Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02809.hp1 NA18989.hp1 others(1): Show HG01433.hp2 HG02809.hp1 NA18989.hp1 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0014 a0002c0002t0017 a0002c0002t0003 a0002c0002t0014 a0002c0002t0017	a0002c0002t0003g0013 a0002c0002t0014g0052 a0002c0002t0014g0066 others(1): Show a0002c0002t0003g0013 a0002c0002t0014g0052 a0002c0002t0014g0066 a0002c0002t0017g0224	4	320	0.0125	21	c.141 others(40): Show c.141+26383_141+26384insAAAAATATATATATATATATA		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03669.hp1 NA18747.hp1 others(2): Show HG02647.hp2 HG03669.hp1 NA18747.hp1 NA18986.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0002c0002t0003 a0001c0001t0003 a0001c0001t0007 a0002c0002t0003	a0001c0001t0003g0040 a0001c0001t0007g0217 a0002c0002t0003g0095 others(2): Show a0001c0001t0003g0040 a0001c0001t0007g0217 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097	5	320	0.0156	21	c.141 others(40): Show c.141+26383_141+26384insAAAAAAATATATATATATATA		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19079.hp1 NA21309.hp2 HG03831.hp2 NA19079.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0002c0002t0044 a0001c0001t0002 a0002c0002t0003 a0002c0002t0044	a0001c0001t0002g0106 a0002c0002t0003g0036 a0002c0002t0044g0035 a0001c0001t0002g0106 a0002c0002t0003g0036 a0002c0002t0044g0035	3	320	0.0094	21	c.141 others(40): Show c.141+26383_141+26384insAAAAAAAAATATATATATATA		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROPN1_chr3_123964015_123997124	123985992	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18522.hp2 HG02698.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0176 a0002c0005t0001g0177 a0001c0002t0001g0176 a0002c0005t0001g0177	2	416	0.0048	21	c.-12 others(38): Show c.-12-5520_-12-5500dupTTTTTTTTTTTTTTTTTTTTT		ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5						chr3	TogoVar
RORA_chr15_60483284_61234302	60590200	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0086 a0001c0001t0046g0086	1	118	0.0085	21	c.197 others(40): Show c.197-58350_197-58349insGAGAGAGAGAGAGAGAGAGAG		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RORA_chr15_60483284_61234302	60611559	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02965.hp1 NA18906.hp1 others(1): Show HG02486.hp2 HG02965.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0009 a0001c0001t0010 a0001c0003t0015 others(1): Show a0001c0001t0009 a0001c0001t0010 a0001c0003t0015 a0001c0006t0004	a0001c0001t0009g0079 a0001c0001t0010g0081 a0001c0003t0015g0075 others(1): Show a0001c0001t0009g0079 a0001c0001t0010g0081 a0001c0003t0015g0075 a0001c0006t0004g0078	4	118	0.0339	21	c.196 others(40): Show c.196+67077_196+67097dupTTTTTTTTTTTTTTTTTTTTT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RORA_chr15_60483284_61234302	60763065	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0080 a0001c0002t0003g0080	1	118	0.0085	21	c.167 others(40): Show c.167-84400_167-84380dupAAAAAAAAAAAAAAAAAAAAA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RORA_chr15_60483284_61234302	61059988	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG03669.hp2 HG00639.hp2 HG01123.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0011 a0001c0003t0014 a0001c0004t0041 a0001c0001t0011 a0001c0003t0014 a0001c0004t0041	a0001c0001t0011g0066 a0001c0003t0014g0114 a0001c0004t0041g0063 a0001c0001t0011g0066 a0001c0003t0014g0114 a0001c0004t0041g0063	3	118	0.0254	21	c.166 others(42): Show c.166+169044_166+169064dupTTCTTCTTCTTCTTCTTCTTC		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RP9_chr7_33089797_33114404	33109417	C C	CCGGCGGC others(14): Show CCGGCGGCGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02293.hp1 HG01981.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	444	0.0045	21	c.-46 others(28): Show c.-46_-45insCCGCCGCCGCCGCCGCCGCCG		RP9	ENSG00000164610.10	transcript	ENST00000297157.8	protein_coding					14		chr7	TogoVar
RPA1_chr17_1825005_1905082	1843598	C C	CATTATTA others(14): Show CATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	402	0.0025	21	c.85- others(34): Show c.85-303_85-283dupATTATTATTATTATTATTATT		RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7673310	T T	TAGCAGCA others(14): Show TAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	308	0.0033	21	c.-75 others(42): Show c.-758+12499_-758+12519dupGCTGCTGCTGCTGCTGCTGCT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18944.hp1 NA19058.hp2 NA18941.hp1 NA18944.hp1 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0186 a0002c0002t0001g0199 a0002c0002t0001g0170 a0002c0002t0001g0186 a0002c0002t0001g0199	3	364	0.0082	21	c.361 others(40): Show c.3616+1931_3616+1951dupTTTTTTTTTTTTTTTTTTTTT		RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26						chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG04184.hp2 NA18987.hp2 HG01074.hp1 HG04184.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0134 a0001c0001t0001g0314 a0001c0004t0001g0242 a0001c0001t0001g0134 a0001c0001t0001g0314 a0001c0004t0001g0242	3	332	0.0090	21	c.-42 others(32): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTTT		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding					4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297877	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0051 a0003c0003t0001g0051	1	332	0.0030	21	c.218 others(38): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTTT		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297879	T T	TTCTTTCT others(14): Show TTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0180 a0003c0003t0001g0180	1	332	0.0030	21	c.218 others(38): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTCT		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38286059	C C	CTCCCCTT others(14): Show CTCCCCTTCTCCTTCCTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG01109.hp1 HG01256.hp1 others(33): Show HG00280.hp1 HG01109.hp1 HG01256.hp1 HG01358.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02523.hp1 HG02630.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18975.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19043.hp1 NA19056.hp1 NA19072.hp1 NA20300.hp2 NA20905.hp1	a0004 a0008 a0018 others(4): Show a0004 a0008 a0018 a0023 a0024 a0025 a0035	a0004c0004 a0008c0008 a0018c0018 others(4): Show a0004c0004 a0008c0008 a0018c0018 a0023c0028 a0024c0027 a0025c0026 a0035c0037	a0004c0004t0003 a0008c0008t0003 a0018c0018t0003 others(4): Show a0004c0004t0003 a0008c0008t0003 a0018c0018t0003 a0023c0028t0003 a0024c0027t0003 a0025c0026t0013 a0035c0037t0003	a0004c0004t0003g0016 a0004c0004t0003g0022 a0004c0004t0003g0025 others(24): Show a0004c0004t0003g0016 a0004c0004t0003g0022 a0004c0004t0003g0025 a0004c0004t0003g0027 a0004c0004t0003g0061 a0004c0004t0003g0062 a0004c0004t0003g0065 a0004c0004t0003g0089 a0004c0004t0003g0090 a0004c0004t0003g0091 a0004c0004t0003g0097 a0004c0004t0003g0102 a0004c0004t0003g0105 a0004c0004t0003g0124 a0004c0004t0003g0125 a0004c0004t0003g0126 a0004c0004t0003g0127 a0004c0004t0003g0128 a0004c0004t0003g0176 a0008c0008t0003g0007 a0008c0008t0003g0067 a0018c0018t0003g0100 a0018c0018t0003g0104 a0023c0028t0003g0108 a0024c0027t0003g0110 a0025c0026t0013g0063 a0035c0037t0003g0103	36	302	0.1192	21	c.291 others(30): Show c.2919_2939dupAGGGGAGGAAGGAGAAGGGGA	p.Glu others(34): Show p.Glu980_Gly981insGlyGluGluGlyGluGlyGlu	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	3081/4733	2939/3459	980/1152			chrX	TogoVar
RPGR_chrX_38279408_38332509	38286158	C C	CTCCCCTT others(14): Show CTCCCCTTCTCCATCCTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00438.hp2 HG00558.hp1 others(103): Show HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01175.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0002 a0003 a0016 others(5): Show a0002 a0003 a0016 a0017 a0020 a0021 a0028 a0032	a0002c0002 a0003c0003 a0016c0016 others(5): Show a0002c0002 a0003c0003 a0016c0016 a0017c0015 a0020c0021 a0021c0036 a0028c0032 a0032c0034	a0002c0002t0001 a0002c0002t0007 a0002c0002t0011 others(7): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0011 a0003c0003t0001 a0016c0016t0001 a0017c0015t0001 a0020c0021t0001 a0021c0036t0001 a0028c0032t0001 a0032c0034t0014	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0008 others(65): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0045 a0002c0002t0001g0059 a0002c0002t0001g0066 a0002c0002t0001g0084 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0177 a0002c0002t0001g0181 a0002c0002t0007g0160 a0002c0002t0007g0178 a0002c0002t0011g0148 a0003c0003t0001g0005 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0034 a0003c0003t0001g0118 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0150 a0003c0003t0001g0153 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0158 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0180 a0016c0016t0001g0030 a0017c0015t0001g0122 a0017c0015t0001g0123 a0020c0021t0001g0166 a0021c0036t0001g0154 a0028c0032t0001g0174 a0032c0034t0014g0152	106	302	0.3510	21	c.282 others(30): Show c.2820_2840dupAGGGGAGGATGGAGAAGGGGA	p.Glu others(34): Show p.Glu947_Gly948insGlyGluAspGlyGluGlyGlu	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2982/4733	2840/3459	947/1152			chrX	TogoVar
RPGR_chrX_38279408_38332509	38286437	T T	TCCTTCCT others(14): Show TCCTTCCTCCTCTTCCCCCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19058.hp1 NA19058.hp1	a0027 a0027	a0027c0033 a0027c0033	a0027c0033t0002 a0027c0033t0002	a0027c0033t0002g0085 a0027c0033t0002g0085	1	302	0.0033	21	c.254 others(30): Show c.2541_2561dupGGAGGGGGAAGAGGAGGAAGG	p.Gly others(34): Show p.Gly854_Glu855insGluGlyGluGluGluGluGly	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2703/4733	2561/3459	854/1152			chrX	TogoVar
RPGR_chrX_38279408_38332509	38332504	T T	TATATATA others(14): Show TATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	302	0.0033	21	c.-51 others(32): Show c.-5138_-5137insTATATATATATATATATATAT		RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding					4996		chrX	TogoVar
RPH3AL_chr17_207389_357807	321575	A A	ACAGAGAT others(14): Show ACAGAGATGGCCCAGGTGGCAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19004.hp2 NA19074.hp2 HG02818.hp2 NA19004.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0015 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0010g0015 a0001c0001t0012g0005 a0001c0001t0012g0006	3	133	0.0226	21	c.78- others(34): Show c.78-161_78-160insCTGCCACCTGGGCCATCTCTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	321582	T T	TGGCCCAG others(14): Show TGGCCCAGGTGGCAACAGAGAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0067 a0001c0001t0031g0067	1	133	0.0075	21	c.78- others(34): Show c.78-188_78-168dupGTCTCTGTTGCCACCTGGGCC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9						chr17	TogoVar
RPH3A_chr12_112786748_112903881	112841173	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02080.hp2 HG03834.hp1 others(5): Show HG00642.hp1 HG02080.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18990.hp1 NA19068.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0003 a0001c0001t0036 a0001c0001t0038 others(5): Show a0001c0001t0003 a0001c0001t0036 a0001c0001t0038 a0001c0001t0080 a0001c0001t0161 a0001c0001t0170 a0001c0003t0160 a0001c0014t0113	a0001c0001t0003g0107 a0001c0001t0036g0132 a0001c0001t0038g0123 others(5): Show a0001c0001t0003g0107 a0001c0001t0036g0132 a0001c0001t0038g0123 a0001c0001t0080g0059 a0001c0001t0161g0151 a0001c0001t0170g0152 a0001c0003t0160g0143 a0001c0014t0113g0166	8	266	0.0301	21	c.83+ others(36): Show c.83+4672_83+4692dupAAAAAAAAAAAAAAAAAAAAA		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	21	c.-17 others(32): Show c.-1706_-1705insTATATATATATATATATATAT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	276	0.0036	21	c.-17 others(32): Show c.-1706_-1705insTATATATATATATATATATTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	276	0.0036	21	c.-17 others(32): Show c.-1706_-1705insTATATATATATATATATTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	276	0.0036	21	c.-17 others(32): Show c.-1706_-1705insTATATATATATATATTTTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp1 others(38): Show HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00642.hp1 HG00738.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02698.hp1 HG02738.hp1 HG02965.hp1 HG03225.hp1 HG03486.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 NA18941.hp2 NA18946.hp1 NA18960.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA19010.hp1 NA19010.hp2 NA19078.hp2 NA19084.hp2 NA19086.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0030 a0001c0001t0006g0043 a0001c0001t0009g0009 a0002c0004t0001g0046	41	338	0.1213	21	c.20 others(32): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTT		RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding					1527		chr19	TogoVar
RPL13_chr16_89555682_89569542	89568955	G G	GCACACGC others(14): Show GCACACGCGTGTAGTCCTAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	21	c.59 others(32): Show c.5913_*5914insCACACGCGTGTAGTCCTAGCT		RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding					4414		chr16	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(14): Show ACTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 NA18946.hp1 HG00621.hp2 NA18946.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0005 a0015c0017t0091 a0015c0017t0005 a0015c0017t0091	a0015c0017t0005g0006 a0015c0017t0091g0002 a0015c0017t0005g0006 a0015c0017t0091g0002	2	418	0.0048	21	c.457 others(28): Show c.457_477dupGCTGCTGCTGCTGCTGCTGCT	p.Ala others(13): Show p.Ala153_Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL22_chr1_6180020_6204595	6203210	T T	TCTTCCAA others(14): Show TCTTCCAAGCAGTTAATGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	372	0.0027	21	c.-36 others(32): Show c.-3658_-3638dupGCTGCATTAACTGCTTGGAAG		RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding					3616		chr1	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG03927.hp2 HG02922.hp1 HG02976.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0006 a0001c0001t0007g0007 a0001c0001t0006g0006 a0001c0001t0007g0007	3	418	0.0072	21	c.50 others(32): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp2 HG04228.hp2 others(3): Show HG00544.hp1 HG01175.hp2 HG04228.hp2 NA18946.hp1 NA19010.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0168 a0001c0001t0003g0064	6	444	0.0135	21	c.192 others(38): Show c.192+1021_192+1041dupTTTTTTTTTTTTTTTTTTTTT		RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5						chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	422	0.0024	21	c.26 others(32): Show c.2606_*2626dupTTTTTTTTTTTTTTTTTTTTT		RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding					2578		chr17	TogoVar
RPL34_chr4_108615576_108630370	108618564	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	392	0.0026	21	c.-20 others(32): Show c.-2046_-2045insTTATTATTATTATTATTATTA		RPL34	ENSG00000109475.17	transcript	ENST00000394667.8	protein_coding					2011		chr4	TogoVar
RPL39L_chr3_187115948_187144496	187134483	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	400	0.0025	21	c.-93 others(38): Show c.-93+4729_-93+4730insTTTTTTTTTTTTTTTTTTTTT		RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2						chr3	TogoVar
RPL39L_chr3_187115948_187144496	187134496	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp2 NA18951.hp2 others(5): Show HG00544.hp2 HG02083.hp2 NA18951.hp2 NA18955.hp1 NA18969.hp2 NA18972.hp1 NA19078.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0056 a0001c0001t0005g0057 others(1): Show a0001c0001t0005g0013 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058	8	400	0.0200	21	c.-93 others(38): Show c.-93+4716_-93+4717insCTTTTTTTTTTTTTTTTTTTT		RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2						chr3	TogoVar
RPL7A_chr9_133343218_133356426	133356366	G G	GCCCCGCA others(14): Show GCCCCGCACCCCGCACCCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02895.hp2 others(6): Show HG00735.hp1 HG01884.hp2 HG02895.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG04199.hp1 HG04199.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	9	436	0.0206	21	c.50 others(32): Show c.5000_*5001insCCCCGCACCCCGCACCCCGCA		RPL7A	ENSG00000148303.17	transcript	ENST00000323345.11	protein_coding					4941		chr9	TogoVar
RPP25_chr15_74949418_74961772	74950068	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	21	c.59 others(32): Show c.5915_*5916insAAAAAAAAAAAAAAAAAAAAA		RPP25	ENSG00000178718.7	transcript	ENST00000322177.6	protein_coding					4349		chr15	TogoVar
RPRD2_chr1_150359147_150481566	150422340	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02056.hp1 HG03041.hp2 others(5): Show HG01243.hp1 HG02056.hp1 HG03041.hp2 NA18939.hp1 NA18953.hp2 NA18984.hp2 NA19060.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0001t0040 a0003c0005t0005 a0003c0005t0030	a0001c0001t0002g0249 a0001c0001t0002g0259 a0001c0001t0002g0303 others(5): Show a0001c0001t0002g0249 a0001c0001t0002g0259 a0001c0001t0002g0303 a0001c0001t0004g0264 a0001c0001t0020g0292 a0001c0001t0040g0289 a0003c0005t0005g0214 a0003c0005t0030g0213	8	318	0.0252	21	c.335 others(38): Show c.335+4624_335+4644dupTAATAATAATAATAATAATAA		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRD2_chr1_150359147_150481566	150422367	T T	TAATAATA others(14): Show TAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02683.hp1 HG03490.hp1 others(4): Show HG02129.hp1 HG02683.hp1 HG03490.hp1 HG03492.hp2 HG03834.hp2 HG04115.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0258 a0001c0001t0002g0279 a0001c0001t0004g0002 others(3): Show a0001c0001t0002g0258 a0001c0001t0002g0279 a0001c0001t0004g0002 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0270	7	318	0.0220	21	c.335 others(38): Show c.335+4644_335+4645insTAATAATAATAATAATAAAAA		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRD2_chr1_150359147_150481566	150431473	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01346.hp1 HG01978.hp1 others(8): Show HG00558.hp1 HG01346.hp1 HG01978.hp1 HG02080.hp2 HG02165.hp1 HG02257.hp1 HG02683.hp2 HG03239.hp2 HG03831.hp2 NA18906.hp2 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0050 a0002c0003t0051	a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0067 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0305 a0001c0001t0006g0069 a0001c0001t0014g0074 a0001c0001t0050g0095 a0002c0003t0051g0057	11	318	0.0346	21	c.336 others(38): Show c.336-9446_336-9426dupTTTTTTTTTTTTTTTTTTTTT		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRML_chr17_46973156_46984253	46980666	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG03831.hp1 NA18944.hp1 others(4): Show HG01346.hp1 HG03831.hp1 NA18944.hp1 NA18987.hp2 NA19002.hp1 NA19076.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	452	0.0155	21	c.-16 others(32): Show c.-1660_-1659insTTTTTTTTTTTTTTTTTTTTT		RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding					1414		chr17	TogoVar
RPRM_chr2_153472338_153483762	153482133	C C	CCAAATTC others(14): Show CCAAATTCTTTCTCAGAACCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	410	0.0024	21	c.-35 others(32): Show c.-3569_-3568insTAGGTTCTGAGAAAGAATTTG		RPRM	ENSG00000177519.4	transcript	ENST00000325926.4	protein_coding					3372		chr2	TogoVar
RPS10_chr6_34412454_34431069	34424140	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01243.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0105 a0001c0001t0002g0075 a0001c0001t0002g0105	2	390	0.0051	21	c.322 others(36): Show c.322+508_322+528dupTTTTTTTTTTTTTTTTTTTTT		RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	3/5						chr6	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	390	0.0026	21	c.-10 others(32): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTT		RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding					1010		chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(39): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00738.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01952.hp1 HG01952.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02698.hp2 HG02738.hp1 HG02965.hp1 HG03225.hp1 HG03486.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 NA18946.hp2 NA18960.hp1 NA18961.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA19010.hp1 NA19010.hp2 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0034	42	352	0.1193	21	c.-26 others(32): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTT		RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding					2599		chr19	TogoVar
RPS14_chr5_150437635_150454739	150439093	A A	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	414	0.0024	21	c.51 others(32): Show c.5192_*5193insCTTCCTTCCTTCCTTCCTTCC		RPS14	ENSG00000164587.13	transcript	ENST00000407193.7	protein_coding					3541		chr5	TogoVar
RPS29_chr14_49578577_49591380	49582012	C C	CCAAAAAA others(14): Show CCAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02809.hp1 HG00733.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	335	0.0060	21	c.16 others(32): Show c.1654_*1655insTTTTTTTTTTTTTTTTTTTTG		RPS29	ENSG00000213741.11	transcript	ENST00000245458.11	protein_coding					1564		chr14	TogoVar
RPS6KA2_chr6_166404364_166632251	166480477	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02293.hp2 others(2): Show HG01256.hp2 HG01258.hp2 HG02293.hp2 HG03225.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0035 a0001c0002 a0001c0009 a0001c0035	a0001c0002t0009 a0001c0009t0001 a0001c0035t0024 a0001c0002t0009 a0001c0009t0001 a0001c0035t0024	a0001c0002t0009g0119 a0001c0009t0001g0177 a0001c0009t0001g0218 others(2): Show a0001c0002t0009g0119 a0001c0009t0001g0177 a0001c0009t0001g0218 a0001c0009t0001g0219 a0001c0035t0024g0006	5	244	0.0205	21	c.907 others(38): Show c.907+8355_907+8356insTATATATATATATATATATAT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84140750	A A	AACCATAC others(14): Show AACCATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA19003.hp1 HG01168.hp2 HG01169.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0051 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0051	3	272	0.0110	21	c.501 others(38): Show c.501+4727_501+4728insATATATATATATATGTATGGT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21						chrX	TogoVar

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