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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RCOR1_chr14_102587649_102735561	102653957	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0194 a0001c0001t0014g0194	1	292	0.0034	-26	c.362 others(45): Show c.362-27936_362-27911delCTTTCTTTCTTTCTTTCTTTCTTTCT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RD3L_chr14_103935426_103947529	103938400	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 NA18955.hp1 NA18964.hp2 HG01168.hp1 NA18955.hp1 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	3	440	0.0068	-26	c.23 others(37): Show c.2380_*2405delTATATATATATACACACACACACACA	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		2025		chr14	TogoVar
RECK_chr9_36031913_36129455	36104314	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18968.hp2 HG04199.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0321 a0001c0001t0001g0286 a0001c0001t0001g0321	2	392	0.0051	-26	c.143 others(43): Show c.1436-827_1436-802delATATATATATATTTTTTTTTTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104316	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG03579.hp1 HG02280.hp2 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0331 a0001c0001t0007g0332 a0001c0001t0007g0333 a0001c0001t0007g0331 a0001c0001t0007g0332 a0001c0001t0007g0333	3	392	0.0077	-26	c.143 others(43): Show c.1436-825_1436-800delATATATATATTTTTTTTTTTTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP2_chr5_138434057_138451965	138450274	ATTCTTGT others(19): Show ATTCTTGTGGGTGAACAGGACAGCTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	432	0.0023	-26	c.45 others(37): Show c.4524_*4549delTTCTTGTGGGTGAACAGGACAGCTGT	REEP2	ENSG00000132563.17	transcript	ENST00000378339.7	protein_coding		3310		chr5	TogoVar
REG1A_chr2_79115488_79128409	79119187	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(99): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp2 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG02896.hp1 HG02922.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA18942.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18962.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19077.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0004g0002	102	452	0.2257	-26	c.-13 others(37): Show c.-1373_-1348delATATATATATATATATATATATATAT	REG1A	ENSG00000115386.6	transcript	ENST00000233735.2	protein_coding		1300		chr2	TogoVar
RELN_chr7_103466789_103994658	103491848	TCTCTCTC others(19): Show TCTCTCTCTCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03540.hp2 NA19240.hp2	a0001 a0020 a0001 a0020	a0001c0008 a0001c0023 a0001c0026 others(1): Show a0001c0008 a0001c0023 a0001c0026 a0020c0074	a0001c0008t0002 a0001c0008t0008 a0001c0023t0001 others(3): Show a0001c0008t0002 a0001c0008t0008 a0001c0023t0001 a0001c0026t0001 a0001c0026t0002 a0020c0074t0002	a0001c0008t0002g0034 a0001c0008t0008g0001 a0001c0023t0001g0110 others(3): Show a0001c0008t0002g0034 a0001c0008t0008g0001 a0001c0023t0001g0110 a0001c0026t0001g0128 a0001c0026t0002g0016 a0020c0074t0002g0026	6	184	0.0326	-26	c.944 others(42): Show c.9443+79_9443+104delTGTGTGTGTGTGTGTGTGAGAGAGAG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64			chr7	TogoVar
REM1_chr20_31470288_31489895	31486392	CGAGAGAG others(19): Show CGAGAGAGAGAGAGACAGAGAGAGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03579.hp2 HG02145.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0039 a0002c0002t0004g0093 a0002c0002t0004g0039 a0002c0002t0004g0093	2	344	0.0058	-26	c.19 others(37): Show c.1963_*1988delGAGAGAGAGAGAGACAGAGAGAGAGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1498		chr20	TogoVar
REM1_chr20_31470288_31489895	31486407	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01106.hp2 others(2): Show HG00738.hp1 HG01081.hp1 HG01106.hp2 HG02683.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	5	344	0.0145	-26	c.19 others(37): Show c.1978_*2003delAGAGAGAGAGAGAGAGAGAGAGAGAG	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1513		chr20	TogoVar
REPS2_chrX_16941658_17158272	16948280	AGACACTT others(19): Show AGACACTTTGTAATCTTTCACCCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	166	0.0060	-26	c.273 others(43): Show c.273+1149_273+1174delCACTTTGTAATCTTTCACCCTTTTGA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERG_chr12_15102783_15226417	15195551	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01515.hp2 others(50): Show HG00408.hp1 HG00673.hp1 HG01515.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp1 HG02135.hp1 HG02622.hp2 HG02818.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG03831.hp2 HG03942.hp2 NA18522.hp2 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18993.hp2 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19076.hp2 NA19077.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0058 others(50): Show a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0188 a0001c0001t0002g0207 a0001c0002t0001g0045 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0069 a0001c0002t0001g0114 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0176 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0210 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0237 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0259	53	300	0.1767	-26	c.61+ others(43): Show c.61+21852_61+21877delCACACACACACACACACACACACACA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RETREG3_chr17_42574515_42614374	42597907	GGCATAAG others(19): Show GGCATAAGCCACCGCGCCTGGCCAAGA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	360	0.0028	-26	c.240 others(43): Show c.240-5771_240-5746delTCTTGGCCAGGCGCGGTGGCTTATGC	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RET_chr10_43072069_43135351	43091818	CTATCAAA others(19): Show CTATCAAAAAAAAAAAAAAAAAAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0237 a0001c0001t0001g0124 a0001c0001t0001g0237	2	382	0.0052	-26	c.74- others(41): Show c.74-8640_74-8615delTATCAAAAAAAAAAAAAAAAAAAAAG	RET	ENSG00000165731.21	transcript	ENST00000355710.8	protein_coding	1/19			chr10	TogoVar
REV3L_chr6_111294033_111488218	111303675	TTTTTTTT others(19): Show TTTTTTTTTTTTTTAACAGACTATGAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02027.hp2 HG02293.hp1 others(3): Show HG00642.hp1 HG02027.hp2 HG02293.hp1 HG02602.hp1 NA20805.hp1 NA21309.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0028 a0002c0002 a0013c0028	a0002c0002t0001 a0013c0028t0001 a0002c0002t0001 a0013c0028t0001	a0002c0002t0001g0004 a0002c0002t0001g0152 a0002c0002t0001g0174 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0152 a0002c0002t0001g0174 a0002c0002t0001g0231 a0002c0002t0001g0235 a0013c0028t0001g0203	6	288	0.0208	-26	c.925 others(45): Show c.9253-3545_9253-3520delGTCATAGTCTGTTAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
RFTN1_chr3_16310845_16518699	16345818	GCGCGCGC others(19): Show GCGCGCGCGCGTGCGCGCACGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(11): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG03139.hp1 NA18979.hp2 NA18982.hp1 NA19066.hp2 NA19082.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0013 a0001c0001t0001g0072 a0001c0001t0001g0089 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0191 a0001c0001t0001g0221 a0001c0002t0002g0062 a0001c0002t0002g0081 a0001c0002t0002g0111 a0001c0002t0002g0259 a0001c0002t0005g0085 a0001c0002t0005g0214 a0001c0002t0007g0034 a0001c0002t0007g0051 a0001c0002t0011g0053	14	268	0.0522	-26	c.114 others(47): Show c.1146+12088_1146+12113delTGTGCGCGTGCGCGCACGCGCGCG CG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16363827	AGCACCAC others(19): Show AGCACCACCTTGATTCCAGGATTCTTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(126): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0006c0013 a0007c0008 a0008c0011 a0009c0010 a0010c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0005t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0010 a0003c0004t0001 a0006c0013t0001 a0007c0008t0001 a0008c0011t0001 a0009c0010t0002 a0010c0015t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 others(126): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0002t0001g0113 a0001c0002t0001g0176 a0001c0002t0002g0010 a0001c0002t0002g0016 a0001c0002t0002g0035 a0001c0002t0002g0042 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0096 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0131 a0001c0002t0002g0156 a0001c0002t0002g0179 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0199 a0001c0002t0002g0205 a0001c0002t0002g0227 a0001c0002t0002g0254 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0264 a0001c0002t0002g0266 a0001c0002t0005g0085 a0001c0002t0005g0214 a0001c0002t0007g0034 a0001c0005t0001g0116 a0001c0005t0001g0159 a0001c0005t0001g0196 a0001c0005t0001g0206 a0002c0003t0001g0134 a0002c0003t0003g0007 a0002c0003t0003g0017 a0002c0003t0003g0040 a0002c0003t0003g0049 a0002c0003t0003g0095 a0002c0003t0003g0174 a0002c0003t0003g0253 a0002c0003t0004g0036 a0002c0003t0004g0037 a0002c0003t0004g0082 a0002c0003t0004g0099 a0002c0003t0004g0104 a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0108 a0002c0003t0004g0171 a0002c0003t0004g0245 a0002c0003t0004g0249 a0002c0003t0006g0167 a0002c0003t0009g0103 a0002c0003t0010g0247 a0003c0004t0001g0032 a0006c0013t0001g0223 a0007c0008t0001g0028 a0008c0011t0001g0151 a0009c0010t0002g0117 a0010c0015t0001g0157	129	268	0.4813	-26	c.103 others(45): Show c.1031-5806_1031-5781delCAAGAATCCTGGAATCAAGGTGGTGC	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	6/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197675604	AGCAAAAA others(19): Show AGCAAAAACCAAAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	312	0.0032	-26	c.-17 others(35): Show c.-172_-147delGTTTTTTTTTTTTTTTTGGTTTTTGC	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding		18		chr2	TogoVar
RFX5_chr1_151335640_151352252	151349498	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02965.hp2 HG03486.hp2 HG02717.hp2 HG02965.hp2 HG03486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0012 a0004c0006t0004g0012	3	408	0.0074	-26	c.-24 others(37): Show c.-2445_-2420delGTGTGTGTGTGTGTGTGTGTGTGTGT	RFX5	ENSG00000143390.18	transcript	ENST00000452671.7	protein_coding		2247		chr1	TogoVar
RFX7_chr15_56082280_56248879	56179761	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0241 a0001c0001t0023g0241	1	360	0.0028	-26	c.162 others(41): Show c.162-484_162-459delGTGTGTGTGTGTGTGTGTGTGTGTGT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	2/9			chr15	TogoVar
RFX8_chr2_101392359_101480112	101394673	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG02055.hp2 HG02896.hp1 HG02897.hp2 NA18971.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0141 a0002c0002t0001g0019 a0002c0002t0001g0233 others(1): Show a0001c0001t0001g0141 a0002c0002t0001g0019 a0002c0002t0001g0233 a0002c0002t0001g0246	5	352	0.0142	-26	c.28 others(37): Show c.2849_*2874delGAAAGAAAGAAAGAAAGAAAGAAAGA	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding		2685		chr2	TogoVar
RFX8_chr2_101392359_101480112	101468991	AGTATATA others(19): Show AGTATATATATACGTATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02965.hp1 HG04115.hp1 others(2): Show HG01069.hp2 HG02965.hp1 HG04115.hp1 NA18990.hp1 NA19056.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0312 others(2): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0312 a0002c0002t0001g0297 a0003c0003t0001g0296	5	352	0.0142	-26	c.-52 others(43): Show c.-52-2117_-52-2092delCTATATATATATACGTATATATATAC	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11			chr2	TogoVar
RGL1_chr1_183800120_183933532	183805971	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	296	0.0034	-26	c.28- others(39): Show c.28-389_28-364delTTTTTTTTTTTTTTTTTTTTTTTTTT	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGL3_chr19_11389060_11424314	11405494	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02647.hp1 HG02647.hp2 others(6): Show HG00738.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03225.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0001 a0001c0003t0004 a0002c0007t0001 a0001c0003t0001 a0001c0003t0004 a0002c0007t0001	a0001c0003t0001g0095 a0001c0003t0001g0105 a0001c0003t0001g0318 others(6): Show a0001c0003t0001g0095 a0001c0003t0001g0105 a0001c0003t0001g0318 a0001c0003t0001g0319 a0001c0003t0001g0325 a0001c0003t0004g0347 a0002c0007t0001g0173 a0002c0007t0001g0174 a0002c0007t0001g0285	9	402	0.0224	-26	c.997 others(39): Show c.997-94_997-69delAAAAAAAAAAAAAAAAAAAAAAAAAA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	7/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11409868	GTTTATTG others(19): Show GTTTATTGCTGTGTAAGTTACTCTCAC	G G	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0116 a0006c0010t0001g0116	1	402	0.0025	-26	c.638 others(43): Show c.638-3030_638-3005delGTGAGAGTAACTTACACAGCAATAAA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGP1_chr9_35744287_35763585	35749035	CAGGCACC others(19): Show CAGGCACCGCCCCGGGACGGGCCCGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	438	0.0023	-26	c.-39 others(35): Show c.-392_-367delAGGCACCGCCCCGGGACGGGCCCGCA	RGP1	ENSG00000107185.10	transcript	ENST00000378078.5	protein_coding		251		chr9	TogoVar
RGPD4_chr2_107821892_107897544	107845207	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03942.hp2 HG02109.hp1 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0002 a0002c0002t0013	a0002c0002t0002g0179 a0002c0002t0013g0367 a0002c0002t0002g0179 a0002c0002t0013g0367	2	374	0.0054	-26	c.782 others(43): Show c.782+1501_782+1526delTTTTTTTTTTTTTTTTTTTTTTTTTT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS10_chr10_119494817_119547719	119519300	GTGTCTGT others(19): Show GTGTCTGTCCCCCAGCTCCTGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	393	0.0025	-26	c.256 others(43): Show c.256-3674_256-3649delGGGAGACAGGAGCTGGGGGACAGACA	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding	3/4			chr10	TogoVar
RGS10_chr10_119494817_119547719	119519699	GTGTCTGT others(19): Show GTGTCTGTCCCCCAGCTCCTGTCTCCC	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	393	0.0025	-26	c.256 others(43): Show c.256-4073_256-4048delGGGAGACAGGAGCTGGGGGACAGACA	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding	3/4			chr10	TogoVar
RGS12_chr4_3288021_3444913	3375261	GCCCTCAT others(19): Show GCCCTCATCTCCAGCCTCATCTCCAGC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp2 HG02559.hp1 NA18522.hp2	a0005 a0005	a0005c0011 a0005c0062 a0005c0011 a0005c0062	a0005c0011t0001 a0005c0062t0001 a0005c0011t0001 a0005c0062t0001	a0005c0011t0001g0139 a0005c0062t0001g0140 a0005c0011t0001g0139 a0005c0062t0001g0140	2	312	0.0064	-26	c.199 others(47): Show c.1999-11152_1999-11127delCTCATCTCCAGCCTCATCTCCAGC CC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS14_chr5_177352924_177377596	177374104	AATACTCC others(19): Show AATACTCCATTCCACTGGCCAATCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01175.hp2 others(14): Show HG00621.hp2 HG00673.hp1 HG01175.hp2 HG01934.hp1 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp2 HG03834.hp1 NA18943.hp2 NA18950.hp2 NA18951.hp1 NA18999.hp1 NA19003.hp2 NA19074.hp1 NA19087.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0166	17	418	0.0407	-26	c.20 others(37): Show c.2030_*2055delATACTCCATTCCACTGGCCAATCAGC	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding		1509		chr5	TogoVar
RGS1_chr1_192570773_192585024	192584178	TTTATCTT others(19): Show TTTATCTTTTACAGGATAGGTAACCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	492	0.0020	-26	c.48 others(37): Show c.4857_*4882delTTATCTTTTACAGGATAGGTAACCAC	RGS1	ENSG00000090104.12	transcript	ENST00000367459.8	protein_coding		4155		chr1	TogoVar
RGS20_chr8_53846795_53964303	53909209	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG02559.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0243 a0001c0001t0002g0245	2	258	0.0078	-26	c.510 others(45): Show c.510+29628_510+29653delTATATATATATATATATATATATATA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS22_chr8_99955936_100111049	100051658	AATATATA others(19): Show AATATATATTTATATATGTTTATACAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02922.hp1 others(3): Show HG01884.hp2 HG02630.hp1 HG02922.hp1 HG03139.hp1 HG06807.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0001g0103 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0001g0103 a0005c0007t0001g0113 a0005c0007t0001g0125 a0005c0007t0001g0126	6	310	0.0194	-26	c.168 others(45): Show c.1689+1118_1689+1143delATGTATAAACATATATAAATATATAT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS3_chr9_113458727_113602738	113484330	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAACCAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp1 others(15): Show HG00140.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01978.hp2 HG02145.hp1 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03540.hp2 HG04228.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0002c0008 others(1): Show a0002c0003 a0002c0004 a0002c0008 a0003c0012	a0002c0003t0002 a0002c0003t0005 a0002c0004t0006 others(2): Show a0002c0003t0002 a0002c0003t0005 a0002c0004t0006 a0002c0008t0006 a0003c0012t0002	a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 others(15): Show a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0005g0019 a0002c0003t0005g0020 a0002c0003t0005g0021 a0002c0003t0005g0022 a0002c0004t0006g0018 a0002c0004t0006g0023 a0002c0008t0006g0033 a0002c0008t0006g0034 a0003c0012t0002g0016	18	168	0.1071	-26	c.284 others(41): Show c.284+107_284+132delAAAAAAAAAAACCAAAACAAAAAAAA	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
RGS6_chr14_71927429_72571530	71981545	GGGGGGTG others(19): Show GGGGGGTGCCTCCCAGTTAGGCCGCTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02647.hp2 others(2): Show HG01243.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0017g0122 a0001c0001t0018g0014 others(2): Show a0001c0001t0001g0003 a0001c0001t0017g0122 a0001c0001t0018g0014 a0001c0001t0025g0026 a0001c0002t0001g0004	5	130	0.0385	-26	c.84+ others(43): Show c.84+16692_84+16717delCGCTCGGGGGTGCCTCCCAGTTAGGC	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72548327	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGCGCGCGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp1 HG02897.hp1 others(6): Show HG02258.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03139.hp2 NA18961.hp2 NA19003.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017	a0001c0001t0001g0068 a0001c0001t0004g0009 a0001c0001t0009g0008 others(6): Show a0001c0001t0001g0068 a0001c0001t0004g0009 a0001c0001t0009g0008 a0001c0001t0009g0113 a0001c0001t0009g0115 a0001c0001t0011g0017 a0001c0001t0013g0043 a0001c0001t0013g0128 a0001c0001t0017g0103	9	130	0.0692	-26	c.142 others(45): Show c.1422+8250_1422+8275delCGCGCGTGTGTGTGTGTGTGTGTGTG	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	241087981	TATATATA others(19): Show TATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02647.hp2 others(1): Show HG01243.hp2 HG02258.hp1 HG02647.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0003g0010	4	112	0.0357	-26	c.175 others(45): Show c.175+10659_175+10684delGTGTGTGTGTGTATATATATATATAT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241088019	CACACACA others(19): Show CACACACACATATATATATACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01168.hp1 HG01261.hp2 others(16): Show HG01071.hp2 HG01168.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02723.hp2 HG03209.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp1 NA18522.hp1 NA19000.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0034 others(16): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0002g0037 a0001c0001t0002g0074 a0001c0001t0002g0097 a0001c0001t0002g0109 a0001c0001t0003g0012 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0006g0061	19	112	0.1696	-26	c.175 others(45): Show c.175+10621_175+10646delATGTGTGTATATATATATGTGTGTGT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RHBDL2_chr1_38880807_38946830	38882329	TATATATA others(19): Show TATATATATATATATATATATATTTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	364	0.0028	-26	c.41 others(37): Show c.4149_*4174delGTAAATATATATATATATATATATAT	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding		3477		chr1	TogoVar
RHBDL2_chr1_38880807_38946830	38912900	ATATATAT others(19): Show ATATATATATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	364	0.0028	-26	c.396 others(43): Show c.396-1492_396-1467delCACACACACACACACATATATATATA	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding	3/7			chr1	TogoVar
RHCE_chr1_25357249_25425825	25379477	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02723.hp1 HG02135.hp2 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0289 a0002c0002t0001g0298 a0002c0002t0001g0289 a0002c0002t0001g0298	2	334	0.0060	-26	c.107 others(45): Show c.1074-4075_1074-4050delAAAAAAAATATATATATATATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25379479	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01070.hp2 others(16): Show HG00621.hp1 HG00621.hp2 HG01070.hp2 HG01515.hp1 HG01934.hp2 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG03654.hp2 NA18940.hp1 NA18947.hp1 NA18964.hp2 NA18978.hp1 NA18989.hp1 NA19057.hp2 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA20752.hp1	a0002 a0018 a0025 a0002 a0018 a0025	a0002c0002 a0018c0021 a0025c0028 a0002c0002 a0018c0021 a0025c0028	a0002c0002t0001 a0018c0021t0001 a0025c0028t0001 a0002c0002t0001 a0018c0021t0001 a0025c0028t0001	a0002c0002t0001g0206 a0002c0002t0001g0216 a0002c0002t0001g0222 others(16): Show a0002c0002t0001g0206 a0002c0002t0001g0216 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0237 a0002c0002t0001g0241 a0002c0002t0001g0243 a0002c0002t0001g0246 a0002c0002t0001g0254 a0002c0002t0001g0260 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0292 a0018c0021t0001g0040 a0025c0028t0001g0258	19	334	0.0569	-26	c.107 others(45): Show c.1074-4077_1074-4052delAAAAAAAAAATATATATATATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25379481	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02622.hp1 HG03486.hp1 others(3): Show HG01123.hp1 HG02622.hp1 HG03486.hp1 NA18972.hp2 NA18994.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0134 a0002c0002t0001g0229 a0002c0002t0001g0259 a0002c0002t0001g0295	6	334	0.0180	-26	c.107 others(45): Show c.1074-4079_1074-4054delAAAAAAAAAAAATATATATATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25406230	CGGGCGTG others(19): Show CGGGCGTGCGTGCGTGCGTGCGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(140): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19072.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0010 others(4): Show a0001 a0009 a0010 a0016 a0017 a0018 a0024	a0001c0001 a0001c0025 a0009c0009 others(6): Show a0001c0001 a0001c0025 a0009c0009 a0010c0015 a0010c0022 a0016c0017 a0017c0016 a0018c0021 a0024c0023	a0001c0001t0001 a0001c0025t0001 a0009c0009t0001 others(6): Show a0001c0001t0001 a0001c0025t0001 a0009c0009t0001 a0010c0015t0001 a0010c0022t0001 a0016c0017t0001 a0017c0016t0001 a0018c0021t0001 a0024c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0025t0001g0192 a0009c0009t0001g0059 a0009c0009t0001g0071 a0009c0009t0001g0072 a0009c0009t0001g0073 a0010c0015t0001g0111 a0010c0015t0001g0114 a0010c0022t0001g0140 a0016c0017t0001g0047 a0016c0017t0001g0080 a0017c0016t0001g0088 a0017c0016t0001g0089 a0018c0021t0001g0040 a0024c0023t0001g0046	143	334	0.4281	-26	c.335 others(43): Show c.335+2427_335+2452delACACACGCACGCACGCACGCACGCCC	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	2/9			chr1	TogoVar
RHCG_chr15_89466407_89501583	89470496	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	360	0.0028	-26	c.13 others(37): Show c.1358_*1383delACACACACACACACACACACACACAC	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding		910		chr15	TogoVar
RHOA_chr3_49354145_49416976	49387117	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	264	0.0038	-26	c.-2- others(43): Show c.-2-11552_-2-11527delTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOA_chr3_49354145_49416976	49393670	CTCTCTCT others(19): Show CTCTCTCTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	264	0.0038	-26	c.-2- others(43): Show c.-2-18105_-2-18080delCACACACACACACACACACAGAGAGA	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOBTB2_chr8_22994548_23025199	22996496	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02080.hp2 HG02155.hp1 others(11): Show HG00735.hp1 HG02080.hp2 HG02155.hp1 HG02293.hp1 HG02683.hp2 HG02886.hp2 HG03471.hp1 HG06807.hp1 NA18962.hp1 NA19007.hp1 NA19043.hp2 NA19066.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0020 others(8): Show a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0003g0003 a0001c0001t0003g0083 a0001c0001t0004g0013 a0001c0001t0027g0024 a0001c0002t0004g0007	14	358	0.0391	-26	c.-36 others(37): Show c.-3619_-3594delGTGTGTGTGTGTGTGTGTGTGTGTGT	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding		3051		chr8	TogoVar
RHOBTB2_chr8_22994548_23025199	22996543	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	358	0.0028	-26	c.-35 others(37): Show c.-3572_-3547delTGTGTGTGTGTGTGTGTGTGTGTGTC	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding		3004		chr8	TogoVar
RHOC_chr1_112696131_112712127	112706454	CACACACA others(19): Show CACACACACACCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	428	0.0023	-26	c.-77 others(41): Show c.-77+598_-77+623delTGTGTGTGTGTGTGTGGTGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar

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