001t0036g0078	6	196	0.0306	184	c.-9+ others(201): Show c.-9+20788_-9+20789insTATATATTATATAAGATATATTATATAT TATATATTATATAAGATATATTATATATTATATAAGATATATTATATATT ATATATTATATAAGATATATTATATATTATATAAGATATATTATATATTA TATATTATATAAGATATATTATATATTATATATATTATATAAGATATATT ATATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RIMBP2_chr12_130391133_130721299	130482796	A A	ATACACCC others(177): Show ATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCA GACCTCATCCAAATACACCCATTGTGTGTACATGTGTCAGATTCTGCAGG GGAGGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTC AGATTCTGCAGGGGAGGGGGCACACCTCATCCAAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG06807.hp2 NA18950.hp1 others(3): Show HG02735.hp2 HG06807.hp2 NA18950.hp1 NA19030.hp1 NA19064.hp1 NA20752.hp2	a0001 a0013 a0020 a0001 a0013 a0020	a0001c0003 a0001c0006 a0001c0045 others(2): Show a0001c0003 a0001c0006 a0001c0045 a0013c0053 a0020c0043	a0001c0003t0001 a0001c0006t0001 a0001c0045t0001 others(2): Show a0001c0003t0001 a0001c0006t0001 a0001c0045t0001 a0013c0053t0001 a0020c0043t0001	a0001c0003t0001g0010 a0001c0006t0001g0033 a0001c0006t0001g0081 others(3): Show a0001c0003t0001g0010 a0001c0006t0001g0033 a0001c0006t0001g0081 a0001c0045t0001g0067 a0013c0053t0001g0123 a0020c0043t0001g0120	6	180	0.0333	184	c.-3- others(199): Show c.-3-3781_-3-3780insATTGGATGAGGTGTGCCCCCTCCCCTGCAG AATCTGACACATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCC CCTCCCCTGCAGAATCTGACACATGTACACACAATGGGTGTATTTGGATG AGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGG TGTA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(177): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0008 a0008	a0008c0043 a0008c0043	a0008c0043t0006 a0008c0043t0006	a0008c0043t0006g0088 a0008c0043t0006g0088	1	448	0.0022	184	c.48 others(195): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RNF17_chr13_24759169_24884921	24881925	G G	GATACATC others(177): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	426	0.0024	184	c.21 others(195): Show c.2199_*2200insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2005		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(177): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0090 a0003c0006t0001g0090	1	426	0.0024	184	c.22 others(195): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2085		chr13	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(177): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGA GGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCC CACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCC GCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02145.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0038 a0001c0001t0002g0039	2	356	0.0056	184	c.-36 others(199): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGCGGGGC CCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTC CCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGC CGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCG CGGC	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(177): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGGGGGTGGGGCGGGGCCCGCCCG GCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGG GCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCC GCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	356	0.0028	184	c.-36 others(199): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGGGGGTG GGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGC GCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGC CCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCG CGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPA2_chr1_27886524_27919575	27916990	T T	TCCTTCCT others(177): Show TCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCT CCCTCCCTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02622.hp1 others(5): Show HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02886.hp1 HG02922.hp1 HG03041.hp2 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0065 a0001c0001t0001g0113 a0001c0001t0001g0116	8	364	0.0220	184	c.-25 others(195): Show c.-2548_-2547insGAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGGAG GGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGGAG GGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAGGGAGG GAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGAAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2416		chr1	TogoVar
RPH3AL_chr17_207389_357807	288087	T T	TCTCTCCA others(177): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGTCAGACCTCGCACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	133	0.0075	184	c.352 others(201): Show c.352-6234_352-6233insGGTGCGAGGTCTGACGGTGGAGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG AGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGT GGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288781	G G	GCACCCTC others(177): Show GCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGA CCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCA GACCTCACACCCTCTCTCTCCACCATCAGACCTCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	133	0.0075	184	c.352 others(201): Show c.352-6928_352-6927insTGAGGTCTGATGGTGGAGAGAGAGGGTG TGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAG AGGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCCTTC others(177): Show ATCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0027 a0009c0010t0027	a0009c0010t0027g0089 a0009c0010t0027g0089	1	366	0.0027	184	c.-15 others(195): Show c.-1536_-1535insTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665399	T T	TTCCTTTC others(177): Show TTCCTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTTCCTTTCCTTTTCCTT TCTTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCC TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0132 a0001c0022t0001g0132	1	196	0.0051	184	c.348 others(203): Show c.348+21590_348+21591insCCTTTCCTTTCCTTTTCCTTTCCTTT TCCTTTTCCTTTCCTTTTCCTTTCTTTTCCTTTCCTTTCCTTTCCTTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTT TCTTTCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(177): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0053 a0001c0037t0053	a0001c0037t0053g0138 a0001c0037t0053g0138	1	196	0.0051	184	c.348 others(203): Show c.348+21714_348+21715insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963449	C C	CTGCGGCC others(177): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	196	0.0051	184	c.393 others(201): Show c.3939+483_3939+484insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963587	G G	GTGCGGCC others(177): Show GTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCGCTCTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp1 NA18522.hp1 HG03195.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0067 a0001c0005t0083 a0001c0011t0029 a0001c0005t0067 a0001c0005t0083 a0001c0011t0029	a0001c0005t0067g0111 a0001c0005t0083g0017 a0001c0011t0029g0196 a0001c0005t0067g0111 a0001c0005t0083g0017 a0001c0011t0029g0196	3	196	0.0153	184	c.393 others(201): Show c.3939+580_3939+581insGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCGCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCGCTCTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TCTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963633	C C	CTGCGGCC others(177): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0078 a0001c0078	a0001c0078t0041 a0001c0078t0041	a0001c0078t0041g0100 a0001c0078t0041g0100	1	196	0.0051	184	c.393 others(201): Show c.3939+580_3939+581insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCC TGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	GTGCGGCC others(177): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 homoSapiens_chm13v2.hp1 HG03669.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0046 a0001c0001t0005g0042 a0001c0001t0005g0046	2	196	0.0102	184	c.393 others(201): Show c.3939+598_3939+599insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(177): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	196	0.0051	184	c.394 others(201): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(177): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0131 a0001c0002t0008g0131	1	196	0.0051	184	c.394 others(201): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(177): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19057.hp2 HG06807.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0019 a0001c0028t0019 a0001c0001t0019 a0001c0028t0019	a0001c0001t0019g0057 a0001c0028t0019g0024 a0001c0001t0019g0057 a0001c0028t0019g0024	2	196	0.0102	184	c.394 others(201): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133669075	C C	CCCTCACC others(177): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTC CCTCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTC CCTCTCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCT CTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0134 a0003c0002t0003g0134	1	262	0.0038	184	c.249 others(203): Show c.2495+1508_2495+1509insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGT GAGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGGG AGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGA GGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669075	C C	CCCTCACC others(177): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTC CTCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTCC CTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCT CTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0021 a0021	a0021c0050 a0021c0050	a0021c0050t0003 a0021c0050t0003	a0021c0050t0003g0180 a0021c0050t0003g0180	1	262	0.0038	184	c.249 others(203): Show c.2495+1508_2495+1509insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGT GAGGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGG GAGGGTGAGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGA GGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(177): Show CACACATATATATGTGTATATATATACGTATATATATATACGTATATATA CACACATATATATGTGTATATATATACGTATATATACACATATATATGTG TATATATATACGTATATATACACATATATATGTGTATATATACGTATATA TATACACATATATATGTGTATATATACGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02886.hp2 HG02257.hp1 HG02451.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	3	330	0.0091	184	c.-32 others(195): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ATATACGTATATATACACACATATATATGTGTATATATATACGTATATAT ACACATATATATGTGTATATATATACGTATATATACACATATATATGTGT ATATATACGTATATATATACACATATATATGTGTATATATACGTATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SCGB2A2_chr11_62265158_62278160	62277909	C C	CCTCTCCC others(177): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTGTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	390	0.0026	184	c.49 others(195): Show c.4914_*4915insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTGTCTCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4750		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277958	C C	CTCTCCCT others(177): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTCCGCTCTCCGTCTC GCTCTCCGCTCTCCGTCTCGCTCTCGCTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	390	0.0026	184	c.49 others(195): Show c.4963_*4964insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTC TCCGCTCTCCGTCTCGCTCTCCGCTCTCCGTCTCGCTCTCGCTCTCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4799		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(177): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0075 a0002c0002t0013g0075	1	290	0.0035	184	c.464 others(197): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(177): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	290	0.0035	184	c.464 others(197): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288246	T T	TCTGCTCC others(177): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	290	0.0035	184	c.166 others(201): Show c.1662+231_1662+232insCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(177): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0114 a0002c0003t0004g0114	1	290	0.0035	184	c.166 others(201): Show c.1662+777_1662+778insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTC	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(177): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0263 a0001c0019t0001g0263	1	290	0.0035	184	c.166 others(203): Show c.1662+1040_1662+1041insTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289281	T T	TCCCGTGT others(177): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0285 a0008c0007t0004g0285	1	290	0.0035	184	c.166 others(201): Show c.1663-982_1663-981insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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