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
RORC_chr1_151801071_151836802	151830659	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG01261.hp1 others(2): Show HG00639.hp2 HG01175.hp2 HG01261.hp1 HG01928.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0188 a0001c0001t0001g0281 a0001c0001t0002g0283 others(2): Show a0001c0001t0001g0188 a0001c0001t0001g0281 a0001c0001t0002g0283 a0001c0001t0003g0282 a0001c0001t0003g0284	5	430	0.0116	20	c.40+ others(35): Show c.40+1065_40+1066insATGTGTGTGTGTGTGTGTGT	RORC	ENSG00000143365.20	transcript	ENST00000318247.7	protein_coding	1/10			chr1	TogoVar
RP2_chrX_46832043_46887358	46847704	A A	ATATACAC others(13): Show ATATACACACATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG02922.hp1 HG02055.hp1 HG02809.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062	3	274	0.0110	20	c.103 others(37): Show c.103-5768_103-5767insCACACATATGTGTGTGTATA	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RP2_chrX_46832043_46887358	46847722	G G	GTGTGTGT others(13): Show GTGTGTGTATATACACACATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(2): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02897.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0166 a0001c0001t0001g0167 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168	5	274	0.0183	20	c.103 others(37): Show c.103-5747_103-5746insATATACACACATATGTGTGT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RP2_chrX_46832043_46887358	46847722	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATACACACA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	274	0.0037	20	c.103 others(37): Show c.103-5752_103-5733dupGTGTGTGTATATACACACAT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RP2_chrX_46832043_46887358	46847743	T T	TGTGTGTG others(13): Show TGTGTGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	274	0.0037	20	c.103 others(37): Show c.103-5733_103-5732insGTGTGTGTGTATATACACAC	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4			chrX	TogoVar
RP2_chrX_46832043_46887358	46847745	T T	TGTGTGTG others(13): Show TGTGTGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	274	0.0037	20	c.103 others(37): Show c.103-5730_103-5711dupGTGTGTGTGTATATACACAC	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RP2_chrX_46832043_46887358	46847767	T T	TATGTGTG others(13): Show TATGTGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	274	0.0037	20	c.103 others(37): Show c.103-5709_103-5708insATGTGTGTGTATATACACAC	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4			chrX	TogoVar
RP2_chrX_46832043_46887358	46847787	C C	CGTGTGTG others(13): Show CGTGTGTGTATATACACACAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19064.hp2 NA19091.hp1 NA18747.hp1 NA19064.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178	3	274	0.0110	20	c.103 others(37): Show c.103-5689_103-5688insGTGTGTGTATATACACACAT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4			chrX	TogoVar
RP9_chr7_33089797_33114404	33109683	G G	GGGAGCCT others(13): Show GGGAGCCTGGGTGAGCTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00673.hp2 others(53): Show HG00423.hp1 HG00438.hp2 HG00673.hp2 HG01255.hp2 HG01981.hp2 HG02074.hp1 HG02165.hp1 HG02293.hp1 HG02886.hp2 HG02970.hp2 HG03225.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19067.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0002g0029 a0002c0002t0001g0049	56	444	0.1261	20	c.-31 others(29): Show c.-312_-311insGGGAAGCTCACCCAGGCTCC	RP9	ENSG00000164610.10	transcript	ENST00000297157.8	protein_coding		280		chr7	TogoVar
RPA1_chr17_1825005_1905082	1863184	A A	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0373 a0001c0003t0001g0373	1	402	0.0025	20	c.362 others(37): Show c.362-9226_362-9207dupATTTTATTTTATTTTATTTT	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA1_chr17_1825005_1905082	1874032	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA20300.hp2 HG02257.hp2 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0015 a0001c0007t0003 a0001c0007t0015	a0001c0007t0003g0011 a0001c0007t0015g0051 a0001c0007t0003g0011 a0001c0007t0015g0051	2	402	0.0050	20	c.454 others(37): Show c.454+1507_454+1508insTATATATATATATACACACA	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA1_chr17_1825005_1905082	1895659	G G	GTATTTAT others(13): Show GTATTTATTTATTTATATATT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19083.hp2 NA18966.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0170 a0001c0004t0010g0171 a0001c0004t0010g0170 a0001c0004t0010g0171	2	402	0.0050	20	c.174 others(37): Show c.1746+579_1746+580insATATTTATTTATTTATTTAT	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7693295	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02559.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0060 a0001c0001t0008g0200 a0001c0001t0005g0060 a0001c0001t0008g0200	2	308	0.0065	20	c.-10 others(41): Show c.-1027-5987_-1027-5968dupGATAGATAGATAGATAGATA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	2/7			chr7	TogoVar
RPAP1_chr15_41512176_41549257	41516829	A A	AATAGATA others(13): Show AATAGATAGATAGATAGATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0297 a0003c0009t0002g0297	1	414	0.0024	20	c.71 others(29): Show c.712_*713insCTATCTATCTATCTATCTAT	RPAP1	ENSG00000103932.12	transcript	ENST00000304330.9	protein_coding		346		chr15	TogoVar
RPAP1_chr15_41512176_41549257	41533010	C C	CATATGAG others(13): Show CATATGAGACCAGGTAGATCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(217): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0013 a0014 a0015 a0016 a0018	a0001c0002 a0001c0004 a0001c0011 others(17): Show a0001c0002 a0001c0004 a0001c0011 a0001c0017 a0001c0024 a0001c0030 a0001c0032 a0001c0033 a0002c0028 a0003c0003 a0003c0009 a0004c0005 a0005c0006 a0006c0007 a0010c0015 a0013c0026 a0014c0025 a0015c0031 a0016c0035 a0018c0036	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(23): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0004t0001 a0001c0011t0005 a0001c0017t0006 a0001c0024t0001 a0001c0030t0001 a0001c0032t0001 a0001c0033t0001 a0002c0028t0001 a0003c0003t0002 a0003c0003t0009 a0003c0003t0010 a0003c0009t0002 a0004c0005t0001 a0004c0005t0002 a0005c0006t0001 a0005c0006t0002 a0006c0007t0001 a0010c0015t0002 a0013c0026t0002 a0014c0025t0002 a0015c0031t0001 a0016c0035t0001 a0018c0036t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 others(156): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0121 a0001c0002t0002g0060 a0001c0002t0002g0085 a0001c0002t0008g0067 a0001c0004t0001g0110 a0001c0004t0001g0164 a0001c0011t0005g0039 a0001c0011t0005g0047 a0001c0011t0005g0078 a0001c0011t0005g0079 a0001c0011t0005g0080 a0001c0017t0006g0020 a0001c0024t0001g0055 a0001c0030t0001g0053 a0001c0032t0001g0073 a0001c0033t0001g0245 a0002c0028t0001g0307 a0003c0003t0002g0001 a0003c0003t0002g0006 a0003c0003t0002g0017 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0037 a0003c0003t0002g0063 a0003c0003t0002g0288 a0003c0003t0002g0289 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0296 a0003c0003t0002g0298 a0003c0003t0002g0299 a0003c0003t0002g0301 a0003c0003t0002g0302 a0003c0003t0002g0304 a0003c0003t0002g0306 a0003c0003t0002g0308 a0003c0003t0002g0310 a0003c0003t0002g0311 a0003c0003t0002g0312 a0003c0003t0002g0313 a0003c0003t0002g0314 a0003c0003t0002g0316 a0003c0003t0002g0317 a0003c0003t0002g0318 a0003c0003t0002g0319 a0003c0003t0002g0320 a0003c0003t0002g0321 a0003c0003t0002g0322 a0003c0003t0002g0323 a0003c0003t0002g0324 a0003c0003t0009g0300 a0003c0003t0010g0325 a0003c0009t0002g0010 a0003c0009t0002g0290 a0003c0009t0002g0295 a0003c0009t0002g0297 a0003c0009t0002g0303 a0003c0009t0002g0305 a0003c0009t0002g0309 a0004c0005t0001g0013 a0004c0005t0001g0024 a0004c0005t0001g0038 a0004c0005t0001g0092 a0004c0005t0001g0099 a0004c0005t0001g0101 a0004c0005t0001g0122 a0004c0005t0001g0136 a0004c0005t0001g0137 a0004c0005t0001g0142 a0004c0005t0001g0146 a0004c0005t0001g0152 a0004c0005t0001g0155 a0004c0005t0001g0156 a0004c0005t0001g0328 a0004c0005t0001g0329 a0004c0005t0001g0330 a0004c0005t0001g0332 a0004c0005t0002g0139 a0005c0006t0001g0148 a0005c0006t0002g0026 a0005c0006t0002g0027 a0005c0006t0002g0113 a0005c0006t0002g0114 a0005c0006t0002g0143 a0005c0006t0002g0145 a0005c0006t0002g0147 a0005c0006t0002g0149 a0005c0006t0002g0150 a0005c0006t0002g0151 a0005c0006t0002g0153 a0006c0007t0001g0003 a0006c0007t0001g0025 a0006c0007t0001g0102 a0006c0007t0001g0112 a0006c0007t0001g0138 a0006c0007t0001g0140 a0006c0007t0001g0141 a0010c0015t0002g0097 a0010c0015t0002g0098 a0010c0015t0002g0100 a0013c0026t0002g0315 a0014c0025t0002g0294 a0015c0031t0001g0064 a0016c0035t0001g0154 a0018c0036t0001g0331	220	414	0.5314	20	c.763 others(37): Show c.763+1684_763+1703dupAGATCTACCTGGTCTCATAT	RPAP1	ENSG00000103932.12	transcript	ENST00000304330.9	protein_coding	6/24			chr15	TogoVar
RPAP3_chr12_47656249_47711030	47686545	T T	TACACATA others(13): Show TACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	414	0.0024	20	c.992 others(35): Show c.992+234_992+235insGTGTGTGTGTGTGTATGTGT	RPAP3	ENSG00000005175.10	transcript	ENST00000005386.8	protein_coding	9/16			chr12	TogoVar
RPE65_chr1_68423822_68454954	68452696	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01258.hp2 HG02698.hp2 others(5): Show HG01243.hp2 HG01258.hp2 HG02698.hp2 HG03669.hp1 HG03831.hp2 HG04199.hp2 HG04228.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0003g0009 others(2): Show a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0066	8	456	0.0175	20	c.-27 others(31): Show c.-2792_-2791insACACACACACACACACACAC	RPE65	ENSG00000116745.7	transcript	ENST00000262340.6	protein_coding		2743		chr1	TogoVar
RPE65_chr1_68423822_68454954	68454576	T T	TCACGGAG others(13): Show TCACGGAGGTTGGCTAGGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	456	0.0022	20	c.-46 others(31): Show c.-4672_-4671insCTACCTAGCCAACCTCCGTG	RPE65	ENSG00000116745.7	transcript	ENST00000262340.6	protein_coding		4623		chr1	TogoVar
RPEL1_chr10_103240887_103253016	103249059	G G	GGGGGGAA others(13): Show GGGGGGAAAACCCCTAAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	375	0.0027	20	c.23 others(31): Show c.2376_*2377insGGGGGAAAACCCCTAAATGT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		1044		chr10	TogoVar
RPF2_chr6_110977038_111033263	110994727	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 NA19084.hp2 HG03098.hp1 HG03486.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0231 a0001c0001t0002g0120 a0001c0001t0003g0119 a0001c0001t0001g0231 a0001c0001t0002g0120 a0001c0001t0003g0119	3	360	0.0083	20	c.235 others(37): Show c.235-2448_235-2447insTATATATATATATATATATA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	360	0.0028	20	c.235 others(37): Show c.235-2448_235-2447insTATATATATATATATATACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPF2_chr6_110977038_111033263	111008898	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02922.hp2 HG03098.hp1 others(2): Show HG02738.hp2 HG02922.hp2 HG03098.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0002g0120 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0002g0120 a0001c0001t0003g0118 a0001c0001t0003g0119	5	360	0.0139	20	c.493 others(35): Show c.493+779_493+780insTTTTTTTTTTTTTTTTTTTT	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp1 HG02129.hp2 others(8): Show HG02027.hp1 HG02083.hp1 HG02129.hp2 NA18947.hp1 NA18950.hp1 NA18970.hp1 NA18978.hp1 NA18980.hp1 NA19078.hp2 NA19082.hp2 NA19090.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0012 a0002c0002 a0008c0012	a0002c0002t0001 a0002c0002t0016 a0002c0002t0017 others(1): Show a0002c0002t0001 a0002c0002t0016 a0002c0002t0017 a0008c0012t0001	a0002c0002t0001g0010 a0002c0002t0001g0168 a0002c0002t0001g0169 others(8): Show a0002c0002t0001g0010 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0016g0185 a0002c0002t0017g0200 a0008c0012t0001g0073	11	364	0.0302	20	c.361 others(39): Show c.3616+1932_3616+1951dupTTTTTTTTTTTTTTTTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275482	G G	GGGGGGGG others(13): Show GGGGGGGGGGGGGGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0030 a0002c0018t0001g0030	1	332	0.0030	20	c.-47 others(31): Show c.-4716_-4715insGGGGGGGGGGGGGGGGGGGA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4600		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01109.hp2 others(6): Show HG00423.hp1 HG00639.hp2 HG01109.hp2 HG01361.hp1 HG02027.hp1 HG02074.hp1 HG02109.hp1 HG03492.hp2 NA19055.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0010	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0004c0015 a0009c0017 a0010c0014	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0004c0015t0001 a0009c0017t0001 a0010c0014t0001	a0001c0001t0001g0231 a0001c0001t0001g0275 a0001c0001t0001g0293 others(6): Show a0001c0001t0001g0231 a0001c0001t0001g0275 a0001c0001t0001g0293 a0001c0004t0001g0214 a0002c0002t0001g0089 a0004c0015t0001g0218 a0009c0017t0001g0320 a0009c0017t0001g0323 a0010c0014t0001g0276	9	332	0.0271	20	c.-42 others(31): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297834	A A	ATTCTTTC others(13): Show ATTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01071.hp1 HG01074.hp1 others(28): Show HG00544.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01256.hp2 HG02055.hp2 HG02074.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG03017.hp2 HG03654.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18960.hp1 NA18969.hp1 NA18970.hp2 NA19000.hp1 NA19043.hp2 NA19064.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0010 a0027	a0001c0001 a0001c0004 a0003c0003 others(8): Show a0001c0001 a0001c0004 a0003c0003 a0003c0012 a0005c0005 a0006c0006 a0007c0008 a0007c0013 a0008c0009 a0010c0014 a0027c0041	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(9): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0003c0003t0005 a0003c0012t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0007c0013t0001 a0008c0009t0001 a0010c0014t0001 a0027c0041t0001	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0152 others(28): Show a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0304 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0219 a0001c0004t0001g0221 a0001c0004t0001g0242 a0001c0004t0001g0258 a0003c0003t0001g0186 a0003c0003t0005g0015 a0003c0012t0001g0019 a0005c0005t0001g0044 a0005c0005t0001g0120 a0006c0006t0001g0115 a0007c0008t0001g0100 a0007c0013t0001g0154 a0008c0009t0001g0253 a0010c0014t0001g0175 a0027c0041t0001g0330	31	332	0.0934	20	c.218 others(37): Show c.218+3052_218+3071dupCTTTCTTTCTTTCTTTCTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297834	A A	ATTTTTTC others(13): Show ATTTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00733.hp1 others(24): Show HG00408.hp1 HG00423.hp2 HG00733.hp1 HG01167.hp2 HG01256.hp1 HG01257.hp2 HG01496.hp1 HG03098.hp2 HG03492.hp1 HG03831.hp1 HG03942.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18987.hp1 NA18991.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp1 NA19056.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0024	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0024c0032	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0024c0032t0002	a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0102 others(24): Show a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0187 a0002c0002t0001g0023 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0179 a0003c0003t0001g0050 a0003c0003t0001g0084 a0003c0003t0001g0097 a0003c0003t0001g0098 a0024c0032t0002g0183	27	332	0.0813	20	c.218 others(37): Show c.218+3027_218+3028insTTTTCTTTCTTTCTTTCTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21304389	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	332	0.0030	20	c.800 others(35): Show c.800+884_800+903dupGAAAGAAAGAAAGAAAGAAA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21304420	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18959.hp2 NA18990.hp1 NA18957.hp2 NA18959.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0283 a0001c0001t0001g0319 a0001c0001t0001g0243 a0001c0001t0001g0283 a0001c0001t0001g0319	3	332	0.0090	20	c.800 others(35): Show c.800+896_800+897insGAAGAAAGAAAGAAAGAAAG	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38332504	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00642.hp1 others(34): Show HG00323.hp1 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01192.hp1 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG02004.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG02922.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 NA18747.hp1 NA18947.hp2 NA18959.hp1 NA18988.hp1 NA19003.hp2 NA19072.hp1 NA19083.hp1 NA20300.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0016 a0026	a0001c0001 a0001c0005 a0002c0002 others(9): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0003c0004 a0004c0006 a0005c0007 a0006c0008 a0007c0009 a0011c0016 a0016c0018 a0026c0031	a0001c0001t0004 a0001c0005t0002 a0002c0002t0001 others(10): Show a0001c0001t0004 a0001c0005t0002 a0002c0002t0001 a0002c0003t0001 a0003c0004t0003 a0004c0006t0002 a0005c0007t0004 a0006c0008t0003 a0007c0009t0001 a0007c0009t0006 a0011c0016t0001 a0016c0018t0003 a0026c0031t0002	a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0189 others(27): Show a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0189 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0005t0002g0002 a0002c0002t0001g0004 a0002c0002t0001g0033 a0002c0002t0001g0116 a0002c0002t0001g0147 a0002c0002t0001g0164 a0002c0003t0001g0005 a0002c0003t0001g0032 a0003c0004t0003g0065 a0003c0004t0003g0097 a0004c0006t0002g0173 a0005c0007t0004g0109 a0005c0007t0004g0202 a0006c0008t0003g0007 a0007c0009t0001g0114 a0007c0009t0001g0129 a0007c0009t0006g0028 a0011c0016t0001g0030 a0016c0018t0003g0104 a0026c0031t0002g0208	37	302	0.1225	20	c.-51 others(31): Show c.-5138_-5137insTATATATATATATATATATA	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding		4996		chrX	TogoVar
RPH3AL_chr17_207389_357807	324702	G G	GCTAGCTA others(13): Show GCTAGCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	133	0.0075	20	c.77+ others(35): Show c.77+2764_77+2765insATAGATAGATAGATAGCTAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	324707	G G	GTATCTAT others(13): Show GTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02895.hp2 others(1): Show HG02559.hp2 HG02886.hp2 HG02895.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 a0001c0003t0030	a0001c0001t0001g0104 a0001c0001t0017g0070 a0001c0003t0001g0068 others(1): Show a0001c0001t0001g0104 a0001c0001t0017g0070 a0001c0003t0001g0068 a0001c0003t0030g0122	4	133	0.0301	20	c.77+ others(35): Show c.77+2759_77+2760insGATAGATAGATAGATAGATA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791864	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0117 a0001c0002t0048g0117	1	266	0.0038	20	c.-28 others(29): Show c.-286_-285insAGAGAGAGAGAGAGAGAGAG	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36452	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 HG01256.hp1 HG02080.hp1 others(6): Show HG00544.hp1 HG01256.hp1 HG02080.hp1 HG02083.hp2 HG03225.hp2 NA18963.hp1 NA19003.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0100 a0001c0002t0021 others(3): Show a0001c0001t0023 a0001c0001t0100 a0001c0002t0021 a0001c0002t0022 a0001c0002t0099 a0001c0002t0101	a0001c0001t0023g0070 a0001c0001t0023g0118 a0001c0001t0100g0217 others(6): Show a0001c0001t0023g0070 a0001c0001t0023g0118 a0001c0001t0100g0217 a0001c0002t0021g0001 a0001c0002t0021g0115 a0001c0002t0022g0120 a0001c0002t0022g0161 a0001c0002t0099g0042 a0001c0002t0101g0068	9	266	0.0338	20	c.-26 others(29): Show c.-266_-247dupGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112841173	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp2 others(36): Show HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02602.hp2 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03225.hp1 HG03669.hp2 NA18747.hp2 NA18944.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18973.hp2 NA18974.hp2 NA18992.hp1 NA18993.hp1 NA18997.hp1 NA19063.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0045 a0001c0001t0046 a0001c0001t0068 a0001c0001t0076 a0001c0001t0077 a0001c0001t0086 a0001c0001t0097 a0001c0001t0098 a0001c0001t0110 a0001c0001t0149 a0001c0001t0159 a0001c0001t0162 a0001c0001t0164 a0001c0001t0169 a0001c0001t0171 a0001c0001t0175 a0001c0001t0180 a0001c0001t0181 a0001c0001t0185 a0001c0001t0191 a0001c0001t0203 a0001c0002t0029 a0001c0002t0193 a0001c0003t0157 a0001c0015t0001	a0001c0001t0001g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 others(36): Show a0001c0001t0001g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0003g0172 a0001c0001t0006g0224 a0001c0001t0006g0245 a0001c0001t0006g0250 a0001c0001t0007g0071 a0001c0001t0017g0228 a0001c0001t0023g0070 a0001c0001t0028g0004 a0001c0001t0033g0064 a0001c0001t0035g0110 a0001c0001t0038g0016 a0001c0001t0045g0201 a0001c0001t0046g0139 a0001c0001t0068g0163 a0001c0001t0076g0223 a0001c0001t0077g0220 a0001c0001t0086g0239 a0001c0001t0097g0067 a0001c0001t0098g0122 a0001c0001t0110g0004 a0001c0001t0149g0130 a0001c0001t0159g0026 a0001c0001t0162g0193 a0001c0001t0164g0129 a0001c0001t0169g0106 a0001c0001t0171g0157 a0001c0001t0175g0149 a0001c0001t0180g0127 a0001c0001t0181g0136 a0001c0001t0185g0181 a0001c0001t0191g0019 a0001c0001t0203g0197 a0001c0002t0029g0049 a0001c0002t0193g0168 a0001c0003t0157g0006 a0001c0015t0001g0237	39	266	0.1466	20	c.83+ others(35): Show c.83+4673_83+4692dupAAAAAAAAAAAAAAAAAAAA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877419	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp2 HG01192.hp1 HG01496.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0116 a0008c0017t0165 a0001c0001t0116 a0008c0017t0165	a0001c0001t0116g0032 a0008c0017t0165g0030 a0001c0001t0116g0032 a0008c0017t0165g0030	2	266	0.0075	20	c.117 others(37): Show c.1171+574_1171+593dupACACACACACACACACACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396693	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	276	0.0036	20	c.-17 others(31): Show c.-1725_-1724insATATATATATATATATATAT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1683		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(13): Show ATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	276	0.0036	20	c.-17 others(31): Show c.-1706_-1705insTATATATATATATATATATT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0008 a0002c0002t0009g0008	1	276	0.0036	20	c.-17 others(31): Show c.-1706_-1705insTATATATATATATTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(88): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02280.hp2 HG02559.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03195.hp1 HG03492.hp1 HG03669.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0004g0002 a0001c0001t0006g0044 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0010g0001 a0001c0003t0001g0004 a0001c0003t0001g0006 a0002c0006t0001g0001	91	338	0.2692	20	c.20 others(31): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL13_chr16_89555682_89569542	89564720	A A	AGGGCCTG others(13): Show AGGGCCTGAAGATTTCTGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	20	c.16 others(31): Show c.1678_*1679insGGGCCTGAAGATTTCTGGTG	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		179		chr16	TogoVar
RPL13_chr16_89555682_89569542	89565283	G G	GTGGGCTG others(13): Show GTGGGCTGGGCTGGGCTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG02132.hp2 others(19): Show HG00323.hp2 HG00621.hp1 HG02132.hp2 HG02300.hp1 HG02572.hp1 HG02735.hp2 HG03834.hp1 HG04184.hp1 NA18940.hp2 NA18942.hp2 NA18960.hp1 NA18972.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA19004.hp1 NA19077.hp2 NA19078.hp2 NA19085.hp2 NA19088.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0021	a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 others(2): Show a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0003g0002 a0001c0002t0021g0004	22	386	0.0570	20	c.22 others(31): Show c.2241_*2242insTGGGCTGGGCTGGGCTGGGC	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		742		chr16	TogoVar
RPL18_chr19_48610331_48624178	48616643	C C	CCAGCACA others(13): Show CCAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01167.hp1 others(54): Show HG00438.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01433.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02080.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02559.hp2 HG02809.hp2 HG02970.hp1 HG03516.hp2 HG03688.hp1 HG03927.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19067.hp1 NA19074.hp1 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0038	57	382	0.1492	20	c.297 others(33): Show c.297+63_297+82dupTGCTGTGCTGTGCTGTGCTG	RPL18	ENSG00000063177.13	transcript	ENST00000549920.6	protein_coding	4/6			chr19	TogoVar
RPL21_chr13_27246558_27261568	27254392	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	424	0.0024	20	c.129 others(35): Show c.129+130_129+131insTTTTTTTTTTTTTTTTTTTT	RPL21	ENSG00000122026.11	transcript	ENST00000311549.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
RPL22_chr1_6180020_6204595	6189167	G G	GCTCCACA others(13): Show GCTCCACACCAACAAAGCAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01123.hp1 others(58): Show HG00609.hp2 HG00621.hp1 HG01123.hp1 HG01257.hp2 HG01884.hp1 HG01884.hp2 HG02080.hp1 HG02083.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG04199.hp2 HG04228.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18960.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA19002.hp2 NA19003.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19083.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0044 others(35): Show a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0064 a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0205 a0001c0001t0003g0005 a0001c0001t0003g0092 a0001c0001t0003g0096 a0001c0001t0003g0158 a0001c0001t0005g0010 a0001c0001t0005g0051	61	372	0.1640	20	c.243 others(37): Show c.243-2371_243-2352dupATTGCTTTGTTGGTGTGGAG	RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding	3/3			chr1	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	418	0.0024	20	c.72 others(31): Show c.7260_*7261insTAGATAGATAGACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTGTCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 NA18994.hp1 NA19060.hp2 others(1): Show HG01081.hp1 NA18994.hp1 NA19060.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0002g0016 a0001c0001t0005g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0016 a0001c0001t0005g0005 a0001c0001t0011g0014	4	418	0.0096	20	c.72 others(31): Show c.7260_*7261insTAGATAGACAGACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTGTCTGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00741.hp2 others(13): Show HG00323.hp2 HG00408.hp2 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01517.hp2 HG02135.hp2 HG02735.hp2 HG03654.hp2 NA18612.hp1 NA18971.hp1 NA18993.hp1 NA19002.hp2 NA19065.hp1 NA19080.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0005g0005 a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0005g0005	16	418	0.0383	20	c.72 others(31): Show c.7260_*7261insTAGACAGACAGACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03471.hp1 NA18906.hp1 HG03225.hp2 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	3	418	0.0072	20	c.50 others(31): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02683.hp1 HG02145.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0167 a0001c0001t0001g0100 a0001c0001t0001g0167	2	444	0.0045	20	c.192 others(37): Show c.192+1022_192+1041dupTTTTTTTTTTTTTTTTTTTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar

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