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
PLCXD1_chrX_276381_308356	297911	TCACATGG others(91): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19057.hp1 HG00558.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	149	0.0134	-98	c.734 others(114): Show c.734-1089_734-992delCCCACATGGGGATTAGGACGTGGACATCT TTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTT TGGGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298107	TCACATGG others(91): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0012 a0001c0001t0043g0012	1	132	0.0076	-98	c.734 others(113): Show c.734-990_734-893delTCACATGGGGATTAGGACGTGGACATCTTT GGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTG GGGACATTATTCTGTCTC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6			chrX	TogoVar
PLCXD1_chrX_276381_308356	298107	TCACATGG others(91): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0087 a0001c0002t0087	a0001c0002t0087g0147 a0001c0002t0087g0147	1	132	0.0076	-98	c.734 others(113): Show c.734-858_734-761delACATTATTCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGATTAGG ACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298303	CCACATGG others(91): Show CCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02976.hp2 HG03098.hp1 others(5): Show HG02080.hp1 HG02976.hp2 HG03098.hp1 NA18942.hp2 NA18969.hp2 NA18988.hp1 NA18992.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 others(4): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0070 a0001c0002t0023 a0001c0004t0001	a0001c0001t0005g0035 a0001c0001t0012g0134 a0001c0001t0015g0055 others(5): Show a0001c0001t0005g0035 a0001c0001t0012g0134 a0001c0001t0015g0055 a0001c0001t0021g0108 a0001c0001t0070g0152 a0001c0002t0023g0142 a0001c0004t0001g0115 a0001c0004t0001g0118	8	151	0.0530	-98	c.734 others(113): Show c.734-760_734-663delCCATTATTCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGG ACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHA7_chr11_16772297_17019414	16907113	TGGGGGTC others(91): Show TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGAAGGGAGGTGG GGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00642.hp2 others(47): Show HG00099.hp1 HG00408.hp2 HG00642.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG02015.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03239.hp2 HG03669.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp2 NA18960.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18994.hp1 NA18999.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0023 a0001c0031 a0001c0032 a0006c0017 a0006c0045	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0005t0003 a0001c0008t0003 a0001c0009t0002 a0001c0010t0001 a0001c0010t0002 a0001c0010t0003 a0001c0010t0004 a0001c0013t0005 a0001c0023t0002 a0001c0031t0005 a0001c0032t0004 a0006c0017t0001 a0006c0045t0001	a0001c0001t0001g0087 a0001c0001t0003g0140 a0001c0001t0004g0155 others(47): Show a0001c0001t0001g0087 a0001c0001t0003g0140 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0008g0119 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0009g0160 a0001c0002t0001g0032 a0001c0002t0001g0114 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0133 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0058 a0001c0002t0002g0075 a0001c0002t0002g0123 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0145 a0001c0002t0003g0049 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0148 a0001c0003t0002g0234 a0001c0005t0003g0226 a0001c0008t0003g0026 a0001c0009t0002g0082 a0001c0010t0001g0194 a0001c0010t0001g0227 a0001c0010t0002g0198 a0001c0010t0003g0193 a0001c0010t0004g0195 a0001c0013t0005g0052 a0001c0013t0005g0065 a0001c0023t0002g0135 a0001c0031t0005g0008 a0001c0032t0004g0019 a0006c0017t0001g0027 a0006c0017t0001g0048 a0006c0045t0001g0191	50	242	0.2066	-98	c.222 others(117): Show c.222-36029_222-35932delCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCTAACCCCCCCACCTCCCTTCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCC	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHG3_chr14_64699424_64755249	64748163	TGATACCA others(91): Show TGATACCAAGACATGGCTGCGTCTGCCACCCCGAGAAAACAGATGATCAA CTTTACTGTCTGCCCAGCCATTACCCTCCAAAGTCCCAGCTGCAGACAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02647.hp1 others(3): Show HG02109.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0078 a0001c0006t0011 a0001c0006t0055 a0001c0002t0078 a0001c0006t0011 a0001c0006t0055	a0001c0002t0078g0009 a0001c0006t0011g0072 a0001c0006t0011g0073 others(3): Show a0001c0002t0078g0009 a0001c0006t0011g0072 a0001c0006t0011g0073 a0001c0006t0011g0074 a0001c0006t0011g0075 a0001c0006t0055g0153	6	246	0.0244	-98	c.44 others(109): Show c.4464_*4561delACCAAGACATGGCTGCGTCTGCCACCCCGAGAAA ACAGATGATCAACTTTACTGTCTGCCCAGCCATTACCCTCCAAAGTCCCA GCTGCAGACAGGAT	PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding	17/17	4464	INFO_REALIGN_3_PRIME	chr14	TogoVar
PLVAP_chr19_17346455_17382342	17349128	TTCTTTCT others(91): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA20805.hp1 NA18979.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0364 a0001c0001t0001g0319 a0001c0001t0001g0364	2	434	0.0046	-98	c.31 others(109): Show c.3136_*3233delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2326		chr19	TogoVar
POFUT2_chr21_45258935_45292895	45268792	ACCCCGTC others(91): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGGGCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 NA18906.hp1 HG01884.hp2 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086	3	432	0.0069	-98	c.101 others(116): Show c.1012+949_1012+1046delCGGCTGGCCGCCCGGGGTGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGG	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	7/8			chr21	TogoVar
POLE_chr12_132618762_132692342	132692035	TGCCAGTT others(91): Show TGCCAGTTAGTGAGCTCCCTGAGCCAGTTAGGTAGTGAGCTCCCTGAGCC AGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0207	1	290	0.0034	-98	c.-48 others(109): Show c.-4818_-4721delGGCTAAGGGAGCTCACTAACTAACTGGCAAGGGC GCTCACTAACTAACTGGCTCAGGGAGCTCACTACCTAACTGGCTCAGGGA GCTCACTAACTGGC	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		4694		chr12	TogoVar
POR_chr7_75910155_75991855	75952073	GGCTGGCC others(91): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp2 HG03041.hp1 others(1): Show HG01192.hp2 HG01891.hp2 HG03041.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 others(1): Show a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039	4	272	0.0147	-98	c.-13 others(115): Show c.-13-1867_-13-1770delAGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPARGC1B_chr5_149725310_149860022	149809305	GATAGATA others(91): Show GATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAG ATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02071.hp1 others(6): Show HG00738.hp1 HG01433.hp1 HG02071.hp1 HG02132.hp2 HG02273.hp2 HG03486.hp1 NA18962.hp2 NA19004.hp1 NA19088.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0013 a0002c0002 a0003c0003 a0005c0013	a0002c0002t0025 a0003c0003t0004 a0005c0013t0009 a0002c0002t0025 a0003c0003t0004 a0005c0013t0009	a0002c0002t0025g0029 a0003c0003t0004g0150 a0003c0003t0004g0177 others(6): Show a0002c0002t0025g0029 a0003c0003t0004g0150 a0003c0003t0004g0177 a0003c0003t0004g0281 a0003c0003t0004g0290 a0003c0003t0004g0291 a0003c0003t0004g0295 a0003c0003t0004g0296 a0005c0013t0009g0007	9	318	0.0283	-98	c.79- others(115): Show c.79-11101_79-11004delAGATAGATCCATCTCTACCATAGATAGA TAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGAT AGATAGATAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP2R2C_chr4_6315581_6477614	6353759	AACACCGA others(91): Show AACACCGACAGCCCCCAACACCGACAGCCCCACACACCAACAGCGCCCCC ACACCGACAGCCCCCAACACCGACAGCCCCCAACACCGACAGCCGCCCC	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0273 a0001c0002t0015g0273	1	129	0.0078	-98	c.626 others(115): Show c.626-5847_626-5750delGGGGCGGCTGTCGGTGTTGGGGGCTGTC GGTGTTGGGGGCTGTCGGTGTGGGGGCGCTGTTGGTGTGTGGGGCTGTCG GTGTTGGGGGCTGTCGGTGT	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131919797	TAGGGACC others(91): Show TAGGGACCTCAGGCGGGTGGAGTGACAGTGTTTGTAGGGACCTCAGGTGG GTGGAATGACACAGTGTTTGTAGGGACCTCATTCAGGTGGGATGACGCA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	392	0.0026	-98	c.101 others(117): Show c.101-14660_101-14563delAGGGACCTCAGGCGGGTGGAGTGACA GTGTTTGTAGGGACCTCAGGTGGGTGGAATGACACAGTGTTTGTAGGGAC CTCATTCAGGTGGGATGACGCA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8			chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101782484	CTCCCCCT others(91): Show CTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTCTCTCTCCCCCTCCCCCTC CCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0087 a0001c0003t0018g0087	1	135	0.0074	-98	c.94- others(113): Show c.94-3531_94-3434delCCCCTTCCCCTCCCTCTCTTTCCTCTTTCT CTCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCC TCTCTCTCCCCCCCTTTC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM16_chr1_3064203_3443621	3379328	GCACACCC others(91): Show GCACACCCCTCCCAGCACACCTCTCCCAACACACCCCTCCCAGCACACCC CTCCCAACACACCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0016 a0001c0004t0063g0016	1	207	0.0048	-98	c.439 others(115): Show c.439-5803_439-5706delTCTCCCAACACACCCCTCCCAGCACACC CCTCCCAACACACCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAA CACACCCCTCCCAGCACACC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122949	GGTGGTAG others(91): Show GGTGGTAGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGT GGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG02602.hp1 others(2): Show HG00639.hp2 HG00642.hp1 HG02602.hp1 HG02683.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0148 a0001c0002t0001g0167 a0001c0002t0001g0207 others(2): Show a0001c0002t0001g0148 a0001c0002t0001g0167 a0001c0002t0001g0207 a0001c0002t0001g0243 a0001c0003t0001g0266	5	274	0.0182	-98	c.335 others(117): Show c.335-12307_335-12210delAGTTAGGGTCATGGTGGTGGTTAGGG TCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCA TGGTGGTGGTTAGGGTCGTGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPN2_chr18_12787152_12889237	12874548	TCCCCGCC others(91): Show TCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00738.hp2 others(50): Show HG00099.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01993.hp2 HG02257.hp2 HG02615.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp1 HG03540.hp2 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19077.hp2 NA19084.hp1 NA19088.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0029 a0001c0004t0002	a0001c0001t0001g0006 a0001c0001t0002g0005 a0001c0001t0002g0008 others(50): Show a0001c0001t0001g0006 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0081 a0001c0001t0010g0048 a0001c0001t0014g0059 a0001c0001t0014g0082 a0001c0001t0019g0033 a0001c0001t0021g0057 a0001c0001t0025g0027 a0001c0001t0029g0370 a0001c0004t0002g0053	53	368	0.1440	-98	c.69+ others(113): Show c.69+9427_69+9524delGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGAACCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGG	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTTG1IP_chr21_44844598_44878690	44863866	GAACCTAC others(91): Show GAACCTACGCTACGGTCTCGTGGAGGAAGAAGAGTTTTTAAGAACATGGC TCATGCCTTAGAATAGAAATCATCGAATACATCTTTCCCGGCCTCCTCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03579.hp1 NA19240.hp2 HG03540.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0022 a0001c0001t0014 a0001c0001t0022	a0001c0001t0014g0261 a0001c0001t0014g0262 a0001c0001t0022g0252 a0001c0001t0014g0261 a0001c0001t0014g0262 a0001c0001t0022g0252	3	442	0.0068	-98	c.168 others(115): Show c.168+1431_168+1528delTGAGGAGGCCGGGAAAGATGTATTCGAT GATTTCTATTCTAAGGCATGAGCCATGTTCTTAAAAACTCTTCTTCCTCC ACGAGACCGTAGCGTAGGTT	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
PXDN_chr2_1626887_1749515	1720032	AGGGAGGG others(91): Show AGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAG GGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 NA18906.hp2 HG02622.hp2 HG02895.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0007 a0001c0001t0001 a0001c0001t0002 a0001c0005t0007	a0001c0001t0001g0281 a0001c0001t0002g0030 a0001c0005t0007g0079 a0001c0001t0001g0281 a0001c0001t0002g0030 a0001c0005t0007g0079	3	320	0.0094	-98	c.200 others(117): Show c.200+24126_200+24223delCCTCTCTCTCTGCATCCCTCCCTCCC TCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTC TCTCTCTCTCTGCATCCCTCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132692035	TGCCAGTT others(91): Show TGCCAGTTAGTGAGCTCCCTGAGCCAGTTAGGTAGTGAGCTCCCTGAGCC AGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	348	0.0029	-98	c.236 others(115): Show c.236+1660_236+1757delGCCAGTTAGTGAGCTCCCTGAGCCAGTT AGGTAGTGAGCTCCCTGAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTA GTTAGTGAGCTCCCTTAGCC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
PYHIN1_chr1_158926552_158982059	158928101	CACAGAAA others(91): Show CACAGAAACTAAACAAAAACCAACTCTCACATGAAAATAAATGCAAAAAC ACTTTTAAAATATTGAAAAATTATACTTACCAATATACTTATCAATATG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0050 a0001c0001t0028g0050	1	396	0.0025	-98	c.-36 others(109): Show c.-3695_-3598delACAGAAACTAAACAAAAACCAACTCTCACATGAA AATAAATGCAAAAACACTTTTAAAATATTGAAAAATTATACTTACCAATA TACTTATCAATATG	PYHIN1	ENSG00000163564.15	transcript	ENST00000368140.6	protein_coding		3450		chr1	TogoVar
RAB40C_chr16_585066_634268	631789	ACTCCTCC others(91): Show ACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCACTGCCT CTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02451.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0003g0179 a0001c0001t0003g0184	2	348	0.0057	-98	c.41 others(109): Show c.4168_*4265delCTCCTCCCATCCACTTCTTCCATCCTCTTCTCCC ACCCCGTCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCC ACTTCTTCCATCCT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2522		chr16	TogoVar
RASA3_chr13_113972783_114137623	114043897	CGCCCCGC others(91): Show CGCCCCGCCTCACTCTCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCT CCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAG	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	65	0.0154	-98	c.278 others(115): Show c.278-2901_278-2804delCTCAGCGAGTGAGGCGGGGCGGGGGGGC TCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGG CTCAGAGAGTGAGGCGGGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASGEF1C_chr5_180095795_180214211	180096164	CCCTTCCT others(91): Show CCCTTCCTGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTGTCTTCCTC CCTTCCTTCCCTCCTTCCCTCCCTCCCTTCCTTCCTGTCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0107 a0001c0003t0011g0107	1	368	0.0027	-98	c.52 others(109): Show c.5239_*5336delAAGGAAGGAAGACAGGAAGGAAGGGAGGGAGGGA AGGAGGGAAGGAAGGGAGGAAGACAGGAAGGAAGGGAGGGAGGGAGGGAA GGAAGACAGGAAGG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4630		chr5	TogoVar
RBM5_chr3_50083919_50124021	50084738	CGGGGCGG others(91): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02083.hp2 HG02622.hp2 others(8): Show HG01243.hp1 HG02083.hp2 HG02622.hp2 HG02647.hp2 HG02895.hp1 HG02896.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0002c0005t0001g0006	11	273	0.0403	-98	c.-43 others(109): Show c.-4344_-4247delGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGAG	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4180		chr3	TogoVar
RC3H2_chr9_122839556_122910359	122867873	ACCCCGTC others(91): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02280.hp1 HG02572.hp2 others(9): Show HG01069.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0182 a0001c0001t0001g0186 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0290	12	163	0.0736	-98	c.132 others(117): Show c.1326-2314_1326-2217delCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGG	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCBTB1_chr13_49526946_49590558	49589817	GACTTCTT others(91): Show GACTTCTTAGAGTGACCCTGGGATGATGATGGAGGTAGTAAGAATATTCT CAGATGGGGCTTGACTCACTCATTTGGAATATTAAAGGTGAAGTTACCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0101 a0001c0009t0001g0101	1	416	0.0024	-98	c.-45 others(109): Show c.-4593_-4496delAGGTAACTTCACCTTTAATATTCCAAATGAGTGA GTCAAGCCCCATCTGAGAATATTCTTACTACCTCCATCATCATCCCAGGG TCACTCTAAGAAGT	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding		4260		chr13	TogoVar
REM1_chr20_31470288_31489895	31471278	ACCTCCCG others(91): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0078 a0009c0008t0001g0078	1	342	0.0029	-98	c.-43 others(109): Show c.-4307_-4210delCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCT GACCCCCCCACCTC	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4009		chr20	TogoVar
RETNLB_chr3_108750638_108762410	108759483	ATATACAT others(91): Show ATATACATATATATATGTATGTATGTGTATACATACATATGTATGTATGT GTATACATACATATGTATGTATGTGTATACATACATATGTATGTATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	449	0.0022	-98	c.-23 others(109): Show c.-2396_-2299delCACATACATACATATGTATGTATACACATACATA CATATGTATGTATACACATACATACATATGTATGTATACACATACATACA TATATATATGTATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2074		chr3	TogoVar
REV3L_chr6_111294033_111488218	111422582	ATATATAT others(91): Show ATATATATATATACACATATATATATATATACACATATATATATATATAC ACATATATATATATATACATATATATATATACATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01934.hp2 others(11): Show HG00738.hp1 HG01074.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02647.hp2 HG02895.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03490.hp1 HG03704.hp1 NA18522.hp2 NA21309.hp2	a0004 a0006 a0004 a0006	a0004c0003 a0004c0023 a0006c0007 others(1): Show a0004c0003 a0004c0023 a0006c0007 a0006c0027	a0004c0003t0003 a0004c0023t0003 a0006c0007t0001 others(1): Show a0004c0003t0003 a0004c0023t0003 a0006c0007t0001 a0006c0027t0001	a0004c0003t0003g0006 a0004c0003t0003g0017 a0004c0003t0003g0020 others(11): Show a0004c0003t0003g0006 a0004c0003t0003g0017 a0004c0003t0003g0020 a0004c0003t0003g0023 a0004c0003t0003g0027 a0004c0003t0003g0028 a0004c0023t0003g0022 a0006c0007t0001g0008 a0006c0007t0001g0009 a0006c0007t0001g0011 a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0015 a0006c0027t0001g0012	14	286	0.0490	-98	c.140 others(115): Show c.140-6208_140-6111delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTGTATATATATATATATGTGTATATATATA TATATGTGTATATATATATA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RIMBP2_chr12_130391133_130721299	130679881	CGGGAAGG others(91): Show CGGGAAGGATCCGTGAGTGTGATCATGCAGGCAGTGTGTTCACCCACCGC GGGAAGGACCCGTGAGTGTGATCACGCAGGGAGTGTGTTCGCCCGCCGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0174 a0002c0009t0001g0174	1	178	0.0056	-98	c.-35 others(119): Show c.-352+36243_-352+36340delACGGCGGGCGAACACACTCCCTGC GTGATCACACTCACGGGTCCTTCCCGCGGTGGGTGAACACACTGCCTGCA TGATCACACTCACGGATCCTTCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RITA1_chr12_113180721_113197368	113197115	TATGGGAT others(91): Show TATGGGATGTGGACACTAGATGGAGCCATGATCATTAGGCCCAGTGTCAG AGTGTCAGGCCCTTCTAGCCAGTCGCTTTTTTTTTTTTTTTTTTTTTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	384	0.0026	-98	c.52 others(109): Show c.5299_*5396delATGGGATGTGGACACTAGATGGAGCCATGATCAT TAGGCCCAGTGTCAGAGTGTCAGGCCCTTCTAGCCAGTCGCTTTTTTTTT TTTTTTTTTTTTAA	RITA1	ENSG00000139405.16	transcript	ENST00000548278.2	protein_coding		4748		chr12	TogoVar
RNF135_chr17_30966039_31004911	30979676	TCCCTCCC others(91): Show TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0090 a0004c0004t0001g0090	1	264	0.0038	-98	c.373 others(115): Show c.373-4895_373-4798delCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCC	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF214_chr11_117227671_117291454	117251346	ACCTCCCG others(91): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	357	0.0028	-98	c.959 others(115): Show c.959+4471_959+4568delTGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCC	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNFT2_chr12_116733315_116858631	116841796	TATATATA others(91): Show TATATATATAAATATATATATAAAAATATATATATATAAATATATATATA AATATATATAAAAATATATATATAAATATATATATAAATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04199.hp1 HG03831.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0183 a0001c0001t0004g0172 a0001c0001t0004g0183	2	266	0.0075	-98	c.120 others(117): Show c.1200+5524_1200+5621delAATATATATATAAAAATATATATATA TAAATATATATATAAATATATATAAAAATATATATATAAATATATATATA AATATATATAAAAATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3AL_chr17_207389_357807	215908	CACCCCAC others(91): Show CACCCCACCCACATGGCTGCCAGGCTCTGGCCTGACCTCACCCACATGGC TGCCGGGCTCTGGCCTGACCCCACCCACATGGCTGCCGGGCTCTGGCCT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18993.hp2 NA18963.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0032 a0001c0006t0004 a0001c0001t0032 a0001c0006t0004	a0001c0001t0032g0004 a0001c0006t0004g0022 a0001c0001t0032g0004 a0001c0006t0004g0022	2	132	0.0152	-98	c.728 others(113): Show c.728-204_728-107delAGGCCAGAGCCCGGCAGCCATGTGGGTGGG GTCAGGCCAGAGCCCGGCAGCCATGTGGGTGAGGTCAGGCCAGAGCCTGG CAGCCATGTGGGTGGGGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	353541	CAGGGGTG others(91): Show CAGGGGTGTGGAGACCCTCTTCAGGACTGTACAGGCGAAGCAGGGGGCTG GGAACAAGGCCGGTTATTATAACCCAACAAACTGGGTTCCAAGGAGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(28): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG01192.hp2 HG01243.hp2 HG01884.hp2 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18947.hp2 NA18951.hp1 NA18959.hp2 NA18993.hp1 NA18995.hp1 NA19003.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0036 a0001c0004t0001 a0001c0008t0001 a0005c0009t0001	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 others(28): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0069 a0001c0001t0003g0052 a0001c0001t0006g0072 a0001c0001t0009g0066 a0001c0001t0011g0003 a0001c0001t0011g0056 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0017g0070 a0001c0001t0022g0071 a0001c0001t0031g0067 a0001c0001t0033g0063 a0001c0001t0035g0074 a0001c0001t0037g0058 a0001c0002t0001g0057 a0001c0002t0001g0073 a0001c0002t0006g0060 a0001c0003t0001g0068 a0001c0003t0036g0064 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0008t0001g0044 a0005c0009t0001g0054	31	120	0.2583	-98	c.-11 others(109): Show c.-1140_-1043delTGGCTCCTTGGAACCCAGTTTGTTGGGTTATAAT AACCGGCCTTGTTCCCAGCCCCCTGCTTCGCCTGTACAGTCCTGAAGAGG GTCTCCACACCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		735		chr17	TogoVar
RPS3_chr11_75394518_75411907	75410034	ACCTCCCG others(91): Show ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCTCCC CCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCACACCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-98	c.44 others(109): Show c.4425_*4522delCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCCTCCCCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGC TGACCCCACACCTC	RPS3	ENSG00000149273.15	transcript	ENST00000531188.6	protein_coding		3128		chr11	TogoVar
RPTOR_chr17_80539838_80971368	80875757	CGGGTCTT others(91): Show CGGGTCTTCACACCGAGCCTGTGCCACGCAGGGTGTGTGTGTCGCCTGCC GGGTCTTCCCACCGAGCCCGTGCCGCCCAGGATGTGTGTGTCACCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0053 a0001c0037t0053	a0001c0037t0053g0139 a0001c0037t0053g0139	1	194	0.0052	-98	c.151 others(117): Show c.1510-4639_1510-4542delTGTGCCACGCAGGGTGTGTGTGTCGC CTGCCGGGTCTTCCCACCGAGCCCGTGCCGCCCAGGATGTGTGTGTCACC TGCTGGGTCTTCACACCGAGCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80876298	TCACACCG others(91): Show TCACACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTT CCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2	a0001 a0001	a0001c0046 a0001c0047 a0001c0057 a0001c0046 a0001c0047 a0001c0057	a0001c0046t0024 a0001c0047t0012 a0001c0057t0077 a0001c0046t0024 a0001c0047t0012 a0001c0057t0077	a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0057t0077g0016 a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0057t0077g0016	3	194	0.0155	-98	c.151 others(117): Show c.1510-4115_1510-4018delACACCGAGCCCGTGCCACGCAGGGTG TGTGTGTCGCCTGCCGGGTCTTCCACCGAGCCCGTGCCACGCAGGGTGTG TGTGTCGCCTGCCGTGTCTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTEL1_chr20_63653312_63701245	63677697	GCCTGTTG others(91): Show GCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC CCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0011 a0001 a0011	a0001c0014 a0011c0008 a0001c0014 a0011c0008	a0001c0014t0002 a0011c0008t0001 a0001c0014t0002 a0011c0008t0001	a0001c0014t0002g0006 a0011c0008t0001g0026 a0001c0014t0002g0006 a0011c0008t0001g0026	2	8	0.2500	-98	c.920 others(113): Show c.920-250_920-153delCTGTTGGTGGATTTGGCCTGCACGGATTCT GTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTG TGTGGCCTCTTCCTTCCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
SARDH_chr9_133658560_133743352	133668799	CCCTCACC others(91): Show CCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCT CCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0122 a0001c0024t0001g0122	1	260	0.0038	-98	c.249 others(117): Show c.2495+1687_2495+1784delAGAGGGAGGGTGAGGGAGAGGGAGGG TGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGG TGAGGGGAGATGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668977	TCCCTCAC others(91): Show TCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCT CCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	246	0.0041	-98	c.249 others(117): Show c.2495+1509_2495+1606delGAGATGGAGGGTGAGGGAGAGGGAGG GTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGG TGAGGGAGATGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASS6_chr1_100078570_100137930	100135311	GATTTAAA others(91): Show GATTTAAAGTCAGCAATAAGGAAGAAATTATATACAGTATTTTCTTTTTC TTCTATTGAATATATAGTATTTTCAAAAAAAAAATTTCTTAGCTTTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	302	0.0033	-98	c.-25 others(109): Show c.-2595_-2498delGGGAAAGCTAAGAAATTTTTTTTTTGAAAATACT ATATATTCAATAGAAGAAAAAGAAAATACTGTATATAATTTCTTCCTTAT TGCTGACTTTAAAT	SASS6	ENSG00000156876.10	transcript	ENST00000287482.6	protein_coding		2382		chr1	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(91): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA19076.hp1 HG03834.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0001g0187 a0001c0001t0001g0208	2	296	0.0068	-98	c.-47 others(109): Show c.-4725_-4628delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCGB1C2_chr17_132569_144067	136289	CCCCTAAC others(91): Show CCCCTAACCAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAAC CCTAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAACCCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01167.hp2 others(1): Show HG00280.hp2 HG00733.hp2 HG01167.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0010 a0001c0001t0001g0012 a0001c0001t0002g0010	4	399	0.0100	-98	c.-13 others(109): Show c.-1301_-1204delCCCTAACCAACCCTAACCCTAACCCTAACCCTAA CCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCCTA ACCCCTAACCCTAA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1279		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289165	TCCCCCGT others(91): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0133 a0003c0004t0003g0133	1	207	0.0048	-98	c.166 others(117): Show c.1663-1102_1663-1005delCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC63_chr6_107862756_107963208	107953778	CGTCCGGG others(91): Show CGTCCGGGAGGGAGGTGGGGGTGTGAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00558.hp2 others(65): Show HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00621.hp2 HG00735.hp1 HG01256.hp2 HG01258.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02273.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG03139.hp1 HG03486.hp1 HG03688.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0002t0015 a0001c0002t0025 a0001c0002t0026 a0001c0002t0049 a0001c0002t0050 a0001c0002t0052 a0004c0005t0005	a0001c0002t0001g0007 a0001c0002t0002g0001 a0001c0002t0002g0010 others(58): Show a0001c0002t0001g0007 a0001c0002t0002g0001 a0001c0002t0002g0010 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0005g0006 a0001c0002t0005g0008 a0001c0002t0005g0174 a0001c0002t0005g0183 a0001c0002t0005g0184 a0001c0002t0005g0185 a0001c0002t0005g0186 a0001c0002t0005g0190 a0001c0002t0005g0191 a0001c0002t0005g0192 a0001c0002t0005g0193 a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0011g0005 a0001c0002t0011g0187 a0001c0002t0011g0188 a0001c0002t0011g0189 a0001c0002t0011g0195 a0001c0002t0015g0200 a0001c0002t0015g0201 a0001c0002t0015g0309 a0001c0002t0015g0311 a0001c0002t0025g0288 a0001c0002t0025g0305 a0001c0002t0026g0229 a0001c0002t0026g0230 a0001c0002t0049g0289 a0001c0002t0050g0310 a0001c0002t0052g0194 a0004c0005t0005g0182	68	330	0.2061	-98	c.124 others(115): Show c.124+4010_124+4107delCGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTCACA CCCCCACCTCCCTCCCGGAC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SELENOI_chr2_26341143_26400885	26370870	AGGCGGGG others(91): Show AGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG02055.hp2 others(6): Show HG00741.hp2 HG01496.hp1 HG02055.hp2 HG02572.hp2 HG02647.hp1 HG03195.hp2 HG03516.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 others(6): Show a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0238 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0008g0241 a0001c0001t0008g0242	9	319	0.0282	-98	c.311 others(115): Show c.311-2482_311-2385delACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGAC	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	CATTACAA others(91): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01167.hp2 others(20): Show HG00738.hp2 HG01069.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG02040.hp1 HG02109.hp1 HG02559.hp2 HG02647.hp1 HG02698.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18950.hp2 NA19084.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0016 a0002c0004t0001	a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0216 others(20): Show a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0252 a0001c0001t0001g0300 a0001c0001t0002g0043 a0001c0001t0002g0084 a0001c0001t0013g0081 a0001c0002t0001g0210 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0281 a0001c0002t0001g0320 a0001c0002t0001g0358 a0001c0002t0001g0363 a0001c0002t0001g0369 a0001c0002t0002g0086 a0001c0002t0003g0102 a0001c0002t0003g0151 a0001c0002t0011g0348 a0001c0002t0016g0150 a0002c0004t0001g0162	23	341	0.0674	-98	c.331 others(115): Show c.331-2755_331-2658delATGTCTTTATCCTACGGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTA CAGGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar

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