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
PDE6B_chr4_620573_675782	632567	GGTGGGGA others(98): Show GGTGGGGATCTGTGTGGTGCTGTCTCAGGGTCACGTTGTGTGGATCCGTG TGGCACCATCTCTGGATCACCTGTGGATCTGCGTGGTGCTGTCTGGGGGT CACATT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18991.hp1 NA18612.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0185 a0001c0001t0004g0186 a0001c0001t0001g0185 a0001c0001t0004g0186	2	306	0.0065	-105	c.469 others(17): Show c.469-2067_469-1963del	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDXK_chr21_43714129_43767299	43741337	CGGGGGGG others(98): Show CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18962.hp1 HG00408.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0211 a0001c0001t0002g0132 a0001c0001t0002g0211	2	260	0.0077	-105	c.143 others(15): Show c.143-323_143-219del	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP3_chr11_389209_409908	402606	GACCCCCG others(98): Show GACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTCACC CCCGACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTC ACCCCC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp1 HG03540.hp2 others(1): Show HG03471.hp2 HG03540.hp1 HG03540.hp2 NA21309.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0004 a0003c0019 a0016c0035 a0001c0004 a0003c0019 a0016c0035	a0001c0004t0001 a0003c0019t0001 a0016c0035t0001 a0001c0004t0001 a0003c0019t0001 a0016c0035t0001	a0001c0004t0001g0176 a0001c0004t0001g0196 a0003c0019t0001g0181 others(1): Show a0001c0004t0001g0176 a0001c0004t0001g0196 a0003c0019t0001g0181 a0016c0035t0001g0180	4	207	0.0193	-105	c.173 others(17): Show c.1738-471_1738-367del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PPA1_chr10_70197835_70238429	70220953	ATAATATA others(98): Show ATAATATATATAATTTTTATATATATACTATATATATAATTTATATATAT AACATATATATAATTTATATATATAATATATATATAAATTATATATATAT ATAATT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	406	0.0025	-105	c.124 others(17): Show c.124-2241_124-2137del	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPARGC1A_chr4_23787021_23895047	23844703	CATAATAT others(98): Show CATAATATATGATATATATTATTATAATATATGATATATCATAATATATG ATATATATTATAATAATATATGATATATATTATAATAATATATGATATAT ATTATT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	336	0.0030	-105	c.235 others(19): Show c.235-13057_235-12953del	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131952147	ACTGTCTT others(98): Show ACTGTCTTAGCAGTGACTTGCGGGTGTGCAGGGGGTTTCACTGTCTTAGC AGTGACTTGCGGGTGTGCGGGGGGGTTCACTGTCTTAGCAGTGACTTGGG GGGTCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18984.hp1 HG00099.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0037 a0001c0001t0003 a0001c0003t0037	a0001c0001t0003g0164 a0001c0003t0037g0169 a0001c0001t0003g0164 a0001c0003t0037g0169	2	392	0.0051	-105	c.108 others(19): Show c.1083-3508_1083-3404del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM15_chr21_41793225_41884344	41806130	CACCACCA others(98): Show CACCACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCA CCACCACCATCACCACCACCACCATCACCATCACCATCACCATCACCACC ATCACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0284 a0001c0003t0034g0284	1	384	0.0026	-105	c.265 others(19): Show c.2653-1621_2653-1517del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41856001	CTTCCTTC others(98): Show CTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCT TCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTCC CTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0061 a0001c0003t0001g0041 a0001c0003t0001g0061	2	402	0.0050	-105	c.285 others(17): Show c.285+1070_285+1174del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRDM7_chr16_90051566_90082331	90052414	CAACCACT others(98): Show CAACCACTGCCTGGTCATTCTCTGTAGACCGGCCGGAACCACTGCCTGGT CATTCTCTGTAGACCGGCCGGAACCACTGCCTGGTGAATCTCTGTAGACC GGCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0110 a0002c0002t0003g0110	1	387	0.0026	-105	c.57 others(11): Show c.5770_*5874del	PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding		4151		chr16	TogoVar
PRDM7_chr16_90051566_90082331	90052466	TTCTCTGT others(98): Show TTCTCTGTAGACCGGCCGGAACCACTGCCTGGTGAATCTCTGTAGACCGG CCGGAACCACTGCCTGGTGAATCTCTGTAGACCGGCCGGAACCACTGCCT GGTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(105): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02735.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19087.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0011 a0013 a0019 a0022	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0011c0014 a0013c0017 a0019c0013 a0022c0018	a0001c0001t0008 a0002c0002t0002 a0003c0003t0002 others(11): Show a0001c0001t0008 a0002c0002t0002 a0003c0003t0002 a0003c0003t0003 a0003c0003t0011 a0003c0003t0021 a0003c0003t0028 a0005c0005t0002 a0005c0005t0027 a0005c0005t0036 a0011c0014t0008 a0013c0017t0002 a0019c0013t0002 a0022c0018t0002	a0001c0001t0008g0013 a0001c0001t0008g0062 a0002c0002t0002g0094 others(20): Show a0001c0001t0008g0013 a0001c0001t0008g0062 a0002c0002t0002g0094 a0003c0003t0002g0002 a0003c0003t0002g0023 a0003c0003t0002g0037 a0003c0003t0002g0039 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0003g0009 a0003c0003t0011g0090 a0003c0003t0021g0038 a0003c0003t0028g0091 a0005c0005t0002g0003 a0005c0005t0027g0088 a0005c0005t0036g0089 a0011c0014t0008g0053 a0013c0017t0002g0092 a0019c0013t0002g0117 a0022c0018t0002g0093	108	154	0.7013	-105	c.57 others(11): Show c.5718_*5822del	PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding		4099		chr16	TogoVar
PRDM7_chr16_90051566_90082331	90052711	TTCTCTGT others(98): Show TTCTCTGTAGACCGGCCGGAAGCACTGCCTGGTCATTCTCTGTAGACCGG CCGGAACCACTGCCTGGTGAATCTCTGTAGACCGGCCGGAACCACTGCCT GGTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0082 a0006c0006t0003g0082	1	388	0.0026	-105	c.54 others(11): Show c.5473_*5577del	PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding		3854		chr16	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	CTAGTGGT others(98): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01123.hp2 others(34): Show HG00140.hp1 HG00639.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01975.hp1 HG02004.hp1 HG02071.hp2 HG02273.hp1 HG02735.hp1 HG03017.hp1 HG03654.hp1 HG03704.hp2 HG04115.hp1 HG04204.hp2 NA18943.hp1 NA18955.hp1 NA18971.hp1 NA18977.hp1 NA18984.hp2 NA18989.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0026	a0001c0001t0002g0361 a0001c0001t0003g0178 a0001c0002t0001g0096 others(33): Show a0001c0001t0002g0361 a0001c0001t0003g0178 a0001c0002t0001g0096 a0001c0002t0001g0115 a0001c0002t0001g0140 a0001c0002t0001g0149 a0001c0002t0001g0161 a0001c0002t0001g0228 a0001c0002t0001g0253 a0001c0002t0001g0259 a0001c0002t0001g0281 a0001c0002t0001g0301 a0001c0002t0001g0346 a0001c0002t0001g0350 a0001c0004t0001g0057 a0001c0004t0001g0072 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0001g0246 a0001c0004t0001g0256 a0001c0004t0001g0285 a0001c0004t0001g0313 a0001c0004t0001g0360 a0001c0005t0001g0010 a0001c0005t0001g0106 a0001c0005t0001g0107 a0001c0005t0001g0186 a0001c0005t0001g0234 a0001c0005t0001g0267 a0001c0005t0001g0272 a0001c0005t0001g0277 a0001c0005t0001g0355 a0001c0005t0026g0232	37	222	0.1667	-105	c.360 others(15): Show c.360-566_360-462del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722036	GTGGTGGT others(98): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02965.hp2 others(3): Show HG01109.hp1 HG02109.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0007 a0001c0003t0007 a0001c0003t0008 others(1): Show a0001c0001t0007 a0001c0003t0007 a0001c0003t0008 a0001c0006t0007	a0001c0001t0007g0358 a0001c0003t0007g0191 a0001c0003t0007g0194 others(3): Show a0001c0001t0007g0358 a0001c0003t0007g0191 a0001c0003t0007g0194 a0001c0003t0008g0188 a0001c0003t0008g0192 a0001c0006t0007g0219	6	362	0.0166	-105	c.360 others(15): Show c.360-595_360-491del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722071	ATGGTGGT others(98): Show ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03831.hp2 HG01192.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0002 a0001c0001t0003 a0001c0006t0002	a0001c0001t0003g0162 a0001c0006t0002g0271 a0001c0001t0003g0162 a0001c0006t0002g0271	2	268	0.0075	-105	c.360 others(15): Show c.360-630_360-526del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722281	GTGGTGGT others(98): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03017.hp2 NA18939.hp2 others(4): Show HG01884.hp1 HG03017.hp2 NA18939.hp2 NA18943.hp2 NA18973.hp1 NA19058.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0003t0002 a0001c0001t0002 a0001c0001t0009 a0001c0003t0002	a0001c0001t0002g0100 a0001c0001t0002g0145 a0001c0001t0002g0148 others(4): Show a0001c0001t0002g0100 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0009g0330 a0001c0003t0002g0082 a0001c0003t0002g0286 a0001c0003t0002g0312	7	393	0.0178	-105	c.360 others(15): Show c.360-840_360-736del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKAG2_chr7_151551127_151882115	151874174	GTATATGT others(98): Show GTATATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGT ATATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTAT ATGATA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0249 a0001c0001t0033g0249	1	249	0.0040	-105	c.114 others(17): Show c.114+2228_114+2332del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798692	ATGGTGAT others(98): Show ATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0090 a0001c0002t0090	a0001c0002t0090g0119 a0001c0002t0090g0119	1	126	0.0079	-105	c.185 others(19): Show c.1855-5175_1855-5071del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123999	TTAGGGTC others(98): Show TTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCG GCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCAC GGCGAC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03139.hp1 HG03486.hp2 others(1): Show HG02155.hp1 HG03139.hp1 HG03486.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0011 a0001c0007t0001	a0001c0001t0001g0106 a0001c0001t0002g0045 a0001c0002t0011g0012 others(1): Show a0001c0001t0001g0106 a0001c0001t0002g0045 a0001c0002t0011g0012 a0001c0007t0001g0116	4	283	0.0141	-105	c.335 others(19): Show c.335-11262_335-11158del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PROZ_chr13_113153648_113177386	113154032	GGGGCGTG others(98): Show GGGGCGTGGAGGAGGCGGGGCGCGGGGGGCGGGGCGTGGGGGAGGCGGGG CGTGGGGGCGGGGCGTGGGGGGCGGGGCGTGGGGGAGGGCAGGGGCACGT GACGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0116 a0003c0005t0001g0116	1	376	0.0027	-105	c.-46 others(11): Show c.-4628_-4524del	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4615		chr13	TogoVar
PRPSAP1_chr17_76304478_76358916	76348310	TAAAAATA others(98): Show TAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCGTCTGTAATCCCAG CTACTCAGCAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGG TTGCAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	363	0.0028	-105	c.223 others(15): Show c.223+114_223+218del	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	2/9			chr17	TogoVar
PUM1_chr1_30926506_31070717	30972274	AAGGGAAG others(98): Show AAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0270 a0001c0001t0009g0270	1	160	0.0063	-105	c.150 others(19): Show c.1506+2272_1506+2376del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972362	GGGAGGGG others(98): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGAGAAGAGAAG AGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp2 HG02109.hp1 others(8): Show HG00438.hp2 HG02015.hp2 HG02109.hp1 HG02145.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG06807.hp1 NA18946.hp1 NA18951.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0012 a0001c0001 a0001c0004 a0003c0012	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0003c0012t0001	a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0075 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0181 a0001c0001t0004g0111 a0001c0001t0004g0127 a0001c0001t0004g0178 a0001c0004t0001g0073 a0001c0004t0001g0141 a0003c0012t0001g0082	11	314	0.0350	-105	c.150 others(19): Show c.1506+2184_1506+2288del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
RAB31_chr18_9703301_9867551	9815525	GCGTGTAG others(98): Show GCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03927.hp2 HG04184.hp1 others(2): Show HG03491.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0133 a0001c0001t0001g0183 a0001c0001t0002g0016 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0183 a0001c0001t0002g0016 a0001c0001t0010g0246 a0001c0001t0011g0277	5	289	0.0173	-105	c.380 others(15): Show c.380+518_380+622del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB40C_chr16_585066_634268	611799	AAGGGACA others(98): Show AAGGGACAGCCGCCTTCGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCT GGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAA GAGCAC	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	340	0.0029	-105	c.143 others(17): Show c.143-5408_143-5304del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RAB40C_chr16_585066_634268	611971	CAAGGGAC others(98): Show CAAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCC TTTGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGCATCA AGAGCA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0295 a0001c0001t0011g0295	1	276	0.0036	-105	c.143 others(17): Show c.143-5235_143-5131del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RET_chr10_43072069_43135351	43088299	GGTCATGA others(98): Show GGTCATGATGGTGAAGGTGGGGATGGTGGTGGTAGAGGCAGTGGTTGTGA TGGTGGTGATGGAGGCGGTGGTGTTAGTGGAGGTGATGGTGATGGTGGTG GTGGAA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	379	0.0026	-105	c.73+ others(17): Show c.73+11001_73+11105del	RET	ENSG00000165731.21	transcript	ENST00000355710.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
RGS12_chr4_3288021_3444913	3309029	AATGGCAG others(98): Show AATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTC GGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGA CTCGGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0006 a0004c0019t0001g0007 a0004c0019t0001g0006 a0004c0019t0001g0007	2	310	0.0065	-105	c.-10 others(19): Show c.-101-7039_-101-6935del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3412950	AGGGGCGC others(98): Show AGGGGCGCCCCCACACTGCTCACGTCAGGAGGGACGGGGGCGCCCCCACA CTGCTCGCGTCAGGAGGGACGGGGGCGCCCCCACACTGCTCGCGTCAGGA GGGACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(72): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG03041.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18939.hp1 NA18946.hp2 NA18950.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19081.hp2 NA19090.hp1 NA20752.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0013 a0020 a0022	a0001c0001 a0001c0004 a0001c0009 others(8): Show a0001c0001 a0001c0004 a0001c0009 a0001c0013 a0001c0014 a0001c0031 a0002c0026 a0004c0019 a0013c0039 a0020c0035 a0022c0034	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0009t0001 a0001c0013t0001 a0001c0014t0001 a0001c0031t0001 a0002c0026t0001 a0004c0019t0001 a0013c0039t0001 a0020c0035t0001 a0022c0034t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 others(71): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0164 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0004t0001g0135 a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0188 a0001c0004t0001g0197 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0004t0001g0231 a0001c0004t0001g0233 a0001c0004t0001g0234 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0242 a0001c0004t0001g0253 a0001c0009t0001g0116 a0001c0009t0001g0120 a0001c0009t0001g0122 a0001c0013t0001g0001 a0001c0013t0001g0066 a0001c0013t0001g0067 a0001c0013t0001g0068 a0001c0013t0001g0069 a0001c0013t0001g0070 a0001c0014t0001g0031 a0001c0014t0001g0107 a0001c0014t0001g0274 a0001c0014t0001g0283 a0001c0031t0001g0034 a0002c0026t0001g0028 a0002c0026t0001g0079 a0004c0019t0001g0006 a0004c0019t0001g0007 a0013c0039t0001g0243 a0020c0035t0001g0090 a0022c0034t0001g0036	75	310	0.2419	-105	c.202 others(17): Show c.2021-996_2021-892del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIPK1_chr6_3063494_3120187	3093828	AGCGCGCC others(98): Show AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	337	0.0030	-105	c.915 others(17): Show c.915+4174_915+4278del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF213_chr17_80255852_80403794	80313818	ATGGTGGT others(98): Show ATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGT GAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGTGATGG TGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG04204.hp1 NA19240.hp2 others(1): Show HG02559.hp2 HG04204.hp1 NA19240.hp2 NA21309.hp2	a0060 a0087 a0101 others(1): Show a0060 a0087 a0101 a0104	a0060c0111 a0087c0040 a0101c0106 others(1): Show a0060c0111 a0087c0040 a0101c0106 a0104c0085	a0060c0111t0024 a0087c0040t0002 a0101c0106t0009 others(1): Show a0060c0111t0024 a0087c0040t0002 a0101c0106t0009 a0104c0085t0003	a0060c0111t0024g0082 a0087c0040t0002g0230 a0101c0106t0009g0032 others(1): Show a0060c0111t0024g0082 a0087c0040t0002g0230 a0101c0106t0009g0032 a0104c0085t0003g0291	4	290	0.0138	-105	c.281 others(17): Show c.2811+658_2811+762del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80313908	GTGGTGAT others(98): Show GTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGA GGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGG AGGTAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0102 a0102	a0102c0127 a0102c0127	a0102c0127t0009 a0102c0127t0009	a0102c0127t0009g0062 a0102c0127t0009g0062	1	279	0.0036	-105	c.281 others(17): Show c.2811+745_2811+849del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314430	GAGGTGAT others(98): Show GAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGA GGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGG TGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01257.hp1 others(4): Show HG01069.hp1 HG01106.hp1 HG01257.hp1 HG02083.hp1 HG02148.hp1 HG03139.hp1 NA19087.hp1	a0001 a0076 a0001 a0076	a0001c0001 a0001c0071 a0001c0072 others(3): Show a0001c0001 a0001c0071 a0001c0072 a0001c0076 a0001c0125 a0076c0119	a0001c0001t0001 a0001c0001t0019 a0001c0071t0001 others(4): Show a0001c0001t0001 a0001c0001t0019 a0001c0071t0001 a0001c0072t0001 a0001c0076t0010 a0001c0125t0010 a0076c0119t0031	a0001c0001t0001g0160 a0001c0001t0019g0046 a0001c0071t0001g0052 others(4): Show a0001c0001t0001g0160 a0001c0001t0019g0046 a0001c0071t0001g0052 a0001c0072t0001g0038 a0001c0076t0010g0211 a0001c0125t0010g0070 a0076c0119t0031g0246	7	261	0.0268	-105	c.281 others(19): Show c.2811+1299_2811+1403del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
ROBO2_chr3_77035099_77654964	77289384	CATAAAGT others(98): Show CATAAAGTAAAATTGACGTTTAAACGGGGACACTGAGGCTAGATCACCCC AGAAATTAAGTAAAATTGATGGTTAAATGGGAAGTTGAGGCTAGAGCACT AAAGAT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0063 a0001c0001t0039g0063	1	160	0.0063	-105	c.389 others(21): Show c.389-188012_389-187908del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77293790	GGAAGTTG others(98): Show GGAAGTTGAGGCTAGAACAGTAAAGACATAAAGTAGAATTGATGGTTAAA CGGGTAGGCTGAGGCTAGATCACCCCAGATGTAAAGTAAAATTGACGGCT AAACGA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	160	0.0063	-105	c.389 others(21): Show c.389-183622_389-183518del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPTOR_chr17_80539838_80971368	80665331	CCCTTTCC others(98): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19068.hp2 NA20752.hp1 HG02129.hp2 NA19068.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0017 a0003c0069 a0001c0002 a0001c0017 a0003c0069	a0001c0002t0039 a0001c0017t0015 a0003c0069t0044 a0001c0002t0039 a0001c0017t0015 a0003c0069t0044	a0001c0002t0039g0091 a0001c0017t0015g0085 a0003c0069t0044g0102 a0001c0002t0039g0091 a0001c0017t0015g0085 a0003c0069t0044g0102	3	92	0.0326	-105	c.348 others(19): Show c.348+21589_348+21693del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133669108	CCCTCACC others(98): Show CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCT CACCCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0205 a0002c0020t0002g0205	1	257	0.0039	-105	c.249 others(19): Show c.2495+1371_2495+1475del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCGB1C2_chr17_132569_144067	141484	CTGGTGAG others(98): Show CTGGTGAGGGGACATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAG GGGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02717.hp2 others(2): Show HG02258.hp1 HG02559.hp2 HG02717.hp2 HG03098.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	5	75	0.0667	-105	c.25 others(11): Show c.2543_*2647del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2418		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289767	CCGTGTCT others(98): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTG CTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0052 a0009c0014t0001g0052	1	287	0.0035	-105	c.166 others(17): Show c.1663-502_1663-398del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SFSWAP_chr12_131706090_131804738	131792116	GTACTGTG others(98): Show GTACTGTGTGTGTGCACGTGTGTGTTCACGGATCGTTACTGTGTGTGCAC CCGTGTGTGTTCACAGATCATTACTGTGTGTGCGCCCGTGTGTGTTCACG GATCAT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG03225.hp2 others(1): Show HG02922.hp1 HG03130.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0018 a0001c0006 a0001c0018	a0001c0006t0001 a0001c0018t0001 a0001c0006t0001 a0001c0018t0001	a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0017 others(1): Show a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0017 a0001c0018t0001g0016	4	316	0.0127	-105	c.253 others(19): Show c.2535-5050_2535-4946del	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SHC2_chr19_411589_466033	426331	AAGAGTCC others(98): Show AAGAGTCCGGGGAGGGAGGACGACAGTGCGAGAGGCAGAGTCCGGGGAGG GAGGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACCGAG AGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0207 a0007c0025t0001g0207	1	210	0.0048	-105	c.117 others(19): Show c.1175-1205_1175-1101del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	426503	AGGCAGAG others(98): Show AGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGAGGCAGAGTCCGGGG AGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACC GAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01071.hp2 others(32): Show HG00423.hp2 HG00558.hp2 HG01071.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp1 HG02698.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18960.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA19004.hp2 NA19009.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0002t0001g0004 a0001c0002t0001g0079 a0001c0002t0001g0080 others(31): Show a0001c0002t0001g0004 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0108 a0001c0002t0001g0146 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0002t0003g0044 a0001c0002t0003g0084 a0001c0002t0003g0091 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0004g0087 a0001c0002t0004g0096 a0001c0002t0004g0107 a0001c0002t0004g0158	35	176	0.1989	-105	c.117 others(19): Show c.1175-1377_1175-1273del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	402606	GACCCCCG others(98): Show GACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTCACC CCCGACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTC ACCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG03471.hp2 others(1): Show HG02970.hp1 HG03209.hp1 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0002g0009 others(1): Show a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0002g0009 a0001c0004t0001g0192	4	231	0.0173	-105	c.31 others(11): Show c.3185_*3289del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3109		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072741	CAGCCCCC others(98): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCC CCAGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0081 a0001c0009t0010g0081	1	111	0.0090	-105	c.224 others(17): Show c.2241+787_2241+891del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A31_chr16_89190761_89205537	89196353	CCCGGCCC others(98): Show CCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCTGTGGGACAGAGTGT GTTGGGGGCAGCCAGCCTCCTGGCCCAGGAACCCGGCCCCCAGCACCAGG CCCAGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp1 others(41): Show HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01074.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG02015.hp1 HG02083.hp2 HG02132.hp1 HG02300.hp2 HG03491.hp1 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19064.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1	a0003 a0012 a0003 a0012	a0003c0005 a0012c0028 a0003c0005 a0012c0028	a0003c0005t0001 a0012c0028t0001 a0003c0005t0001 a0012c0028t0001	a0003c0005t0001g0004 a0003c0005t0001g0016 a0003c0005t0001g0043 others(3): Show a0003c0005t0001g0004 a0003c0005t0001g0016 a0003c0005t0001g0043 a0003c0005t0001g0044 a0003c0005t0001g0045 a0012c0028t0001g0063	44	426	0.1033	-105	c.103 others(16): Show c.1035-153_1035-49del	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	8/8			chr16	TogoVar
SLC26A11_chr17_80215427_80258500	80254247	CCTTTCCT others(98): Show CCTTTCCTTCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCTTTCTTTCC TTCCTTCCTTCCTTTCCTCCCTTGCTCCCTTCCTTTTCTTTCTTCCTTCC GTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02922.hp2 others(1): Show HG02280.hp1 HG02559.hp1 HG02922.hp2 HG03516.hp2	a0001 a0012 a0015 a0001 a0012 a0015	a0001c0001 a0001c0004 a0012c0021 others(1): Show a0001c0001 a0001c0004 a0012c0021 a0015c0024	a0001c0001t0007 a0001c0004t0003 a0012c0021t0017 others(1): Show a0001c0001t0007 a0001c0004t0003 a0012c0021t0017 a0015c0024t0002	a0001c0001t0007g0239 a0001c0004t0003g0247 a0012c0021t0017g0250 others(1): Show a0001c0001t0007g0239 a0001c0004t0003g0247 a0012c0021t0017g0250 a0015c0024t0002g0129	4	364	0.0110	-105	c.15 others(11): Show c.1532_*1636del	SLC26A11	ENSG00000181045.15	transcript	ENST00000361193.8	protein_coding		748		chr17	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(98): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG03688.hp2 others(1): Show HG01243.hp1 HG02895.hp1 HG03688.hp2 HG04115.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0009 a0001c0030 others(1): Show a0001c0003 a0001c0009 a0001c0030 a0005c0012	a0001c0003t0008 a0001c0009t0008 a0001c0030t0008 others(1): Show a0001c0003t0008 a0001c0009t0008 a0001c0030t0008 a0005c0012t0013	a0001c0003t0008g0152 a0001c0009t0008g0151 a0001c0030t0008g0150 others(1): Show a0001c0003t0008g0152 a0001c0009t0008g0151 a0001c0030t0008g0150 a0005c0012t0013g0054	4	35	0.1143	-105	c.212 others(17): Show c.212-3411_212-3307del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(98): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG03942.hp1 HG01515.hp1 HG01517.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0126 a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0126	3	4	0.7500	-105	c.16 others(11): Show c.1681_*1785del	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMOC2_chr6_168436184_168672992	168592961	GCTCCTCC others(98): Show GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCG AGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCC GAGCTC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp1 HG02559.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0127 a0001c0002t0002g0035 a0001c0001t0001g0127 a0001c0002t0002g0035	2	178	0.0112	-105	c.638 others(17): Show c.638-5848_638-5744del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594964	AGCTCCTC others(98): Show AGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCC GAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATGGC CGAGCT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	178	0.0056	-105	c.638 others(17): Show c.638-3853_638-3749del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168595143	GGGGCATC others(98): Show GGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCAC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	177	0.0056	-105	c.638 others(17): Show c.638-3636_638-3532del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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