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
MYZAP_chr15_57586904_57690364	57687470	TAATATGT others(116): Show TAATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACAT ATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACAT ATATATGTGTGTACAATATACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	352	0.0028	-123	c.29 others(11): Show c.2973_*3095del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2107		chr15	TogoVar
NAALADL2_chr3_174854334_175815548	175132430	GTGGGGCT others(116): Show GTGGGGCTGACCCCCCCACCTCCTCCGGACGGGGCGGCTGGCTGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACT CCCGGACGGGAAGAATGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 NA18906.hp2 HG03130.hp1 NA18522.hp1 NA18906.hp2	a0004 a0006 a0007 a0004 a0006 a0007	a0004c0002 a0006c0009 a0007c0014 a0004c0002 a0006c0009 a0007c0014	a0004c0002t0006 a0006c0009t0025 a0007c0014t0004 a0004c0002t0006 a0006c0009t0025 a0007c0014t0004	a0004c0002t0006g0039 a0006c0009t0025g0035 a0007c0014t0004g0040 a0004c0002t0006g0039 a0006c0009t0025g0035 a0007c0014t0004g0040	3	64	0.0469	-123	c.545 others(19): Show c.545+35140_545+35262del	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13			chr3	TogoVar
NEDD4L_chr18_58039226_58406539	58170287	CCTGCCCG others(116): Show CCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGC CTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACC CCAGCCCAAGAGGACAGAACACTG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	118	0.0085	-123	c.122 others(17): Show c.122+4556_122+4678del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58170602	AGGACAGA others(116): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03130.hp1 others(3): Show HG02622.hp1 HG02647.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 a0001c0001t0030	a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0003g0064 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0003g0064 a0001c0001t0011g0105 a0001c0001t0019g0036 a0001c0001t0030g0055	6	118	0.0509	-123	c.122 others(17): Show c.122+4823_122+4945del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58170930	AGGACAGA others(116): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	118	0.0085	-123	c.122 others(17): Show c.122+5192_122+5314del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171053	GGGACAGA others(116): Show GGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02040.hp2 NA18951.hp1 others(1): Show HG01099.hp1 HG02040.hp2 NA18951.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0035 a0001c0001t0002g0077 a0001c0001t0004g0099 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0077 a0001c0001t0004g0099 a0001c0001t0010g0066	4	118	0.0339	-123	c.122 others(17): Show c.122+5274_122+5396del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171265	AACACTGC others(116): Show AACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCT GCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTC ATCACCCCAGCCCAAGGGGACAGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG00741.hp2 others(34): Show HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01099.hp2 HG01891.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18612.hp2 NA18747.hp1 NA18962.hp1 NA18983.hp1 NA18995.hp2 NA19030.hp1 NA19060.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0004t0004 a0002c0003t0040	a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0067 others(34): Show a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0111 a0001c0001t0003g0014 a0001c0001t0003g0022 a0001c0001t0003g0095 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0091 a0001c0001t0005g0097 a0001c0001t0007g0104 a0001c0001t0008g0029 a0001c0001t0008g0060 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0018g0009 a0001c0001t0026g0042 a0001c0001t0028g0110 a0001c0001t0035g0045 a0001c0001t0036g0069 a0001c0001t0037g0076 a0001c0001t0038g0031 a0001c0001t0041g0080 a0001c0001t0042g0063 a0001c0001t0044g0020 a0001c0001t0048g0007 a0001c0004t0004g0116 a0002c0003t0040g0117	37	118	0.3136	-123	c.122 others(17): Show c.122+5458_122+5580del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656359	AAGCCCAC others(116): Show AAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCT CTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTC TCTCTGAAGCCCACCTTCTCCCGC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0101 a0001c0001t0051g0101	1	366	0.0027	-123	c.-16 others(21): Show c.-163-18176_-163-18054del	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NKD2_chr5_1003802_1043943	1022223	CCAGCCCT others(116): Show CCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGC TCTTCCCACCCGCTGTGGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG02109.hp2 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0099 a0003c0004t0001g0101 a0003c0004t0001g0099 a0003c0004t0001g0101	2	319	0.0063	-123	c.142 others(17): Show c.142-9922_142-9800del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023416	CCAGCCCA others(116): Show CCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCTCTGC TCTTCCCACCCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG03540.hp2 HG02257.hp1 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088	3	319	0.0094	-123	c.142 others(17): Show c.142-8729_142-8607del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023457	TCAGCCCG others(116): Show TCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGT TGTCTCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGC TCTTCCCACCCGCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	319	0.0031	-123	c.142 others(17): Show c.142-8688_142-8566del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023874	ATTGTCCC others(116): Show ATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCC ACCCGCTGTGGGTGTCCCAGCCCT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04115.hp1 NA18962.hp1 HG02602.hp1 HG04115.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0260 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0260	3	319	0.0094	-123	c.142 others(17): Show c.142-8258_142-8136del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024113	CCAGCCCA others(116): Show CCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0265 a0001c0001t0006g0265	1	319	0.0031	-123	c.142 others(17): Show c.142-7991_142-7869del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024161	ATTGTCCC others(116): Show ATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp2 HG01261.hp2 others(8): Show HG00597.hp1 HG01074.hp2 HG01261.hp2 HG01978.hp1 HG02135.hp2 HG02523.hp1 HG03239.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0001c0001t0001 a0001c0001t0002 a0002c0003t0002	a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0008 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0163 a0002c0003t0002g0155	11	319	0.0345	-123	c.142 others(17): Show c.142-7971_142-7849del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024306	GCTGTGGG others(116): Show GCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	319	0.0031	-123	c.142 others(17): Show c.142-7834_142-7712del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024479	GTCCCAGC others(116): Show GTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCC TGCTCTTCCCACTCTCTGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG01515.hp1 others(15): Show HG00408.hp1 HG01168.hp2 HG01515.hp1 HG01891.hp1 HG02015.hp1 HG02132.hp1 HG02258.hp2 HG02735.hp1 HG03834.hp1 NA18747.hp2 NA18951.hp2 NA18965.hp2 NA18984.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0010 a0001c0014 others(1): Show a0001c0001 a0001c0010 a0001c0014 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0010t0001 a0001c0014t0001 a0012c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0037 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0002g0042 a0001c0001t0006g0265 a0001c0001t0012g0119 a0001c0001t0012g0123 a0001c0010t0001g0187 a0001c0014t0001g0012 a0012c0021t0001g0036	18	319	0.0564	-123	c.142 others(17): Show c.142-7641_142-7519del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024798	GCTGTGGG others(116): Show GCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CTTTGTCCCTGCTCTTCCCACTCT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	319	0.0031	-123	c.142 others(17): Show c.142-7342_142-7220del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024940	ATTGTCCC others(116): Show ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGTGTCCCAGCCCG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18981.hp1 NA18939.hp1 NA18981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0072 a0001c0006t0009g0097 a0001c0006t0009g0072 a0001c0006t0009g0097	2	319	0.0063	-123	c.142 others(17): Show c.142-7190_142-7068del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025085	GCTGTGGG others(116): Show GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	319	0.0031	-123	c.142 others(17): Show c.142-7014_142-6892del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025589	TCAGCCCG others(116): Show TCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGT TGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCTCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02148.hp1 HG01175.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0198 a0001c0001t0001g0043 a0001c0001t0001g0198	2	319	0.0063	-123	c.142 others(17): Show c.142-6556_142-6434del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026318	GCTGTGGG others(116): Show GCTGTGGGCGTCTCGGTCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCGGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CTTTTTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	319	0.0031	-123	c.142 others(17): Show c.142-5820_142-5698del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1026359	TCTGTGGG others(116): Show TCTGTGGGCGTCTCGGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCTTTTTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CATTGTCCCTGCTCTTCCCATCTG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0017 a0007c0015t0017	a0007c0015t0017g0098 a0007c0015t0017g0098	1	319	0.0031	-123	c.142 others(17): Show c.142-5779_142-5657del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993484	CCCCTCTC others(116): Show CCCCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCT CCTCCCCCCTCCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA19081.hp1 HG02135.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0110 a0001c0002t0002g0001 a0001c0002t0002g0110	2	350	0.0057	-123	c.55 others(11): Show c.5572_*5694del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4856		chr19	TogoVar
NPY5R_chr4_163338892_163356934	163348806	ATGTATGA others(116): Show ATGTATGACATTAATTTAATTTGAAATGAAGAAAACTTATTACCGGGAGT TATATTAATATCACTGCTACATTTACGTTTAAGGTATAATGTTTTCCTTG AACAATGAATTCATTGACTCGTTC	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	440	0.0023	-123	c.-10 others(16): Show c.-10+1285_-9-1336del	NPY5R	ENSG00000164129.12	transcript	ENST00000338566.8	protein_coding	3/3			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108163784	ATGAGAGG others(116): Show ATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGT GGGGTGGCGGTAATGAGAGGTCATACTGGGTGGGGTGGCGGTAATGAGAG GTCATACCGGGTGGGGTGGGGTAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG03486.hp1 others(1): Show HG02486.hp1 HG02922.hp1 HG03486.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0002c0006 others(1): Show a0001c0003 a0002c0005 a0002c0006 a0002c0008	a0001c0003t0002 a0002c0005t0003 a0002c0006t0002 others(1): Show a0001c0003t0002 a0002c0005t0003 a0002c0006t0002 a0002c0008t0003	a0001c0003t0002g0108 a0002c0005t0003g0200 a0002c0006t0002g0034 others(1): Show a0001c0003t0002g0108 a0002c0005t0003g0200 a0002c0006t0002g0034 a0002c0008t0003g0025	4	208	0.0192	-123	c.346 others(19): Show c.3466+3014_3466+3136del	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NUP153_chr6_17610037_17711925	17698342	CAGTGCTT others(116): Show CAGTGCTTTGGAGGCCAAGGCAGGGGTTCTGCTTCAGTCCAGGAGTTGGA GACCAGCCTGGGGAATATGGCGAAACCCTGTCTCTACCGAAAAAATACAA AAATTAGCTGGGAGCAGCCGGGCG	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0014 a0022c0031t0014	a0022c0031t0014g0212 a0022c0031t0014g0212	1	316	0.0032	-123	c.111 others(17): Show c.111+7812_111+7934del	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	1/21			chr6	TogoVar
NUP93_chr16_56725129_56855286	56808181	TATATAGT others(116): Show TATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0206 a0001c0001t0006g0206	1	378	0.0027	-123	c.489 others(17): Show c.489+2555_489+2677del	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTUD7A_chr15_31470398_31875673	31510736	CATATGTA others(116): Show CATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA CATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA CATATGTATATCTATATGTAACAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0077 a0002c0003t0077	a0002c0003t0077g0143 a0002c0003t0077g0143	1	244	0.0041	-123	c.894 others(17): Show c.894-7041_894-6919del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RX5_chr17_3668227_3701155	3685855	GCCCAGCC others(116): Show GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGG GGCCCCCAGGGACCCTCCCAACGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	362	0.0028	-123	c.981 others(17): Show c.981+2034_981+2156del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAQR5_chr15_69293912_69412780	69300579	TTCTTTCT others(116): Show TTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTT CCTTCCTCCCTCCCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp1 HG02258.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0249 a0001c0003t0003g0248 a0001c0001t0001g0249 a0001c0003t0003g0248	2	284	0.0070	-123	c.-27 others(19): Show c.-277+1534_-277+1656del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PGAP3_chr17_39666122_39693057	39691339	CGAGACCA others(116): Show CGAGACCATCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACA AAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTCCG GAAGCTGAGGCAGGAGAATTGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	376	0.0027	-123	c.-34 others(11): Show c.-3448_-3326del	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3283		chr17	TogoVar
PIEZO2_chr18_10665247_11154569	10796886	TCATACAT others(116): Show TCATACATACCATCATATCATATCTTACATACCATCATATATGTACTATC ATGTCATATCATACATACCATCATATCTTATATACCATTATATATGTACC ATCATATTATACATACCGTCATAG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0073 a0001c0044t0002g0073	1	158	0.0063	-123	c.152 others(17): Show c.1527+365_1527+487del	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	12/55			chr18	TogoVar
PKP3_chr11_389209_409908	401443	CGCCCCGC others(116): Show CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCGCTCACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0005 a0001c0007t0001g0005	1	216	0.0046	-123	c.173 others(17): Show c.1737+755_1737+877del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP1_chr12_27519206_27700564	27558473	CACACACA others(116): Show CACACACACACACACACACACACGATATTCTATATAGATCAAGAAATGTC TTACTTCTTTGTGGGCATTGGGGAAAATAGTTTAGGTATATATACTCTTC CTTCCTGCCCCCACCTCTCCACCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp2 others(77): Show HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG03834.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18946.hp2 NA18949.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18967.hp1 NA18971.hp1 NA18975.hp2 NA18983.hp1 NA18984.hp2 NA18991.hp1 NA18997.hp1 NA18997.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19058.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0006 others(7): Show a0001 a0002 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0014 a0001c0023 a0002c0003 a0006c0011 a0007c0027 a0008c0029 a0009c0026 a0010c0013 a0011c0012 a0013c0022 a0014c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0004t0008 a0001c0004t0010 a0001c0009t0001 a0001c0014t0005 a0001c0023t0012 a0002c0003t0002 a0006c0011t0001 a0007c0027t0014 a0008c0029t0003 a0009c0026t0026 a0010c0013t0005 a0011c0012t0002 a0013c0022t0005 a0014c0025t0003	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 others(77): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0002g0112 a0001c0001t0002g0126 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0065 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0313 a0001c0001t0004g0054 a0001c0001t0004g0075 a0001c0001t0005g0034 a0001c0001t0005g0153 a0001c0001t0005g0157 a0001c0001t0005g0162 a0001c0001t0006g0116 a0001c0001t0006g0240 a0001c0001t0007g0017 a0001c0001t0007g0021 a0001c0001t0024g0052 a0001c0001t0030g0038 a0001c0001t0031g0070 a0001c0001t0032g0127 a0001c0001t0035g0045 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0037 a0001c0002t0001g0091 a0001c0002t0001g0125 a0001c0002t0001g0246 a0001c0002t0001g0251 a0001c0002t0002g0072 a0001c0002t0003g0056 a0001c0002t0004g0187 a0001c0002t0005g0036 a0001c0002t0008g0241 a0001c0004t0008g0109 a0001c0004t0008g0254 a0001c0004t0008g0255 a0001c0004t0010g0118 a0001c0009t0001g0256 a0001c0014t0005g0253 a0001c0023t0012g0011 a0002c0003t0002g0020 a0002c0003t0002g0033 a0006c0011t0001g0047 a0007c0027t0014g0217 a0008c0029t0003g0044 a0009c0026t0026g0119 a0010c0013t0005g0252 a0011c0012t0002g0110 a0013c0022t0005g0048 a0014c0025t0003g0247	80	314	0.2548	-123	c.-12 others(21): Show c.-123-19656_-123-19534del	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP2R2C_chr4_6315581_6477614	6336663	CCCTGCTT others(116): Show CCCTGCTTCCATCCCTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCT CCCTCCCTCCCTCCTTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0195 a0001c0002t0008g0195	1	298	0.0034	-123	c.791 others(17): Show c.791-3055_791-2933del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PRDM15_chr21_41793225_41884344	41858334	CCCCAGAG others(116): Show CCCCAGAGCACAGGCCCCTCCGACAGAGGCGGACATTGGGTGCCCAGAGC ACAGGCCCCTCCGACAGAGGCGGACATTGGGTGCCCAGAGCACAGGCCTC TCCGACAGAGGCGGACATGGGGTG	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20905.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0175 a0001c0003t0019g0176 a0001c0003t0019g0175 a0001c0003t0019g0176	2	406	0.0049	-123	c.132 others(17): Show c.132-1128_132-1006del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	3/23			chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2121867	TGGTTAGG others(116): Show TGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACG GCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGT CACGGTGGTGGTTAGGGTCACGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0185 a0001c0003t0003g0185	1	286	0.0035	-123	c.335 others(19): Show c.335-13391_335-13269del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122637	GGTGGTTA others(116): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0190 a0001c0003t0003g0190	1	286	0.0035	-123	c.335 others(19): Show c.335-12619_335-12497del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122652	GGTGGTTA others(116): Show GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02109.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0163 a0001c0001t0001g0171	2	286	0.0070	-123	c.335 others(19): Show c.335-12604_335-12482del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123992	GTGGTGGT others(116): Show GTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGT CACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTA GGGTCACGGCGACGGTTAGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	286	0.0035	-123	c.335 others(19): Show c.335-11269_335-11147del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PSMB5_chr14_23020856_23039900	23029047	AAAGATTT others(116): Show AAAGATTTTTTTCAAAAATGCACAGGACTTACCCTAGGTATTTTTTATAA CTGGTGTGGGGTGGGAAACAGGTATGGAACTTGTTTTTTAAGTCCCCCAG GTGATTTTAATGCAAGCCAGCTTG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	404	0.0025	-123	c.506 others(17): Show c.506-2795_506-2673del	PSMB5	ENSG00000100804.19	transcript	ENST00000361611.11	protein_coding	2/2			chr14	TogoVar
PTPRA_chr20_2868481_3043669	3029074	CTTTACAC others(116): Show CTTTACACATATTTTCTCACCCTGATGTTTCATTACATCAGGATTTTTTT TTTTTTTTTGGTTTTGTTTGTTTGTTTGTTTGTTTGAGAGAGGGTCTCAC TTTGTCACCCAGGCTGGAGTGCAG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0312 a0002c0002t0001g0312	1	356	0.0028	-123	c.192 others(19): Show c.1920+1235_1920+1357del	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PXDNL_chr8_51314577_51814445	51534896	GCCTCTGC others(116): Show GCCTCTGCCCGGCCGCCCCTAGGAAGTGAGGACCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTATCCAGGAGGTGAGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0003 a0003c0005t0003g0003	1	122	0.0082	-123	c.380 others(19): Show c.380+21821_380+21943del	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	492394	CCCCGGGA others(116): Show CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGG AGACCCGAGGCCGCCCAGGGCCCT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	295	0.0034	-123	c.126 others(19): Show c.1265+3414_1265+3536del	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114044393	CCCCCCCG others(116): Show CCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCCCCCCCGCCCC GCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCC CGCCTCACTCGCTGAGCTCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	67	0.0149	-123	c.278 others(17): Show c.278-3422_278-3300del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RGS7_chr1_240770514_241362205	241023004	ATGTAAAA others(116): Show ATGTAAAATAACAACTATGAGATATAGTTGTTATAATGATTAAATAGGTA AAATTGTGTAGAATAACAACTACAGATATAGTTGTTATAGTTAAATGAAT AAAATCATGTAAAATTTACAATCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01081.hp1 others(52): Show HG00639.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp2 HG01981.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18992.hp2 NA19000.hp1 NA19030.hp1 NA19030.hp2 NA19068.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 others(52): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0056 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0097 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0005g0021 a0001c0001t0006g0061 a0001c0001t0008g0110 a0001c0003t0001g0065	55	112	0.4911	-123	c.176 others(19): Show c.176-39998_176-39876del	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RIPOR2_chr6_24799284_24940960	24918346	ATCCAGTC others(116): Show ATCCAGTCATTCATATTTTAAAAATATTTCTTCTTCAGGTAGCTCCTTTA ATTTAATTTAATTTTCATTTCTCTTTCCATTGTAGGCCAGTGATGTTATT GCATGTAATCCTGTTTAATTCTTT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0160 a0001c0003t0002g0160	1	328	0.0031	-123	c.61+ others(17): Show c.61+17369_61+17491del	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RNF213_chr17_80255852_80403794	80314589	GTAATGGA others(116): Show GTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGT GATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGG TGGTGGTGGAGGTACTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02683.hp2 HG03209.hp2 HG01993.hp2 HG02683.hp2 HG03209.hp2	a0005 a0080 a0005 a0080	a0005c0007 a0080c0135 a0005c0007 a0080c0135	a0005c0007t0004 a0080c0135t0081 a0005c0007t0004 a0080c0135t0081	a0005c0007t0004g0207 a0005c0007t0004g0211 a0080c0135t0081g0008 a0005c0007t0004g0207 a0005c0007t0004g0211 a0080c0135t0081g0008	3	292	0.0103	-123	c.281 others(19): Show c.2811+1424_2811+1546del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314901	GAGGTACT others(116): Show GAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGA GGTGATGGTGGTCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGG TGATGGTGGAGGTACTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0095 a0001c0095	a0001c0095t0001 a0001c0095t0001	a0001c0095t0001g0162 a0001c0095t0001g0162	1	292	0.0034	-123	c.281 others(19): Show c.2811+1735_2811+1857del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
ROBO1_chr3_78592239_79772998	78842431	TTTTATAT others(116): Show TTTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATAT TTTTATATATATGAGCCATATATATTTTTATATATATGAGCCATATATAT TTTTATATATATGAGCCATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	44	0.0227	-123	c.500 others(19): Show c.500-95654_500-95532del	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar

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