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
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00609.hp2 others(16): Show HG00099.hp2 HG00423.hp2 HG00609.hp2 HG01106.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG02040.hp1 HG02083.hp1 HG03831.hp1 NA18940.hp1 NA18948.hp2 NA18965.hp1 NA18974.hp1 NA19005.hp1 NA19057.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011	19	374	0.0508	15	c.-23 others(26): Show c.-2342_-2341insATATATATTTTTTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00673.hp1 others(14): Show HG00140.hp2 HG00639.hp1 HG00673.hp1 HG01109.hp2 HG01192.hp1 HG01346.hp2 HG01943.hp2 HG02004.hp1 HG02015.hp1 NA18941.hp1 NA18948.hp1 NA18964.hp1 NA18979.hp2 NA19004.hp2 NA19012.hp1 NA19066.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0058	17	374	0.0455	15	c.-23 others(26): Show c.-2342_-2341insATATATATATTTTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAAAAT others(8): Show AAAAAAATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	374	0.0027	15	c.-23 others(26): Show c.-2342_-2341insATACATATATTTTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAATAT others(8): Show AAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18967.hp2 NA18970.hp1 others(2): Show HG02165.hp2 NA18967.hp2 NA18970.hp1 NA19058.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	374	0.0134	15	c.-23 others(26): Show c.-2342_-2341insATATATATATATTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHNO1_chr12_2872223_2894524	2874581	C C	CATAGAAG others(8): Show CATAGAAGGTGCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	426	0.0024	15	c.-27 others(26): Show c.-2786_-2785insATAGAAGGTGCTCCT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding		2641		chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883509	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp1 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0184 a0001c0002t0007g0185 a0001c0002t0007g0184 a0001c0002t0007g0185	2	426	0.0047	15	c.-84 others(32): Show c.-84-1773_-84-1772insTTTTTTTTTTTTTTT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883511	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	426	0.0024	15	c.-84 others(32): Show c.-84-1771_-84-1770insATATATATATATTTT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883511	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0016 a0005c0007t0016	a0005c0007t0016g0183 a0005c0007t0016g0183	1	426	0.0024	15	c.-84 others(32): Show c.-84-1771_-84-1770insATATTTTTTTTTTTT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883512	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01168.hp1 others(10): Show HG00639.hp2 HG01081.hp2 HG01168.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG03942.hp2 NA18946.hp1 NA18947.hp1 NA18995.hp1 NA19001.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(9): Show a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0275 a0001c0002t0001g0280 a0001c0002t0005g0042 a0001c0002t0005g0043 a0001c0002t0005g0196	13	426	0.0305	15	c.-84 others(32): Show c.-84-1771_-84-1770insATATATATATATATA	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2			chr12	TogoVar
RHOA_chr3_49354145_49416976	49367342	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01192.hp1 others(14): Show HG00280.hp2 HG00609.hp2 HG01192.hp1 HG02055.hp2 HG02129.hp2 HG02300.hp2 HG02523.hp2 HG03098.hp2 HG03471.hp2 HG03579.hp2 HG04115.hp2 NA18940.hp2 NA18944.hp2 NA18975.hp1 NA19062.hp1 NA19065.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0146 others(14): Show a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0261 a0001c0001t0004g0157	17	264	0.0644	15	c.277 others(32): Show c.277+1071_277+1085dupTTTTTTTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	3/4			chr3	TogoVar
RHOA_chr3_49354145_49416976	49387117	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	264	0.0038	15	c.-2- others(32): Show c.-2-11541_-2-11527dupTTTTTTTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOA_chr3_49354145_49416976	49401041	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG01516.hp2 others(10): Show HG00099.hp1 HG00544.hp1 HG01516.hp2 HG02602.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG03831.hp2 NA18940.hp2 NA18951.hp2 NA18952.hp1 NA18963.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0262	13	264	0.0492	15	c.-3+ others(32): Show c.-3+10764_-3+10778dupTTTTTTTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG02451.hp2 others(2): Show HG00609.hp1 HG00621.hp2 HG02451.hp2 HG02970.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0000 a0001c0001t0028g0000 a0001c0001t0001g0000 a0001c0001t0028g0000	5	368	0.0136	15	c.-48 others(26): Show c.-4898_-4897insTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOD_chr11_67051847_67077017	67058027	C C	CTCAGTGT others(8): Show CTCAGTGTTTTGGATT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	394	0.0025	15	c.132 others(30): Show c.132+995_132+996insAGTGTTTTGGATTTC	RHOD	ENSG00000173156.7	transcript	ENST00000308831.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
RHOG_chr11_3821978_3845959	3836902	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19090.hp1 NA19081.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0206 a0001c0001t0001g0213	2	468	0.0043	15	c.-69 others(32): Show c.-69+3977_-69+3991dupTTTTTTTTTTTTTTT	RHOG	ENSG00000177105.10	transcript	ENST00000351018.5	protein_coding	1/1			chr11	TogoVar
RHOH_chr4_40192031_40251967	40233925	C C	CAAATAAA others(8): Show CAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01433.hp1 others(19): Show HG00408.hp2 HG00597.hp2 HG01433.hp1 HG02056.hp1 HG02074.hp1 HG02293.hp2 HG02523.hp2 NA18612.hp2 NA18939.hp1 NA18960.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18978.hp2 NA18982.hp2 NA18998.hp2 NA18999.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0023 a0001c0001t0040 a0001c0001t0045	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0002g0060 a0001c0001t0003g0278 a0001c0001t0003g0283 a0001c0001t0004g0213 a0001c0001t0004g0243 a0001c0001t0004g0261 a0001c0001t0004g0284 a0001c0001t0005g0197 a0001c0001t0006g0093 a0001c0001t0018g0037 a0001c0001t0023g0066 a0001c0001t0040g0296 a0001c0001t0045g0260	22	316	0.0696	15	c.-33 others(34): Show c.-330-8764_-330-8750dupAAAATAAAATAAAAT	RHOH	ENSG00000168421.14	transcript	ENST00000381799.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
RHOH_chr4_40192031_40251967	40233943	A A	ATAAAATA others(8): Show ATAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0200 a0001c0001t0008g0200	1	316	0.0032	15	c.-33 others(34): Show c.-330-8757_-330-8756insGTAAAATAAAATAAA	RHOH	ENSG00000168421.14	transcript	ENST00000381799.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
RHOQ_chr2_46537490_46589688	46578569	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18943.hp2 HG01106.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0049 a0001c0001t0004g0011 a0001c0001t0002g0049 a0001c0001t0004g0011	2	332	0.0060	15	c.462 others(32): Show c.462+1936_462+1950dupAAAAAAAAAAAAAAA	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RHOT1_chr17_32137502_32230727	32142446	T T	TCGCCGCC others(8): Show TCGCCGCCGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0001	1	284	0.0035	15	c.-24 others(24): Show c.-247_-246insCGCCGCCGCCGCCGC	RHOT1	ENSG00000126858.19	transcript	ENST00000545287.7	protein_coding		55		chr17	TogoVar
RHOXF2B_chrX_120067264_120082690	120078484	T T	TGGGGGGA others(8): Show TGGGGGGAGTAGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(71): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01346.hp1 HG01981.hp1 HG02004.hp2 HG02074.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG04115.hp1 NA18906.hp1 NA18942.hp1 NA18947.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19059.hp1 NA19076.hp1 NA19084.hp1 NA19089.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0011 a0012 a0017 a0018	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0007c0012 a0009c0010 a0010c0013 a0011c0019 a0012c0014 a0017c0016 a0018c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0002 a0007c0012t0009 a0009c0010t0001 a0010c0013t0001 a0011c0019t0006 a0012c0014t0004 a0017c0016t0005 a0018c0017t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 others(29): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0003g0017 a0002c0002t0001g0052 a0003c0003t0001g0002 a0003c0003t0001g0015 a0003c0003t0001g0060 a0003c0003t0001g0061 a0004c0004t0001g0005 a0005c0005t0002g0007 a0005c0005t0002g0013 a0005c0005t0002g0018 a0005c0005t0002g0026 a0007c0012t0009g0056 a0009c0010t0001g0058 a0010c0013t0001g0047 a0011c0019t0006g0028 a0012c0014t0004g0023 a0017c0016t0005g0021 a0018c0017t0001g0048	74	213	0.3474	15	c.-93 others(24): Show c.-933_-932insTGCCCTACTCCCCCC	RHOXF2B	ENSG00000203989.5	transcript	ENST00000371402.5	protein_coding		795		chrX	TogoVar
RHOXF2_chrX_120153613_120170630	120157805	C C	CGCCCTAC others(8): Show CGCCCTACTCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp1 others(63): Show HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00738.hp1 HG01071.hp2 HG01099.hp1 HG01175.hp2 HG01192.hp1 HG01433.hp1 HG01928.hp1 HG01975.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18952.hp1 NA18955.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19030.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp1 NA19087.hp1 NA19087.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0010	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0007c0006 a0008c0008 a0010c0013	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(27): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0047 a0001c0001t0053 a0002c0002t0002 a0002c0002t0007 a0002c0002t0015 a0002c0002t0031 a0002c0002t0035 a0002c0002t0042 a0002c0002t0046 a0003c0003t0008 a0003c0003t0013 a0003c0003t0021 a0003c0003t0022 a0003c0003t0023 a0003c0003t0025 a0003c0003t0026 a0007c0006t0002 a0008c0008t0024 a0010c0013t0036	a0001c0001t0003g0001 a0001c0001t0004g0002 a0001c0001t0004g0024 others(40): Show a0001c0001t0003g0001 a0001c0001t0004g0002 a0001c0001t0004g0024 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0012g0002 a0001c0001t0014g0006 a0001c0001t0014g0032 a0001c0001t0019g0001 a0001c0001t0020g0051 a0001c0001t0027g0048 a0001c0001t0032g0057 a0001c0001t0033g0006 a0001c0001t0034g0006 a0001c0001t0037g0002 a0001c0001t0047g0045 a0001c0001t0053g0031 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0011 a0002c0002t0002g0022 a0002c0002t0007g0008 a0002c0002t0007g0020 a0002c0002t0007g0038 a0002c0002t0015g0025 a0002c0002t0015g0037 a0002c0002t0031g0043 a0002c0002t0035g0036 a0002c0002t0042g0008 a0002c0002t0046g0044 a0003c0003t0008g0012 a0003c0003t0008g0059 a0003c0003t0013g0013 a0003c0003t0021g0050 a0003c0003t0022g0002 a0003c0003t0023g0047 a0003c0003t0025g0028 a0003c0003t0026g0029 a0007c0006t0002g0053 a0007c0006t0002g0054 a0008c0008t0024g0021 a0010c0013t0036g0035	66	177	0.3729	15	c.-94 others(24): Show c.-946_-945insGCCCTACTCCCCCCT	RHOXF2	ENSG00000131721.6	transcript	ENST00000371388.5	protein_coding		807		chrX	TogoVar
RHO_chr3_129523639_129540344	129530533	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0080 a0001c0001t0020g0080	1	404	0.0025	15	c.362 others(30): Show c.362-343_362-342insCACACACACACACAC	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding	1/4			chr3	TogoVar
RHPN2_chr19_32973592_33069888	33031210	T T	TTTCTATT others(8): Show TTTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01069.hp2 others(15): Show HG00323.hp2 HG00609.hp2 HG01069.hp2 HG01175.hp2 HG02155.hp2 HG02523.hp2 HG02738.hp1 HG02895.hp1 NA18941.hp2 NA18952.hp1 NA18964.hp2 NA18965.hp1 NA19003.hp1 NA19010.hp2 NA19079.hp1 NA19091.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0017 a0006c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0003t0002 a0001c0005t0001 a0001c0017t0002 a0006c0009t0002	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0200 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0004g0151 a0001c0001t0004g0309 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0242 a0001c0003t0002g0253 a0001c0005t0001g0060 a0001c0005t0001g0270 a0001c0017t0002g0002 a0006c0009t0002g0164	18	326	0.0552	15	c.186 others(32): Show c.186-4593_186-4579dupTAGAATAGAATAGAA	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	2/14			chr19	TogoVar
RIBC2_chr22_45408693_45437509	45410786	C C	CGGAAACT others(8): Show CGGAAACTAGCCACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	424	0.0024	15	c.-31 others(26): Show c.-3101_-3100insGGAAACTAGCCACCG	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding		2906		chr22	TogoVar
RIBC2_chr22_45408693_45437509	45421550	A A	ATAATAAT others(8): Show ATAATAATAGTATTAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02683.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG02683.hp1 HG03704.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0091 a0002c0002t0002g0019 a0002c0002t0002g0091	5	424	0.0118	15	c.557 others(30): Show c.557-716_557-702dupGTATTATTAATAATA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RIBC2_chr22_45408693_45437509	45421565	T T	TTAATAAT others(8): Show TTAATAATATTAATAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	424	0.0024	15	c.557 others(30): Show c.557-717_557-716insTTAATAATAATAATA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RIBC2_chr22_45408693_45437509	45429548	G G	GACCAGGG others(8): Show GACCAGGGCATGACGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	424	0.0024	15	c.904 others(32): Show c.904-1352_904-1351insACCAGGGCATGACGA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	5/6			chr22	TogoVar
RIC1_chr9_5624107_5781557	5647980	G G	GTGGTGGT others(8): Show GTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18966.hp1 HG02273.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0257 a0001c0002t0002g0258 a0001c0001t0004g0257 a0001c0002t0002g0258	2	328	0.0061	15	c.145 others(32): Show c.145-8590_145-8589insGATGGTGGTGGTGGT	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RIC3_chr11_8101056_8174025	8151585	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG02109.hp1 others(11): Show HG00639.hp2 HG00741.hp2 HG02109.hp1 HG02886.hp1 HG03041.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0002t0014 a0001c0001t0006 a0001c0002t0003 a0001c0002t0014	a0001c0001t0006g0005 a0001c0001t0006g0086 a0001c0001t0006g0087 others(10): Show a0001c0001t0006g0005 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0002t0003g0068 a0001c0002t0003g0072 a0001c0002t0003g0292 a0001c0002t0014g0069	14	370	0.0378	15	c.125 others(34): Show c.125-11393_125-11392insTTTTTTTTTTTTTTT	RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	1/5			chr11	TogoVar
RIC8B_chr12_106769682_106894316	106803215	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02683.hp1 HG02615.hp2 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0306 a0001c0002t0009g0307 a0001c0002t0009g0306 a0001c0002t0009g0307	2	318	0.0063	15	c.133 others(34): Show c.133-11472_133-11458dupAAAAAAAAAAAAAAA	RIC8B	ENSG00000111785.21	transcript	ENST00000392837.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
RICTOR_chr5_38932920_39079399	38994451	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19006.hp2 HG02155.hp2 NA19006.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0013c0016t0001 a0001c0001t0001 a0013c0016t0001	a0001c0001t0001g0138 a0013c0016t0001g0148 a0001c0001t0001g0138 a0013c0016t0001g0148	2	338	0.0059	15	c.456 others(32): Show c.456+2367_456+2368insCTTTTTTTTTTTTTT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	6/37			chr5	TogoVar
RIF1_chr2_151404902_151487172	151408158	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0069 a0001c0003t0069	a0001c0003t0069g0269 a0001c0003t0069g0269	1	380	0.0026	15	c.-18 others(26): Show c.-1886_-1885insTATATATATATATAT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding		1743		chr2	TogoVar
RIF1_chr2_151404902_151487172	151408162	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03516.hp2 HG02615.hp1 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0004 a0003c0005t0007 a0002c0001t0004 a0003c0005t0007	a0002c0001t0004g0020 a0003c0005t0007g0296 a0002c0001t0004g0020 a0003c0005t0007g0296	2	380	0.0053	15	c.-18 others(26): Show c.-1882_-1881insTATATATATATATAT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding		1739		chr2	TogoVar
RIF1_chr2_151404902_151487172	151408164	A A	AAAAATAT others(8): Show AAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0273 a0001c0007t0023g0273	1	380	0.0026	15	c.-18 others(26): Show c.-1880_-1879insAAAATATATATATAT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding		1737		chr2	TogoVar
RIF1_chr2_151404902_151487172	151426168	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03492.hp2 HG04204.hp2 others(11): Show HG02056.hp2 HG03492.hp2 HG04204.hp2 NA18955.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18991.hp1 NA18992.hp2 NA18998.hp2 NA19011.hp1 NA19068.hp1 NA19081.hp2 NA19086.hp2	a0001 a0002 a0025 others(1): Show a0001 a0002 a0025 a0029	a0001c0004 a0002c0001 a0025c0040 others(1): Show a0001c0004 a0002c0001 a0025c0040 a0029c0031	a0001c0004t0005 a0001c0004t0006 a0001c0004t0045 others(4): Show a0001c0004t0005 a0001c0004t0006 a0001c0004t0045 a0001c0004t0046 a0002c0001t0010 a0025c0040t0006 a0029c0031t0006	a0001c0004t0005g0062 a0001c0004t0005g0065 a0001c0004t0005g0078 others(11): Show a0001c0004t0005g0062 a0001c0004t0005g0065 a0001c0004t0005g0078 a0001c0004t0005g0085 a0001c0004t0005g0089 a0001c0004t0005g0090 a0001c0004t0006g0055 a0001c0004t0006g0074 a0001c0004t0045g0061 a0001c0004t0046g0088 a0002c0001t0010g0066 a0002c0001t0010g0068 a0025c0040t0006g0067 a0029c0031t0006g0073	14	380	0.0368	15	c.787 others(32): Show c.787-2606_787-2592dupTTTTTTTTTTTTTTT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding	8/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIF1_chr2_151404902_151487172	151442048	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00558.hp2 others(90): Show HG00099.hp2 HG00140.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG03239.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18940.hp2 NA18947.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0010 a0013 a0015 a0017 a0018 a0027	a0001c0003 a0001c0004 a0002c0001 others(9): Show a0001c0003 a0001c0004 a0002c0001 a0003c0005 a0004c0006 a0007c0012 a0010c0017 a0013c0027 a0015c0037 a0017c0035 a0018c0029 a0027c0032	a0001c0003t0002 a0001c0003t0011 a0001c0003t0025 others(29): Show a0001c0003t0002 a0001c0003t0011 a0001c0003t0025 a0001c0003t0029 a0001c0003t0030 a0001c0003t0040 a0001c0003t0041 a0001c0003t0042 a0001c0003t0064 a0001c0003t0065 a0001c0003t0066 a0001c0003t0067 a0001c0003t0068 a0001c0003t0069 a0001c0004t0005 a0001c0004t0006 a0002c0001t0004 a0002c0001t0008 a0002c0001t0018 a0002c0001t0019 a0002c0001t0026 a0002c0001t0028 a0002c0001t0072 a0003c0005t0007 a0004c0006t0009 a0007c0012t0007 a0010c0017t0002 a0013c0027t0044 a0015c0037t0008 a0017c0035t0059 a0018c0029t0002 a0027c0032t0002	a0001c0003t0002g0002 a0001c0003t0002g0049 a0001c0003t0002g0050 others(90): Show a0001c0003t0002g0002 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0124 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0134 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0149 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0158 a0001c0003t0002g0166 a0001c0003t0002g0168 a0001c0003t0002g0171 a0001c0003t0002g0174 a0001c0003t0011g0135 a0001c0003t0011g0150 a0001c0003t0011g0152 a0001c0003t0011g0155 a0001c0003t0025g0266 a0001c0003t0025g0267 a0001c0003t0025g0268 a0001c0003t0029g0114 a0001c0003t0029g0115 a0001c0003t0030g0140 a0001c0003t0030g0141 a0001c0003t0040g0148 a0001c0003t0041g0133 a0001c0003t0042g0125 a0001c0003t0064g0259 a0001c0003t0065g0156 a0001c0003t0066g0310 a0001c0003t0067g0262 a0001c0003t0068g0261 a0001c0003t0069g0269 a0001c0004t0005g0087 a0001c0004t0006g0076 a0002c0001t0004g0036 a0002c0001t0004g0037 a0002c0001t0004g0041 a0002c0001t0008g0009 a0002c0001t0008g0032 a0002c0001t0008g0033 a0002c0001t0008g0034 a0002c0001t0008g0035 a0002c0001t0008g0038 a0002c0001t0018g0029 a0002c0001t0018g0030 a0002c0001t0018g0031 a0002c0001t0019g0007 a0002c0001t0019g0008 a0002c0001t0026g0275 a0002c0001t0028g0015 a0002c0001t0072g0003 a0003c0005t0007g0288 a0004c0006t0009g0161 a0004c0006t0009g0162 a0004c0006t0009g0163 a0004c0006t0009g0164 a0004c0006t0009g0165 a0004c0006t0009g0169 a0004c0006t0009g0170 a0007c0012t0007g0289 a0010c0017t0002g0159 a0010c0017t0002g0160 a0013c0027t0044g0051 a0015c0037t0008g0019 a0017c0035t0059g0201 a0018c0029t0002g0123 a0027c0032t0002g0167	93	380	0.2447	15	c.173 others(30): Show c.1734+81_1734+95dupTATTTTATTTTATTT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding	16/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIGI_chr9_32450302_32531196	32508239	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp1 HG01109.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0006 a0001c0001t0001 a0001c0006t0006	a0001c0001t0001g0031 a0001c0006t0006g0075 a0001c0001t0001g0031 a0001c0006t0006g0075	2	344	0.0058	15	c.107 others(32): Show c.107-7315_107-7301dupAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32508258	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG03209.hp2 others(1): Show HG02257.hp2 HG02723.hp2 HG03209.hp2 HG03579.hp2	a0003 a0003	a0003c0008 a0003c0009 a0003c0023 a0003c0008 a0003c0009 a0003c0023	a0003c0008t0012 a0003c0009t0012 a0003c0009t0025 others(1): Show a0003c0008t0012 a0003c0009t0012 a0003c0009t0025 a0003c0023t0012	a0003c0008t0012g0250 a0003c0009t0012g0245 a0003c0009t0025g0224 others(1): Show a0003c0008t0012g0250 a0003c0009t0012g0245 a0003c0009t0025g0224 a0003c0023t0012g0226	4	344	0.0116	15	c.107 others(32): Show c.107-7320_107-7319insTAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32521139	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG01070.hp2 others(20): Show HG00323.hp1 HG00597.hp1 HG01070.hp2 HG01358.hp2 HG01433.hp1 HG01981.hp2 HG02083.hp2 HG02630.hp2 HG02698.hp1 HG02965.hp2 HG03139.hp1 HG03225.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04199.hp1 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18998.hp1 NA18999.hp1 NA19060.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0007 others(1): Show a0001c0001 a0001c0002 a0002c0007 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0024 a0001c0002t0015 a0002c0007t0001 a0007c0015t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 others(20): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0003g0166 a0001c0001t0003g0192 a0001c0001t0003g0197 a0001c0001t0004g0139 a0001c0001t0004g0154 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0011g0155 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0024g0158 a0001c0002t0015g0185 a0002c0007t0001g0322 a0007c0015t0001g0186 a0007c0015t0001g0191	23	344	0.0669	15	c.106 others(32): Show c.106+4907_106+4921dupTTTTTTTTTTTTTTT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RILPL1_chr12_123465054_123538719	123516033	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01106.hp2 others(8): Show HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01346.hp2 HG02257.hp1 HG02723.hp1 HG02970.hp2 HG03139.hp2 HG04199.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0001t0014 a0001c0002t0013 others(4): Show a0001c0001t0004 a0001c0001t0014 a0001c0002t0013 a0001c0004t0005 a0001c0004t0007 a0001c0004t0031 a0002c0003t0004	a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0014g0094 others(8): Show a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0014g0094 a0001c0002t0013g0180 a0001c0004t0005g0194 a0001c0004t0005g0195 a0001c0004t0005g0197 a0001c0004t0007g0202 a0001c0004t0007g0203 a0001c0004t0031g0208 a0002c0003t0004g0181	11	210	0.0524	15	c.460 others(32): Show c.460+7447_460+7461dupTTTTTTTTTTTTTTT	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RILPL1_chr12_123465054_123538719	123536825	A A	ATTTCTTT others(8): Show ATTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(13): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG01074.hp2 HG01168.hp1 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01981.hp1 HG02523.hp1 HG02970.hp1 HG03453.hp2 HG03704.hp1 HG03704.hp2 NA19068.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0026	a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0143 others(13): Show a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0141 a0001c0002t0026g0114	16	210	0.0762	15	c.-33 others(26): Show c.-3344_-3343insAGAAAAGAAAAGAAA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3107		chr12	TogoVar
RILPL1_chr12_123465054_123538719	123536904	T T	TTCCTTTC others(8): Show TTCCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG03017.hp1 HG03139.hp2 others(1): Show HG01081.hp1 HG03017.hp1 HG03139.hp2 NA19005.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0007 a0001c0004t0029 a0001c0004t0005 a0001c0004t0007 a0001c0004t0029	a0001c0004t0005g0197 a0001c0004t0005g0207 a0001c0004t0007g0203 others(1): Show a0001c0004t0005g0197 a0001c0004t0005g0207 a0001c0004t0007g0203 a0001c0004t0029g0206	4	210	0.0191	15	c.-34 others(26): Show c.-3423_-3422insGAAAGAAAGAAAGGA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3186		chr12	TogoVar
RILPL1_chr12_123465054_123538719	123536907	C C	CTTTCTCT others(8): Show CTTTCTCTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0182 a0002c0003t0002g0182	1	210	0.0048	15	c.-34 others(26): Show c.-3426_-3425insAAAGAAAGAGAGAAA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3189		chr12	TogoVar
RILPL1_chr12_123465054_123538719	123536907	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03195.hp2 HG02622.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0165 a0002c0003t0003g0167 a0002c0003t0003g0165 a0002c0003t0003g0167	2	210	0.0095	15	c.-34 others(26): Show c.-3426_-3425insAAAGAAAGAAAGAAA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3189		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130692895	A A	ATAGGATA others(8): Show ATAGGATAGGGTAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00741.hp1 others(53): Show HG00280.hp1 HG00544.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01978.hp1 HG02071.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03195.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03834.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18964.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA19010.hp2 NA19011.hp1 NA19064.hp1 NA19064.hp2 NA19081.hp1 NA19084.hp1 NA19240.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0009 a0012 a0014 a0015 a0020	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0019 a0001c0020 a0001c0022 a0001c0029 a0001c0044 a0002c0010 a0002c0014 a0002c0035 a0003c0042 a0007c0018 a0009c0028 a0012c0036 a0014c0039 a0015c0051 a0020c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0005t0001 a0001c0007t0001 a0001c0011t0001 a0001c0019t0001 a0001c0020t0001 a0001c0022t0001 a0001c0029t0001 a0001c0044t0001 a0002c0010t0001 a0002c0014t0002 a0002c0035t0003 a0003c0042t0003 a0007c0018t0001 a0009c0028t0001 a0012c0036t0001 a0014c0039t0001 a0015c0051t0001 a0020c0043t0001	a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0098 others(53): Show a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0002g0008 a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0126 a0001c0001t0005g0006 a0001c0002t0001g0065 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0152 a0001c0002t0002g0007 a0001c0002t0002g0060 a0001c0003t0001g0058 a0001c0003t0001g0116 a0001c0003t0001g0142 a0001c0003t0001g0148 a0001c0003t0001g0150 a0001c0003t0001g0163 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0112 a0001c0004t0002g0003 a0001c0004t0002g0115 a0001c0004t0007g0053 a0001c0005t0001g0099 a0001c0005t0001g0111 a0001c0007t0001g0138 a0001c0007t0001g0149 a0001c0007t0001g0164 a0001c0011t0001g0109 a0001c0011t0001g0125 a0001c0019t0001g0089 a0001c0020t0001g0140 a0001c0022t0001g0101 a0001c0029t0001g0114 a0001c0044t0001g0108 a0002c0010t0001g0147 a0002c0014t0002g0105 a0002c0035t0003g0139 a0003c0042t0003g0068 a0007c0018t0001g0059 a0009c0028t0001g0100 a0012c0036t0001g0102 a0014c0039t0001g0090 a0015c0051t0001g0104 a0020c0043t0001g0120	56	180	0.3111	15	c.-35 others(36): Show c.-352+23312_-352+23326dupCCCTACCCTATCCTA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP3B_chr22_21378751_21394478	21380102	G G	GAGAAGGC others(8): Show GAGAAGGCAGCAGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0071 a0071	a0071c0012 a0071c0012	a0071c0012t0002 a0071c0012t0002	a0071c0012t0002g0000 a0071c0012t0002g0000	1	118	0.0085	15	c.-37 others(26): Show c.-3757_-3756insAGAAGGCAGCAGCAT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		3648		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21381775	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02004.hp1 others(3): Show HG00642.hp1 HG01884.hp1 HG02004.hp1 HG02027.hp1 HG04115.hp2 NA21309.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0052 a0076	a0002c0001 a0003c0052 a0005c0006 others(2): Show a0002c0001 a0003c0052 a0005c0006 a0052c0030 a0076c0061	a0002c0001t0003 a0002c0001t0006 a0003c0052t0005 others(3): Show a0002c0001t0003 a0002c0001t0006 a0003c0052t0005 a0005c0006t0003 a0052c0030t0003 a0076c0061t0001	a0002c0001t0003g0000 a0002c0001t0006g0000 a0003c0052t0005g0000 others(3): Show a0002c0001t0003g0000 a0002c0001t0006g0000 a0003c0052t0005g0000 a0005c0006t0003g0000 a0052c0030t0003g0000 a0076c0061t0001g0000	6	118	0.0509	15	c.-20 others(26): Show c.-2084_-2083insAAAATAAAATAAAAT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		1975		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21381775	A A	ACAAATAA others(8): Show ACAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 NA19030.hp1 others(2): Show HG02109.hp1 HG02257.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp1	a0025 a0028 a0064 others(2): Show a0025 a0028 a0064 a0069 a0070	a0025c0083 a0028c0036 a0064c0063 others(2): Show a0025c0083 a0028c0036 a0064c0063 a0069c0037 a0070c0066	a0025c0083t0001 a0028c0036t0005 a0064c0063t0001 others(2): Show a0025c0083t0001 a0028c0036t0005 a0064c0063t0001 a0069c0037t0005 a0070c0066t0002	a0025c0083t0001g0000 a0028c0036t0005g0000 a0064c0063t0001g0000 others(2): Show a0025c0083t0001g0000 a0028c0036t0005g0000 a0064c0063t0001g0000 a0069c0037t0005g0000 a0070c0066t0002g0000	5	118	0.0424	15	c.-20 others(26): Show c.-2084_-2083insCAAATAAAATAAAAT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		1975		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21393606	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0057 a0057	a0057c0035 a0057c0035	a0057c0035t0001 a0057c0035t0001	a0057c0035t0001g0000 a0057c0035t0001g0000	1	118	0.0085	15	c.48 others(26): Show c.4828_*4829insGTGTGTGTGTGTGTG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4129		chr22	TogoVar
RIMBP3C_chr22_21540666_21556461	21551866	A A	ACACACAC others(8): Show ACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	200	0.0050	15	c.-89 others(24): Show c.-891_-890insGTGTGTGTGTGTGTG	RIMBP3C	ENSG00000183246.8	transcript	ENST00000433039.2	protein_coding		406		chr22	TogoVar

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