Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RRP15_chr1_218280293_218342983	218324570	GTCGGCCA others(5): Show GTCGGCCACTGCC	G G	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	360	0.0028	-12	c.706 others(29): Show c.706-6377_706-6366delTCGGCCACTGCC		RRP15	ENSG00000067533.6	transcript	ENST00000366932.4	protein_coding	4/4						chr1	TogoVar
RRP15_chr1_218280293_218342983	218329237	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	360	0.0028	-12	c.706 others(29): Show c.706-1689_706-1678delAAAAAAAAAAAA		RRP15	ENSG00000067533.6	transcript	ENST00000366932.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
RRP1B_chr21_43654560_43701079	43672235	GCAGGCCG others(5): Show GCAGGCCGCGGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG01891.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0185 a0001c0008t0001g0192 a0001c0008t0001g0185 a0001c0008t0001g0192	2	372	0.0054	-12	c.214 others(25): Show c.214-67_214-56delCGCGGCACAGGC		RRP1B	ENSG00000160208.13	transcript	ENST00000340648.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr21	TogoVar
RRP1B_chr21_43654560_43701079	43681261	CAGATAGA others(5): Show CAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03831.hp1 NA18959.hp2 HG02027.hp1 HG03831.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0211 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0211	3	372	0.0081	-12	c.797 others(29): Show c.797-1986_797-1975delTAGATAGATAGA		RRP1B	ENSG00000160208.13	transcript	ENST00000340648.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr21	TogoVar
RRP1_chr21_43784577_43810293	43785082	GTGTGTAT others(5): Show GTGTGTATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(100): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0003c0006 a0006c0010 a0008c0013	a0001c0001t0003 a0001c0001t0007 a0001c0001t0027 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0027 a0001c0001t0029 a0001c0003t0018 a0001c0012t0003 a0003c0006t0005 a0003c0006t0006 a0006c0010t0003 a0008c0013t0030	a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0018 others(28): Show a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0007g0001 a0001c0001t0007g0040 a0001c0001t0027g0001 a0001c0001t0029g0018 a0001c0003t0018g0002 a0001c0012t0003g0017 a0003c0006t0005g0008 a0003c0006t0006g0008 a0003c0006t0006g0076 a0003c0006t0006g0077 a0003c0006t0006g0078 a0003c0006t0006g0079 a0006c0010t0003g0001 a0008c0013t0030g0052	103	394	0.2614	-12	c.-45 others(23): Show c.-4547_-4536delTGTGTATATATA		RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding					4494		chr21	TogoVar
RRP1_chr21_43784577_43810293	43785086	GTATATAT others(5): Show GTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02280.hp1 others(15): Show HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0005 a0010c0016 a0001c0005 a0010c0016	a0001c0005t0005 a0001c0005t0006 a0001c0005t0014 others(1): Show a0001c0005t0005 a0001c0005t0006 a0001c0005t0014 a0010c0016t0021	a0001c0005t0005g0005 a0001c0005t0005g0016 a0001c0005t0005g0029 others(4): Show a0001c0005t0005g0005 a0001c0005t0005g0016 a0001c0005t0005g0029 a0001c0005t0005g0085 a0001c0005t0006g0029 a0001c0005t0014g0016 a0010c0016t0021g0087	18	394	0.0457	-12	c.-45 others(23): Show c.-4543_-4532delTATATATATATA		RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding					4490		chr21	TogoVar
RRP1_chr21_43784577_43810293	43789361	GAGGCGCA others(5): Show GAGGCGCAGGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02257.hp2 HG02886.hp1 others(2): Show HG00621.hp2 HG02257.hp2 HG02886.hp1 HG03130.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0031 a0001c0001t0003 a0001c0001t0010 a0001c0001t0031	a0001c0001t0003g0001 a0001c0001t0010g0033 a0001c0001t0031g0106 a0001c0001t0003g0001 a0001c0001t0010g0033 a0001c0001t0031g0106	5	394	0.0127	-12	c.-26 others(21): Show c.-268_-257delAGGCGCAGGCGC		RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding					215		chr21	TogoVar
RRP1_chr21_43784577_43810293	43794966	AGCCGGGG others(5): Show AGCCGGGGATAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	394	0.0025	-12	c.361 others(27): Show c.361-220_361-209delCGGGGATAGGGC		RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr21	TogoVar
RRP36_chr6_43016623_43034599	43021675	CGCCGGGG others(5): Show CGCCGGGGCCGGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp1 HG03516.hp2 HG00609.hp1 HG03516.hp2	a0011 a0012 a0011 a0012	a0011c0012 a0012c0013 a0011c0012 a0012c0013	a0011c0012t0001 a0012c0013t0001 a0011c0012t0001 a0012c0013t0001	a0011c0012t0001g0024 a0012c0013t0001g0008 a0011c0012t0001g0024 a0012c0013t0001g0008	2	334	0.0060	-12	c.37_ others(17): Show c.37_48delGGGGCCGGGGCC	p.Gly others(11): Show p.Gly13_Ala16del	RRP36	ENSG00000124541.7	transcript	ENST00000244496.6	protein_coding	1/7	69/1183	37/780	13/259		INFO_REALIGN_3_PRIME	chr6	TogoVar
RRP36_chr6_43016623_43034599	43022059	TGAAGGCT others(5): Show TGAAGGCTTAGTA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	334	0.0030	-12	c.130 others(27): Show c.130+278_130+289delAGGCTTAGTAGA		RRP36	ENSG00000124541.7	transcript	ENST00000244496.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
RRP7A_chr22_42503344_42524796	42504241	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	388	0.0026	-12	c.86 others(23): Show c.8657_*8668delTTTTTTTTTTTT		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding					4102		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42511434	CAAAGTGC others(5): Show CAAAGTGCTGGTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0119 a0001c0003t0119	a0001c0003t0119g0174 a0001c0003t0119g0174	1	388	0.0026	-12	c.14 others(23): Show c.1464_*1475delAACCAGCACTTT		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7				1464		chr22	TogoVar
RRS1_chr8_66424014_66435733	66425410	CGGATGGA others(5): Show CGGATGGATGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp2 others(50): Show HG00099.hp2 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02735.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03688.hp2 HG06807.hp1 NA18940.hp1 NA18944.hp2 NA18948.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18981.hp2 NA18985.hp1 NA18987.hp1 NA18999.hp2 NA19007.hp2 NA19011.hp1 NA19064.hp2 NA19067.hp1 NA19072.hp2 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0001 a0005c0007t0001 a0001c0002t0001 a0005c0007t0001	a0001c0002t0001g0000 a0005c0007t0001g0000 a0001c0002t0001g0000 a0005c0007t0001g0000	53	426	0.1244	-12	c.-37 others(23): Show c.-3721_-3710delGGATGGATGGAT		RRS1	ENSG00000179041.4	transcript	ENST00000320270.4	protein_coding					3603		chr8	TogoVar
RS1_chrX_18634688_18677108	18658780	TTCATCAT others(5): Show TTCATCATCATCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03540.hp1 HG02257.hp2 HG02717.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0002c0003t0006 a0001c0001t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0013 a0002c0003t0003g0274 a0002c0003t0006g0275 a0001c0001t0001g0013 a0002c0003t0003g0274 a0002c0003t0006g0275	3	308	0.0097	-12	c.53- others(27): Show c.53-1127_53-1116delTGATGATGATGA		RS1	ENSG00000102104.9	transcript	ENST00000379984.4	protein_coding	1/5						chrX	TogoVar
RS1_chrX_18634688_18677108	18659564	GTGGCTAC others(5): Show GTGGCTACCGTAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	308	0.0033	-12	c.53- others(27): Show c.53-1911_53-1900delGTACGGTAGCCA		RS1	ENSG00000102104.9	transcript	ENST00000379984.4	protein_coding	1/5						chrX	TogoVar
RS1_chrX_18634688_18677108	18663032	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(90): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG03041.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18943.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp2 NA18988.hp1 NA18992.hp2 NA18999.hp1 NA19001.hp1 NA19011.hp1 NA19043.hp1 NA19063.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19083.hp1 NA19087.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0030 a0001c0001t0032 a0001c0001t0037 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0023 others(89): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0290 a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0099 a0001c0001t0002g0136 a0001c0001t0002g0150 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0266 a0001c0001t0002g0279 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0141 a0001c0001t0003g0180 a0001c0001t0003g0193 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0230 a0001c0001t0003g0262 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0280 a0001c0001t0004g0300 a0001c0001t0005g0205 a0001c0001t0006g0170 a0001c0001t0007g0229 a0001c0001t0012g0194 a0001c0001t0012g0273 a0001c0001t0030g0162 a0001c0001t0032g0163 a0001c0001t0037g0281 a0001c0002t0001g0135 a0001c0002t0004g0292 a0001c0002t0005g0142	93	308	0.3020	-12	c.53- others(27): Show c.53-5379_53-5368delAAAAAAAAAAAA		RS1	ENSG00000102104.9	transcript	ENST00000379984.4	protein_coding	1/5						chrX	TogoVar
RSBN1L_chr7_77691459_77788022	77709152	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19066.hp2 NA19090.hp1 NA18998.hp1 NA19066.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0086 a0001c0001t0002g0099 a0001c0001t0002g0076 a0001c0001t0002g0086 a0001c0001t0002g0099	3	336	0.0089	-12	c.586 others(31): Show c.586+12131_586+12142delGTGTGTGTGTGT		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1_chr1_113756832_113817476	113799565	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	340	0.0029	-12	c.704 others(29): Show c.704-1541_704-1530delGTGTGTGTGTGT		RSBN1	ENSG00000081019.14	transcript	ENST00000261441.9	protein_coding	1/6						chr1	TogoVar
RSF1_chr11_77655009_77825722	77658011	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00558.hp2 others(63): Show HG00099.hp2 HG00140.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 NA18955.hp1 NA18963.hp1 NA18964.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19030.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0005c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0040 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0040 a0001c0001t0041 a0001c0001t0054 a0002c0003t0002 a0002c0003t0012 a0002c0003t0021 a0002c0003t0050 a0003c0004t0002 a0005c0006t0012	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0108 others(63): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0306 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0125 a0001c0001t0006g0127 a0001c0001t0040g0117 a0001c0001t0041g0249 a0001c0001t0054g0146 a0002c0003t0002g0099 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0228 a0002c0003t0002g0230 a0002c0003t0002g0233 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0238 a0002c0003t0002g0239 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0301 a0002c0003t0002g0345 a0002c0003t0002g0346 a0002c0003t0002g0347 a0002c0003t0002g0348 a0002c0003t0012g0222 a0002c0003t0021g0209 a0002c0003t0021g0212 a0002c0003t0050g0213 a0003c0004t0002g0225 a0005c0006t0012g0001 a0005c0006t0012g0002	66	352	0.1875	-12	c.88 others(23): Show c.8894_*8905delTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding					1997		chr11	TogoVar
RSF1_chr11_77655009_77825722	77671138	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03041.hp1 HG02135.hp1 HG03041.hp1	a0004 a0012 a0004 a0012	a0004c0005 a0012c0011 a0004c0005 a0012c0011	a0004c0005t0020 a0012c0011t0007 a0004c0005t0020 a0012c0011t0007	a0004c0005t0020g0200 a0012c0011t0007g0179 a0004c0005t0020g0200 a0012c0011t0007g0179	2	352	0.0057	-12	c.375 others(29): Show c.3751+892_3751+903delATATATATATAT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77693764	CATTTATT others(5): Show CATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(78): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18972.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19068.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0002 a0001c0009 a0007c0018 others(1): Show a0001c0002 a0001c0009 a0007c0018 a0009c0008	a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 others(15): Show a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0009t0036 a0007c0018t0032 a0009c0008t0003	a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 others(78): Show a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0010g0013 a0001c0002t0010g0350 a0001c0002t0010g0351 a0001c0002t0014g0009 a0001c0002t0014g0011 a0001c0002t0015g0051 a0001c0002t0015g0074 a0001c0002t0016g0005 a0001c0002t0016g0008 a0001c0002t0017g0006 a0001c0002t0017g0007 a0001c0002t0018g0046 a0001c0002t0018g0065 a0001c0002t0024g0026 a0001c0002t0024g0031 a0001c0002t0029g0017 a0001c0002t0030g0085 a0001c0002t0031g0075 a0001c0002t0033g0012 a0001c0002t0034g0010 a0001c0002t0035g0057 a0001c0002t0037g0060 a0001c0009t0036g0015 a0007c0018t0032g0014 a0009c0008t0003g0034	81	352	0.2301	-12	c.271 others(29): Show c.2716-165_2716-154delAAATAAATAAAT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	7/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77729895	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02602.hp2 HG02818.hp1 others(2): Show HG02451.hp1 HG02602.hp2 HG02818.hp1 HG03195.hp1 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0023 a0001c0001t0040 others(1): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0040 a0005c0006t0012	a0001c0001t0002g0306 a0001c0001t0023g0275 a0001c0001t0040g0117 others(2): Show a0001c0001t0002g0306 a0001c0001t0023g0275 a0001c0001t0040g0117 a0005c0006t0012g0001 a0005c0006t0012g0002	5	352	0.0142	-12	c.579 others(29): Show c.579-4208_579-4197delTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77737619	GGGGTGTG others(5): Show GGGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0003 a0001c0001t0002g0004	2	352	0.0057	-12	c.578 others(29): Show c.578+3100_578+3111delACACACACACCC		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77774573	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 NA19240.hp1 HG02055.hp2 HG02630.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0033 a0001c0002t0010 a0001c0002t0033	a0001c0002t0010g0350 a0001c0002t0010g0351 a0001c0002t0033g0012 a0001c0002t0010g0350 a0001c0002t0010g0351 a0001c0002t0033g0012	3	352	0.0085	-12	c.188 others(29): Show c.188-9896_188-9885delATTTATTTATTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77788142	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19240.hp2 HG04115.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0018 a0001c0001 a0007c0018	a0001c0001t0004 a0007c0018t0032 a0001c0001t0004 a0007c0018t0032	a0001c0001t0004g0246 a0007c0018t0032g0014 a0001c0001t0004g0246 a0007c0018t0032g0014	2	352	0.0057	-12	c.188 others(31): Show c.188-23465_188-23454delTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15						chr11	TogoVar
RSPH10B2_chr7_6749103_6803765	6755614	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18961.hp2 HG02895.hp2 NA18961.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0086 a0004c0004t0001g0003 a0001c0001t0002g0086 a0004c0004t0001g0003	2	108	0.0185	-12	c.-20 others(31): Show c.-206+1460_-206+1471delAAAAAAAAAAAA		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6776873	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0106 a0002c0012t0002g0106	1	108	0.0093	-12	c.141 others(29): Show c.1414+370_1414+381delCACACACACACA		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6785142	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp1 NA18747.hp2 HG02818.hp2 HG02895.hp1 NA18747.hp2	a0000 a0003 a0000 a0003	a0000c0027 a0000c0028 a0003c0003 a0000c0027 a0000c0028 a0003c0003	a0000c0027t0005 a0000c0028t0005 a0003c0003t0001 a0000c0027t0005 a0000c0028t0005 a0003c0003t0001	a0000c0027t0005g0013 a0000c0028t0005g0005 a0003c0003t0001g0017 a0000c0027t0005g0013 a0000c0028t0005g0005 a0003c0003t0001g0017	3	108	0.0278	-12	c.175 others(29): Show c.1759-768_1759-757delGTGTGTGTGTGT		RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5927022	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0014 a0004c0018t0001g0014	1	70	0.0143	-12	c.243 others(29): Show c.2433-486_2433-475delACACACACACAC		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	20/20						chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5927733	CGAGACCA others(5): Show CGAGACCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0028 a0005c0003t0001g0028	1	70	0.0143	-12	c.243 others(29): Show c.2432+451_2432+462delCAGGCTGGTCTC		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	20/20						chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5940939	AATAATTA others(5): Show AATAATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01071.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0006 a0001c0010t0004 a0001c0001t0006 a0001c0010t0004	a0001c0001t0006g0013 a0001c0010t0004g0056 a0001c0010t0004g0057 a0001c0001t0006g0013 a0001c0010t0004g0056 a0001c0010t0004g0057	3	70	0.0429	-12	c.175 others(31): Show c.1759-2122_1759-2111delAATAATAATTAT		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	15/20						chr7	TogoVar
RSPH14_chr22_23054415_23146990	23130072	AAAGAAAG others(5): Show AAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0181 a0009c0012t0001g0181	1	314	0.0032	-12	c.421 others(29): Show c.421+3942_421+3953delCCTTTCTTTCTT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130084	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp1 others(10): Show HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01258.hp1 HG02055.hp1 HG03491.hp2 HG04228.hp2 NA18947.hp2 NA18983.hp1 NA19030.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0001g0007 a0001c0002t0001g0022 a0001c0002t0001g0028 others(10): Show a0001c0002t0001g0007 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0130 a0001c0002t0002g0012 a0002c0003t0001g0116	13	314	0.0414	-12	c.421 others(29): Show c.421+3930_421+3941delTCTTTCTTTCTT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar
RSPH14_chr22_23054415_23146990	23143292	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 homoSapiens_chm13v2.hp1 HG01255.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0013 a0001c0002 a0007c0013	a0001c0002t0001 a0007c0013t0001 a0001c0002t0001 a0007c0013t0001	a0001c0002t0001g0033 a0007c0013t0001g0035 a0001c0002t0001g0033 a0007c0013t0001g0035	2	314	0.0064	-12	c.-14 others(23): Show c.-1408_-1397delATTTATTTATTT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding					1303		chr22	TogoVar
RSPH14_chr22_23054415_23146990	23143322	AATAAATA others(5): Show AATAAATAAATAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG03540.hp2 HG01255.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0282 a0001c0001t0001g0159 a0001c0001t0001g0282	2	314	0.0064	-12	c.-14 others(23): Show c.-1438_-1427delCTATTTATTTAT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding					1333		chr22	TogoVar
RSPH1_chr21_42467486_42501224	42493476	ACCTCCCC others(5): Show ACCTCCCCGTTTG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	408	0.0025	-12	c.55- others(25): Show c.55-409_55-398delCAAACGGGGAGG		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	1/8						chr21	TogoVar
RSPH3_chr6_158967871_159005202	158984434	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02647.hp2 others(8): Show HG02451.hp1 HG02451.hp2 HG02647.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0002 a0003c0011 a0004c0003 others(1): Show a0002c0002 a0003c0011 a0004c0003 a0008c0010	a0002c0002t0002 a0003c0011t0009 a0004c0003t0013 others(1): Show a0002c0002t0002 a0003c0011t0009 a0004c0003t0013 a0008c0010t0002	a0002c0002t0002g0013 a0002c0002t0002g0158 a0002c0002t0002g0159 others(5): Show a0002c0002t0002g0013 a0002c0002t0002g0158 a0002c0002t0002g0159 a0003c0011t0009g0139 a0003c0011t0009g0142 a0004c0003t0013g0223 a0004c0003t0013g0224 a0008c0010t0002g0032	11	302	0.0364	-12	c.347 others(27): Show c.347-639_347-628delTATATATATATA		RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7						chr6	TogoVar
RSPH6A_chr19_45790713_45820308	45800730	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0139 a0001c0001t0001g0156	2	424	0.0047	-12	c.179 others(29): Show c.1799-179_1799-168delTGTGTGTGTGTG		RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	4/5						chr19	TogoVar
RSPH6A_chr19_45790713_45820308	45806670	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01070.hp2 others(28): Show HG00140.hp2 HG00280.hp2 HG01070.hp2 HG01261.hp2 HG02080.hp1 HG02165.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03225.hp1 NA18522.hp1 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18955.hp2 NA18962.hp2 NA18972.hp2 NA18978.hp1 NA18984.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 others(22): Show a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0218 a0001c0001t0001g0261 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0046 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0337	31	424	0.0731	-12	c.889 others(29): Show c.889-1666_889-1655delTTTTTTTTTTTT		RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	2/5						chr19	TogoVar
RSPH6A_chr19_45790713_45820308	45817417	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG02055.hp2 others(7): Show HG00738.hp2 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02615.hp1 HG02809.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0072 a0001c0001t0001g0073 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0003t0001g0017 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180	10	424	0.0236	-12	c.-22 others(23): Show c.-2253_-2242delAAAAAAAAAAAA		RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding					2110		chr19	TogoVar
RSPO1_chr1_37606350_37639892	37620629	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG01257.hp2 others(4): Show HG00280.hp2 HG00597.hp2 HG01257.hp2 HG01258.hp1 HG02135.hp2 HG02683.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0169 others(2): Show a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0180	7	422	0.0166	-12	c.95- others(27): Show c.95-3966_95-3955delATTATTATTATT		RSPO1	ENSG00000169218.14	transcript	ENST00000356545.7	protein_coding	3/6						chr1	TogoVar
RSPO2_chr8_107894316_108088620	107982003	CAACAACA others(5): Show CAACAACAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02451.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0008g0219 a0001c0001t0008g0220	2	240	0.0083	-12	c.283 others(29): Show c.283+7041_283+7052delTTTTTTGTTGTT		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	3/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	107982006	CAACAAAA others(5): Show CAACAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0015 a0001c0001t0002 a0001c0004t0015	a0001c0001t0002g0096 a0001c0004t0015g0005 a0001c0001t0002g0096 a0001c0004t0015g0005	2	240	0.0083	-12	c.283 others(29): Show c.283+7038_283+7049delTTTTTTTTTGTT		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	3/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	107991249	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	240	0.0042	-12	c.95- others(27): Show c.95-2017_95-2006delGTGTGTGTGTGT		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	107992174	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	240	0.0042	-12	c.95- others(27): Show c.95-2942_95-2931delGTGTGTGTGTGT		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003243	ATGTATGT others(5): Show ATGTATGTATGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02622.hp2 others(7): Show HG02258.hp1 HG02451.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02896.hp1 HG03209.hp1 HG03225.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0003c0003t0023	a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0129 others(7): Show a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0005g0227 a0001c0001t0008g0217 a0001c0001t0008g0219 a0001c0001t0008g0220 a0003c0003t0023g0233	10	240	0.0417	-12	c.95- others(29): Show c.95-14011_95-14000delCACATACATACA		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003309	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	240	0.0042	-12	c.95- others(29): Show c.95-14077_95-14066delAAAAAAAAAATA		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003311	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp2 HG03688.hp2 HG02572.hp1 HG03098.hp2 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0002g0209 a0001c0001t0005g0237 a0002c0002t0001g0094 a0001c0001t0002g0209 a0001c0001t0005g0237 a0002c0002t0001g0094	3	240	0.0125	-12	c.95- others(29): Show c.95-14079_95-14068delAAAAAAAAAAAA		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	108034756	AAAGCTAC others(5): Show AAAGCTACGTGAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	240	0.0042	-12	c.95- others(29): Show c.95-45524_95-45513delATCACGTAGCTT		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	108057055	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02486.hp1 others(15): Show HG01243.hp1 HG02258.hp2 HG02486.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03831.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0003c0003t0023	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0208 others(15): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0002g0059 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0003g0012 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0005g0236 a0001c0001t0005g0240 a0002c0002t0001g0044 a0003c0003t0023g0233	18	240	0.0750	-12	c.94+ others(29): Show c.94+25478_94+25489delTTTTTTTTTTTT		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar

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