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	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
RPTOR_chr17_80539838_80971368	80744847	T T	TCCTGGTT others(11): Show TCCTGGTTACTAGCAGAGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0029 a0001c0011 a0001c0029	a0001c0011t0062 a0001c0029t0025 a0001c0011t0062 a0001c0029t0025	a0001c0011t0062g0114 a0001c0029t0025g0153 a0001c0011t0062g0114 a0001c0029t0025g0153	2	196	0.0102	18	c.655 others(35): Show c.655-9158_655-9157insTTACTAGCAGAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744871	T T	TTACTAGC others(11): Show TTACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0077 a0001c0057t0077	a0001c0057t0077g0016 a0001c0057t0077g0016	1	196	0.0051	18	c.655 others(35): Show c.655-9136_655-9135insTAGCACAGCCCTGGCTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744901	T T	TCCTGGTT others(11): Show TCCTGGTTACGAGCACAGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0029 a0001c0011 a0001c0029	a0001c0011t0062 a0001c0029t0025 a0001c0011t0062 a0001c0029t0025	a0001c0011t0062g0114 a0001c0029t0025g0153 a0001c0011t0062g0114 a0001c0029t0025g0153	2	196	0.0102	18	c.655 others(35): Show c.655-9104_655-9103insTTACGAGCACAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744919	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0078 a0001c0009t0078	a0001c0009t0078g0021 a0001c0009t0078g0021	1	196	0.0051	18	c.655 others(35): Show c.655-9086_655-9085insCTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD3_chr3_9832849_9849008	9839571	A A	AGCCAAGT others(11): Show AGCCAAGTGCAGTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	452	0.0022	18	c.701 others(33): Show c.701-418_701-401dupAAAAAAACTGCACTTGGC		RPUSD3	ENSG00000156990.14	transcript	ENST00000383820.10	protein_coding	7/8						chr3	TogoVar
RPUSD4_chr11_126197096_126216650	126210520	T T	TACATACA others(11): Show TACATACATACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03654.hp2 HG03704.hp2 others(7): Show HG01168.hp1 HG03654.hp2 HG03704.hp2 NA18612.hp2 NA18939.hp1 NA18950.hp1 NA18959.hp1 NA18968.hp2 NA19010.hp2 NA20905.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0008 a0002c0001t0001g0070 a0002c0001t0001g0008 a0002c0001t0001g0070	10	416	0.0240	18	c.355 others(33): Show c.355+369_355+370insGTGTGTGTGTATGTATGT		RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding	2/6						chr11	TogoVar
RPUSD4_chr11_126197096_126216650	126214490	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0015 a0002c0001t0003g0015	1	416	0.0024	18	c.-28 others(29): Show c.-2853_-2852insAAAAAAAAAAAAAAAAAA		RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding					2841		chr11	TogoVar
RRAD_chr16_66916685_66930535	66924678	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01975.hp1 HG01993.hp2 others(6): Show HG01255.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp1 HG03831.hp1 NA18941.hp1 NA18953.hp1 NA19058.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	9	386	0.0233	18	c.370 others(33): Show c.370+114_370+131dupATTATTATTATTATTATT		RRAD	ENSG00000166592.13	transcript	ENST00000299759.11	protein_coding	2/4						chr16	TogoVar
RRAD_chr16_66916685_66930535	66924699	T T	TAATAATA others(11): Show TAATAATAATAATAATAAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	386	0.0026	18	c.370 others(33): Show c.370+110_370+111insGTTATTATTATTATTATT		RRAD	ENSG00000166592.13	transcript	ENST00000299759.11	protein_coding	2/4						chr16	TogoVar
RRAGB_chrX_55712749_55763774	55747812	G G	GCTCCCTC others(11): Show GCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01255.hp1 HG01884.hp2 others(2): Show HG00609.hp1 HG01255.hp1 HG01884.hp2 NA19056.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0115 a0001c0001t0002g0127	5	276	0.0181	18	c.517 others(35): Show c.517-3271_517-3254dupTCTCCCTCTCCCTCTCCC		RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
RRAGC_chr1_38833198_38864772	38836544	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01346.hp1 HG01516.hp1 others(1): Show HG01255.hp1 HG01346.hp1 HG01516.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0008 a0001c0001t0004g0092 a0001c0001t0004g0095 others(1): Show a0001c0001t0004g0008 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0013g0093	4	418	0.0096	18	c.30 others(29): Show c.3008_*3009insTTTTTTTTTTTTTTTTTT		RRAGC	ENSG00000116954.8	transcript	ENST00000373001.4	protein_coding					1653		chr1	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02109.hp1 HG02572.hp1 others(3): Show HG01993.hp1 HG02109.hp1 HG02572.hp1 HG02895.hp1 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0023 a0001c0001t0002 a0001c0001t0012 a0001c0001t0023	a0001c0001t0002g0133 a0001c0001t0012g0312 a0001c0001t0012g0313 others(3): Show a0001c0001t0002g0133 a0001c0001t0012g0312 a0001c0001t0012g0313 a0001c0001t0012g0314 a0001c0001t0012g0315 a0001c0001t0023g0247	6	372	0.0161	18	c.445 others(35): Show c.445-2051_445-2034dupATATATATATATATATAT		RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6						chr6	TogoVar
RRAGD_chr6_89359616_89417273	89402038	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0326 a0001c0001t0007g0326	1	372	0.0027	18	c.148 others(35): Show c.148+9807_148+9808insAAAAAGAAAAAAAAAAAA		RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	1/6						chr6	TogoVar
RRAGD_chr6_89359616_89417273	89402038	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18943.hp2 NA18985.hp2 HG02080.hp1 NA18943.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109	3	372	0.0081	18	c.148 others(35): Show c.148+9790_148+9807dupAAAAAAAAAAAAAAAAAA		RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	1/6						chr6	TogoVar
RRAS2_chr11_14272922_14364183	14280726	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	279	0.0036	18	c.527 others(33): Show c.527+858_527+875dupTTTTTTTTTTTTTTTTTT		RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	5/5						chr11	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02074.hp1 others(3): Show HG01516.hp1 HG01517.hp2 HG02074.hp1 NA18945.hp1 NA19056.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0059 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0085 a0001c0001t0001g0090	6	279	0.0215	18	c.408 others(35): Show c.408+1329_408+1346dupATATATATATATATATAT		RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5						chr11	TogoVar
RRAS2_chr11_14272922_14364183	14302073	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp1 others(10): Show HG00140.hp2 HG00438.hp2 HG00621.hp1 HG01952.hp1 HG02040.hp1 HG02293.hp2 HG02818.hp2 HG03139.hp1 HG03516.hp2 HG04184.hp1 NA19012.hp2 NA19079.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0001g0153 a0001c0001t0001g0198 others(10): Show a0001c0001t0001g0103 a0001c0001t0001g0153 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0248 a0001c0001t0002g0033 a0001c0001t0002g0105 a0001c0001t0002g0126 a0001c0001t0002g0143 a0001c0001t0002g0194 a0001c0001t0002g0243 a0001c0001t0003g0269	13	279	0.0466	18	c.109 others(35): Show c.109-6236_109-6219dupGTGTGTGTGTGTGTGTGT		RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	1/5						chr11	TogoVar
RRBP1_chr20_17608679_17687242	17685248	A A	AGAAGGGG others(11): Show AGAAGGGGAAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02280.hp2 HG03486.hp1 others(1): Show HG00741.hp1 HG02280.hp2 HG03486.hp1 NA19070.hp1	a0002 a0007 a0013 a0002 a0007 a0013	a0002c0001 a0007c0007 a0013c0032 a0002c0001 a0007c0007 a0013c0032	a0002c0001t0001 a0007c0007t0001 a0013c0032t0002 a0002c0001t0001 a0007c0007t0001 a0013c0032t0002	a0002c0001t0001g0291 a0007c0007t0001g0310 a0013c0032t0002g0275 others(1): Show a0002c0001t0001g0291 a0007c0007t0001g0310 a0013c0032t0002g0275 a0013c0032t0002g0278	4	350	0.0114	18	c.-33 others(29): Show c.-3320_-3319insCCCTTCCCCTTCCCCTTC		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					3007		chr20	TogoVar
RRBP1_chr20_17608679_17687242	17685254	A A	AGAAGAGG others(11): Show AGAAGAGGAAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0095 a0002c0095	a0002c0095t0001 a0002c0095t0001	a0002c0095t0001g0217 a0002c0095t0001g0217	1	350	0.0029	18	c.-33 others(29): Show c.-3326_-3325insCCCTTCCCCTTCCTCTTC		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					3013		chr20	TogoVar
RRBP1_chr20_17608679_17687242	17685254	A A	AGAAGGAG others(11): Show AGAAGGAGAAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 NA19081.hp1 HG03654.hp1 NA19081.hp1	a0004 a0032 a0004 a0032	a0004c0006 a0032c0101 a0004c0006 a0032c0101	a0004c0006t0001 a0032c0101t0003 a0004c0006t0001 a0032c0101t0003	a0004c0006t0001g0096 a0032c0101t0003g0090 a0004c0006t0001g0096 a0032c0101t0003g0090	2	350	0.0057	18	c.-33 others(29): Show c.-3326_-3325insCCCTTCCCCTTCTCCTTC		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					3013		chr20	TogoVar
RRBP1_chr20_17608679_17687242	17685254	A A	AGAAGGGG others(11): Show AGAAGGGGAAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(162): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015 a0019 a0020 a0021 a0024 a0025 a0026 a0027 a0029 a0037 a0040 a0041 a0044 a0047 a0053 a0062 a0063 a0064 a0066 a0069 a0071	a0001c0002 a0001c0004 a0001c0012 others(54): Show a0001c0002 a0001c0004 a0001c0012 a0001c0023 a0001c0024 a0001c0025 a0001c0091 a0002c0001 a0002c0052 a0002c0086 a0002c0089 a0002c0094 a0002c0097 a0003c0003 a0003c0018 a0003c0127 a0005c0014 a0005c0118 a0006c0005 a0006c0016 a0009c0088 a0010c0009 a0010c0062 a0011c0010 a0011c0068 a0012c0020 a0012c0076 a0014c0037 a0014c0109 a0014c0110 a0015c0026 a0019c0077 a0019c0078 a0020c0063 a0020c0064 a0020c0065 a0021c0022 a0024c0027 a0025c0107 a0025c0108 a0026c0098 a0026c0099 a0027c0039 a0029c0041 a0029c0042 a0037c0125 a0040c0040 a0041c0050 a0044c0121 a0047c0045 a0053c0081 a0062c0087 a0063c0104 a0064c0123 a0066c0053 a0069c0112 a0071c0085	a0001c0002t0003 a0001c0002t0015 a0001c0004t0001 others(60): Show a0001c0002t0003 a0001c0002t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0001c0004t0017 a0001c0012t0005 a0001c0023t0003 a0001c0024t0002 a0001c0025t0003 a0001c0091t0003 a0002c0001t0001 a0002c0052t0001 a0002c0086t0001 a0002c0089t0001 a0002c0094t0001 a0002c0097t0001 a0003c0003t0003 a0003c0003t0010 a0003c0018t0002 a0003c0127t0001 a0005c0014t0002 a0005c0118t0002 a0006c0005t0002 a0006c0016t0002 a0009c0088t0001 a0010c0009t0004 a0010c0062t0004 a0011c0010t0002 a0011c0068t0002 a0012c0020t0002 a0012c0076t0002 a0014c0037t0001 a0014c0109t0001 a0014c0110t0001 a0015c0026t0002 a0019c0077t0002 a0019c0078t0002 a0020c0063t0002 a0020c0064t0002 a0020c0065t0002 a0021c0022t0001 a0024c0027t0001 a0025c0107t0003 a0025c0108t0001 a0026c0098t0001 a0026c0099t0001 a0027c0039t0001 a0029c0041t0002 a0029c0042t0002 a0037c0125t0003 a0040c0040t0002 a0041c0050t0003 a0044c0121t0001 a0047c0045t0001 a0053c0081t0002 a0062c0087t0004 a0063c0104t0003 a0064c0123t0001 a0066c0053t0002 a0069c0112t0001 a0071c0085t0001	a0001c0002t0003g0124 a0001c0002t0003g0153 a0001c0002t0003g0183 others(149): Show a0001c0002t0003g0124 a0001c0002t0003g0153 a0001c0002t0003g0183 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0190 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0227 a0001c0002t0003g0245 a0001c0002t0003g0258 a0001c0002t0003g0272 a0001c0002t0015g0170 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0219 a0001c0004t0001g0221 a0001c0004t0002g0213 a0001c0004t0002g0244 a0001c0004t0005g0173 a0001c0004t0012g0214 a0001c0004t0017g0331 a0001c0012t0005g0168 a0001c0012t0005g0169 a0001c0012t0005g0171 a0001c0023t0003g0175 a0001c0024t0002g0206 a0001c0024t0002g0212 a0001c0024t0002g0261 a0001c0025t0003g0226 a0001c0025t0003g0231 a0001c0025t0003g0270 a0001c0091t0003g0185 a0002c0001t0001g0002 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0023 a0002c0001t0001g0132 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0172 a0002c0001t0001g0184 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0218 a0002c0001t0001g0220 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0246 a0002c0001t0001g0267 a0002c0001t0001g0290 a0002c0001t0001g0293 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0052t0001g0196 a0002c0086t0001g0241 a0002c0089t0001g0176 a0002c0094t0001g0266 a0002c0097t0001g0174 a0003c0003t0003g0001 a0003c0003t0003g0029 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0043 a0003c0003t0003g0283 a0003c0003t0010g0027 a0003c0018t0002g0039 a0003c0018t0002g0041 a0003c0018t0002g0042 a0003c0018t0002g0045 a0003c0127t0001g0038 a0005c0014t0002g0142 a0005c0014t0002g0143 a0005c0014t0002g0144 a0005c0014t0002g0145 a0005c0014t0002g0146 a0005c0118t0002g0147 a0006c0005t0002g0046 a0006c0005t0002g0051 a0006c0016t0002g0004 a0006c0016t0002g0047 a0009c0088t0001g0201 a0010c0009t0004g0013 a0010c0009t0004g0327 a0010c0009t0004g0328 a0010c0009t0004g0329 a0010c0009t0004g0330 a0010c0062t0004g0326 a0011c0010t0002g0178 a0011c0010t0002g0179 a0011c0010t0002g0181 a0011c0010t0002g0259 a0011c0010t0002g0260 a0011c0068t0002g0180 a0012c0020t0002g0296 a0012c0020t0002g0297 a0012c0076t0002g0298 a0014c0037t0001g0156 a0014c0109t0001g0262 a0014c0110t0001g0233 a0015c0026t0002g0009 a0019c0077t0002g0299 a0019c0078t0002g0300 a0020c0063t0002g0165 a0020c0064t0002g0271 a0020c0065t0002g0167 a0021c0022t0001g0197 a0021c0022t0001g0198 a0021c0022t0001g0199 a0024c0027t0001g0010 a0025c0107t0003g0194 a0025c0108t0001g0294 a0026c0098t0001g0232 a0026c0099t0001g0269 a0027c0039t0001g0040 a0027c0039t0001g0044 a0029c0041t0002g0265 a0029c0042t0002g0264 a0037c0125t0003g0028 a0040c0040t0002g0263 a0041c0050t0003g0195 a0044c0121t0001g0177 a0047c0045t0001g0240 a0053c0081t0002g0303 a0062c0087t0004g0325 a0063c0104t0003g0152 a0064c0123t0001g0235 a0066c0053t0002g0166 a0069c0112t0001g0234 a0071c0085t0001g0200	165	350	0.4714	18	c.-33 others(29): Show c.-3326_-3325insCCCTTCCCCTTCCCCTTC		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					3013		chr20	TogoVar
RRBP1_chr20_17608679_17687242	17685263	A A	AGGGGAAG others(11): Show AGGGGAAGGGGAAGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0003 a0001c0093t0003	a0001c0093t0003g0193 a0001c0093t0003g0193	1	350	0.0029	18	c.-33 others(29): Show c.-3335_-3334insGTCCCCTTCCCCTTCCCC		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					3022		chr20	TogoVar
RREB1_chr6_7102961_7256980	7107673	G G	GCGCCGCC others(11): Show GCGCCGCCGCCGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0235 a0001c0001t0082g0235	1	292	0.0034	18	c.-67 others(27): Show c.-672_-671insCGCCGCCGCCGCCGCCGC		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding					287		chr6	TogoVar
RREB1_chr6_7102961_7256980	7110479	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19030.hp1 HG02809.hp1 NA19030.hp1	a0024 a0039 a0024 a0039	a0024c0039 a0039c0047 a0024c0039 a0039c0047	a0024c0039t0026 a0039c0047t0027 a0024c0039t0026 a0039c0047t0027	a0024c0039t0026g0249 a0039c0047t0027g0209 a0024c0039t0026g0249 a0039c0047t0027g0209	2	292	0.0069	18	c.-28 others(37): Show c.-285+2420_-285+2437dupGTGTGTGTGTGTGTGTGT		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
RREB1_chr6_7102961_7256980	7117388	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0053 a0006c0009t0053	a0006c0009t0053g0014 a0006c0009t0053g0014	1	292	0.0034	18	c.-28 others(37): Show c.-285+9348_-285+9365dupTTTTTTTTTTTTTTTTTT		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
RREB1_chr6_7102961_7256980	7153413	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02818.hp2 others(3): Show HG01243.hp1 HG01891.hp1 HG02818.hp2 HG03130.hp2 HG03209.hp1 NA18522.hp1	a0004 a0005 a0010 others(1): Show a0004 a0005 a0010 a0013	a0004c0006 a0005c0003 a0010c0015 others(1): Show a0004c0006 a0005c0003 a0010c0015 a0013c0013	a0004c0006t0058 a0005c0003t0012 a0005c0003t0018 others(3): Show a0004c0006t0058 a0005c0003t0012 a0005c0003t0018 a0005c0003t0046 a0010c0015t0019 a0013c0013t0080	a0004c0006t0058g0048 a0005c0003t0012g0260 a0005c0003t0018g0001 others(3): Show a0004c0006t0058g0048 a0005c0003t0012g0260 a0005c0003t0018g0001 a0005c0003t0046g0258 a0010c0015t0019g0182 a0013c0013t0080g0234	6	292	0.0206	18	c.-28 others(39): Show c.-284-23228_-284-23211dupCACACACACACACACACA		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
RRH_chr4_109822972_109849942	109836891	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03130.hp2 others(2): Show HG02622.hp1 HG02647.hp2 HG03130.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0023 a0001c0001t0005g0143 a0001c0001t0005g0144	5	402	0.0124	18	c.552 others(33): Show c.552-543_552-526dupAAAAAAAAAAAAAAAAAA		RRH	ENSG00000180245.7	transcript	ENST00000317735.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG02486.hp1 others(3): Show HG01074.hp1 HG02055.hp1 HG02486.hp1 HG02965.hp1 NA18982.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0001t0001 a0001c0005t0001 a0001c0009t0001	a0001c0001t0001g0186 a0001c0001t0001g0307 a0001c0001t0001g0308 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0005t0001g0323 a0001c0009t0001g0266	6	368	0.0163	18	c.176 others(35): Show c.1769+920_1769+937dupATATATATATATATATAT		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
RRP7A_chr22_42503344_42524796	42505914	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0106 a0001c0003t0106	a0001c0003t0106g0169 a0001c0003t0106g0169	1	388	0.0026	18	c.69 others(29): Show c.6995_*6996insTTTTTTTTTTTTTTTTTT		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding					2429		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0127 a0003c0004t0127	a0003c0004t0127g0227 a0003c0004t0127g0227	1	388	0.0026	18	c.30 others(29): Show c.3061_*3062insACACACACACACACACAC		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7				3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG02630.hp1 HG02717.hp2 others(9): Show HG01433.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 NA18612.hp2 NA18947.hp2 NA18957.hp1 NA19070.hp1 NA20129.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0002c0001 a0009c0014 a0001c0003 a0002c0001 a0009c0014	a0001c0003t0020 a0001c0003t0096 a0001c0003t0103 others(5): Show a0001c0003t0020 a0001c0003t0096 a0001c0003t0103 a0001c0003t0120 a0002c0001t0019 a0002c0001t0035 a0002c0001t0075 a0009c0014t0035	a0001c0003t0020g0024 a0001c0003t0096g0186 a0001c0003t0103g0167 others(5): Show a0001c0003t0020g0024 a0001c0003t0096g0186 a0001c0003t0103g0167 a0001c0003t0120g0177 a0002c0001t0019g0018 a0002c0001t0035g0104 a0002c0001t0075g0094 a0009c0014t0035g0062	12	388	0.0309	18	c.30 others(29): Show c.3042_*3059dupACACACACACACACACAC		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7				3059		chr22	TogoVar
RSAD1_chr17_50473860_50490974	50483189	A A	AAAAAAAA others(11): Show AAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG02572.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	2	382	0.0052	18	c.905 others(33): Show c.905-148_905-147insAAAAAAGAAAGAAAGAAA		RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	336	0.0030	18	c.587 others(37): Show c.587-11162_587-11145dupTTTTTTTTTTTTTTTTTT		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	336	0.0030	18	c.51 others(29): Show c.5150_*5151insAAAAAAAAAAAAAAAAAA		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding					1297		chr7	TogoVar
RSF1_chr11_77655009_77825722	77658011	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG04115.hp2 NA19082.hp2 HG01884.hp2 HG04115.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0297 a0001c0001t0004g0100 a0001c0001t0004g0142 a0001c0001t0001g0297 a0001c0001t0004g0100 a0001c0001t0004g0142	3	352	0.0085	18	c.89 others(29): Show c.8905_*8906insTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding					1997		chr11	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01123.hp1 others(16): Show HG00140.hp1 HG01070.hp2 HG01123.hp1 HG01891.hp1 HG02015.hp2 HG02055.hp1 HG02273.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG06807.hp1 NA18964.hp2 NA18979.hp1 NA18990.hp1 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0004c0006	a0001c0001t0002 a0002c0003t0002 a0002c0003t0021 others(2): Show a0001c0001t0002 a0002c0003t0002 a0002c0003t0021 a0002c0004t0002 a0004c0006t0012	a0001c0001t0002g0110 a0001c0001t0002g0128 a0001c0001t0002g0130 others(16): Show a0001c0001t0002g0110 a0001c0001t0002g0128 a0001c0001t0002g0130 a0002c0003t0002g0214 a0002c0003t0002g0216 a0002c0003t0002g0219 a0002c0003t0002g0224 a0002c0003t0002g0229 a0002c0003t0002g0233 a0002c0003t0002g0241 a0002c0003t0002g0346 a0002c0003t0002g0347 a0002c0003t0002g0348 a0002c0003t0021g0209 a0002c0003t0021g0212 a0002c0004t0002g0231 a0002c0004t0002g0234 a0002c0004t0002g0237 a0004c0006t0012g0001	19	352	0.0540	18	c.290 others(37): Show c.2901-1267_2901-1250dupTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77692233	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 homoSapiens_chm13v2.hp1 HG03098.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0276 a0001c0001t0001g0096 a0001c0001t0001g0276	2	352	0.0057	18	c.282 others(36): Show c.2821-1013_2821-996dupAAAAAAAAAAAAAAAAAA		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	8/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77729895	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	352	0.0028	18	c.579 others(35): Show c.579-4214_579-4197dupTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77737619	G G	GGTGGGTG others(11): Show GGTGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01192.hp1 NA18747.hp1 others(2): Show HG00609.hp1 HG01192.hp1 NA18747.hp1 NA18971.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0056 a0001c0001t0004 a0001c0001t0011 a0001c0001t0056	a0001c0001t0004g0154 a0001c0001t0004g0185 a0001c0001t0011g0162 others(2): Show a0001c0001t0004g0154 a0001c0001t0004g0185 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0056g0141	5	352	0.0142	18	c.578 others(35): Show c.578+3111_578+3112insACACACACACACACCCAC		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77737619	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19007.hp1 NA18967.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0300 a0001c0001t0047g0102 a0001c0001t0001g0300 a0001c0001t0047g0102	2	352	0.0057	18	c.578 others(35): Show c.578+3111_578+3112insACACACACACACACACAC		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15						chr11	TogoVar
RSL1D1_chr16_11828850_11856542	11837038	A A	ATCGTGGC others(11): Show ATCGTGGCTCACTGGAGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0210 a0001c0001t0026g0210	1	406	0.0025	18	c.73 others(27): Show c.731_*748dupGGCTCCAGTGAGCCACGA		RSL1D1	ENSG00000171490.13	transcript	ENST00000571133.6	protein_coding	9/9				748		chr16	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01071.hp2 HG01192.hp2 others(33): Show HG00558.hp2 HG01071.hp2 HG01192.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02004.hp2 HG02027.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp1 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03195.hp2 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03834.hp1 HG06807.hp1 NA18906.hp1 NA18942.hp1 NA19004.hp2 NA19007.hp2 NA19043.hp1 NA19058.hp2 NA19091.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0011t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0150 a0001c0001t0001g0151 others(33): Show a0001c0001t0001g0008 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0002t0001g0022 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0107 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0011t0001g0211 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0146 a0003c0004t0001g0175 a0003c0004t0001g0301 a0003c0004t0001g0302	36	314	0.1147	18	c.421 others(35): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar
RSPH3_chr6_158967871_159005202	158984434	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG01069.hp1 others(13): Show HG00280.hp1 HG00609.hp2 HG01069.hp1 HG02109.hp2 HG02280.hp1 HG04228.hp2 NA18945.hp2 NA18948.hp1 NA18953.hp2 NA18961.hp1 NA18962.hp2 NA18986.hp2 NA19056.hp1 NA19057.hp1 NA19070.hp2 NA19081.hp1	a0002 a0003 a0016 a0002 a0003 a0016	a0002c0002 a0003c0004 a0016c0018 a0002c0002 a0003c0004 a0016c0018	a0002c0002t0002 a0002c0002t0049 a0003c0004t0006 others(2): Show a0002c0002t0002 a0002c0002t0049 a0003c0004t0006 a0003c0004t0010 a0016c0018t0002	a0002c0002t0002g0016 a0002c0002t0002g0029 a0002c0002t0002g0161 others(10): Show a0002c0002t0002g0016 a0002c0002t0002g0029 a0002c0002t0002g0161 a0002c0002t0002g0167 a0002c0002t0002g0169 a0002c0002t0002g0175 a0002c0002t0002g0198 a0002c0002t0002g0201 a0002c0002t0002g0203 a0002c0002t0049g0229 a0003c0004t0006g0148 a0003c0004t0010g0230 a0016c0018t0002g0174	16	302	0.0530	18	c.347 others(33): Show c.347-628_347-627insTATATATATATATATAAA		RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7						chr6	TogoVar
RSPH6A_chr19_45790713_45820308	45795880	T T	TCTCCTCG others(11): Show TCTCCTCGCCCTCCTCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(133): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01255.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp1 HG03654.hp2 HG03688.hp2 HG04115.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0002 a0005 a0008 others(2): Show a0002 a0005 a0008 a0009 a0012	a0002c0002 a0002c0009 a0002c0010 others(4): Show a0002c0002 a0002c0009 a0002c0010 a0005c0005 a0008c0021 a0009c0014 a0012c0013	a0002c0002t0001 a0002c0009t0001 a0002c0010t0001 others(4): Show a0002c0002t0001 a0002c0009t0001 a0002c0010t0001 a0005c0005t0001 a0008c0021t0001 a0009c0014t0001 a0012c0013t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0009 others(108): Show a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0296 a0002c0009t0001g0051 a0002c0009t0001g0052 a0002c0010t0001g0053 a0005c0005t0001g0033 a0005c0005t0001g0191 a0005c0005t0001g0200 a0008c0021t0001g0328 a0009c0014t0001g0174 a0012c0013t0001g0212	136	424	0.3208	18	c.212 others(27): Show c.2125_2142dupGAGGAGGAGGGCGAGGAG	p.Glu others(31): Show p.Glu714_Thr715insGluGluGluGlyGluGlu	RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	6/6	2274/2442	2142/2154	714/717			chr19	TogoVar
RSPH6A_chr19_45790713_45820308	45817417	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	424	0.0024	18	c.-22 others(29): Show c.-2259_-2242dupAAAAAAAAAAAAAAAAAA		RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding					2110		chr19	TogoVar
RSPO2_chr8_107894316_108088620	107992174	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03540.hp1 HG03927.hp2 others(1): Show HG03490.hp1 HG03540.hp1 HG03927.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0154 a0001c0001t0002g0188 others(1): Show a0001c0001t0002g0082 a0001c0001t0002g0154 a0001c0001t0002g0188 a0001c0001t0002g0201	4	240	0.0167	18	c.95- others(33): Show c.95-2948_95-2931dupGTGTGTGTGTGTGTGTGT		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO3_chr6_127113671_127204481	127117936	G G	GAAAAAGA others(11): Show GAAAAAGAAAGAAAGAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	310	0.0032	18	c.-12 others(29): Show c.-1257_-1256insAAAAAGAAAGAAAGAAAC		RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding					734		chr6	TogoVar
RSPO3_chr6_127113671_127204481	127144643	G G	GTTTTTTT others(11): Show GTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG03195.hp2 others(3): Show HG01884.hp2 HG02257.hp1 HG03195.hp2 HG03540.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0022 a0001c0001t0003 a0001c0001t0014 a0001c0001t0022	a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0144 others(3): Show a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0014g0142 a0001c0001t0022g0143	6	310	0.0194	18	c.98- others(33): Show c.98-3995_98-3994insGTTTTTTTTTTTTTTTTT		RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPO3_chr6_127113671_127204481	127144643	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03017.hp2 HG03195.hp1 others(2): Show HG02109.hp1 HG03017.hp2 HG03195.hp1 HG03453.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0002c0003t0003	a0001c0001t0002g0247 a0001c0001t0003g0250 a0001c0001t0008g0251 others(2): Show a0001c0001t0002g0247 a0001c0001t0003g0250 a0001c0001t0008g0251 a0001c0001t0008g0252 a0002c0003t0003g0246	5	310	0.0161	18	c.98- others(33): Show c.98-3992_98-3991insTTTTTTTTTTTTTTTTTT		RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPRY1_chr16_57181329_57245469	57202878	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00621.hp1 others(8): Show HG00558.hp1 HG00609.hp2 HG00621.hp1 HG03927.hp2 NA18948.hp1 NA18950.hp2 NA18971.hp2 NA18974.hp2 NA18981.hp1 NA18989.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011	a0001c0001t0002g0209 a0001c0001t0002g0246 a0001c0001t0003g0320 others(8): Show a0001c0001t0002g0209 a0001c0001t0002g0246 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0339 a0001c0001t0003g0353 a0001c0001t0003g0355 a0001c0001t0009g0221 a0001c0001t0011g0278	11	358	0.0307	18	c.-15 others(37): Show c.-155-1614_-155-1597dupATATATATATATATATAT		RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr16	TogoVar

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