Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(225): Show TCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCT CCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTC TTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCC CTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0066 a0001c0001t0016g0066	1	358	0.0028	232	c.44 others(243): Show c.4424_*4425insGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGA GGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGG GAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAG AAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGA GGGAGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PEX10_chr1_2398974_2417564	2401360	C C	CTCCCTCC others(225): Show CTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCT TCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCT CCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18969.hp2 NA18967.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0035 a0001c0006t0002g0109 a0001c0001t0002g0035 a0001c0006t0002g0109	2	358	0.0056	232	c.44 others(243): Show c.4405_*4406insAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGG AGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGA GGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAA GGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGG GAGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2613		chr1	TogoVar
PIGZ_chr3_196941356_196973833	196973607	G G	GCCCGGCC others(225): Show GCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGC CCATCGTCTGGGATGTGAGGAGCCCCTCTGCCCGGCCGCCCAGTCTGGGA AGTGAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGC GTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCCG GCCGCCCAGTCTGGGAAGTGAGGAGCGCCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0031 a0001c0010t0004g0031	1	424	0.0024	232	c.-49 others(243): Show c.-4922_-4921insAAGAGGCGCTCCTCACTTCCCAGACTGGGCGGCC GGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACG CTCCTCACTTCCCAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTT CCCAGACTGGGCGGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGG CGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4775		chr3	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(225): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAA TATATATTATATATAATATATAATATATAATATATAATATATATAATATA TAATATATTATATATAATATATATTATATATTATATATTATATATATATT ATATATTATATATAATATATAATATATATTATATATAATATATAATATAT ATTATATATAATATATAATATATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	414	0.0024	232	c.53 others(243): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATAATATATATTATATATAATATATAATATATAATATAT AATATATATAATATATAATATATTATATATAATATATATTATATATTATA TATTATATATATATTATATATTATATATAATATATAATATATATTATATA TAATATATAATATATATTATATATAATATATAATATATATTATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(225): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAA TATATTATATATAATATATAATATATAATATATAATATATATAATATATA ATATATTATATATAATATATATTATATATTATATATTATATATATATTAT ATATTATATATAATATATAATATATATTATATATAATATATAATATATAT TATATATAATATATAATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	414	0.0024	232	c.53 others(243): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATAATATATTATATATAATATATAATATATAATATATAA TATATATAATATATAATATATTATATATAATATATATTATATATTATATA TTATATATATATTATATATTATATATAATATATAATATATATTATATATA ATATATAATATATATTATATATAATATATAATATATATTATATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PKP3_chr11_389209_409908	398439	C C	CTACCCCC others(225): Show CTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	216	0.0046	232	c.106 others(249): Show c.1069-536_1069-535insCTGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACAC ACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398526	G G	GTACCCCC others(225): Show GTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0184 a0003c0014t0001g0184	1	216	0.0046	232	c.106 others(249): Show c.1069-438_1069-437insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398729	C C	CTACCCCC others(225): Show CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCATACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	216	0.0046	232	c.106 others(249): Show c.1069-177_1069-176insATACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(225): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02257.hp2 HG02683.hp2 others(4): Show HG02135.hp2 HG02257.hp2 HG02683.hp2 HG03669.hp2 NA18950.hp1 NA18966.hp2 NA19012.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0004c0015	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0004c0015t0001	a0001c0001t0001g0139 a0001c0002t0001g0021 a0001c0002t0001g0032 others(4): Show a0001c0001t0001g0139 a0001c0002t0001g0021 a0001c0002t0001g0032 a0001c0002t0001g0087 a0001c0002t0001g0095 a0001c0006t0001g0161 a0004c0015t0001g0072	7	250	0.0280	232	c.309 others(251): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGC CTGCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHG4B_chr5_87168_194966	141018	A A	ACCCTGCA others(225): Show ACCCTGCACACCCCCACCCCCTCCCCTGCACACCCCACCCCTTCCGCTGC ACACCCCACCCCCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAAC CCACTCCCCTGCACATCCCACCCCCTCCCCTGCACACCCCACAACCTCCC CTGCACACCCCACCCCTTCCGCTGCACACCAACCCACTCCCCTGCACACC CCCACCCCCTCCCCTGCACACCCCCACCCACTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp1 HG03098.hp2 NA19030.hp1	a0014 a0035 a0014 a0035	a0014c0065 a0035c0060 a0014c0065 a0035c0060	a0014c0065t0038 a0035c0060t0020 a0014c0065t0038 a0035c0060t0020	a0014c0065t0038g0166 a0035c0060t0020g0188 a0014c0065t0038g0166 a0035c0060t0020g0188	2	210	0.0095	232	c.147 others(249): Show c.1477+315_1477+316insCACCCCCTCCCCTGCACACCCCACCCCT TCCGCTGCACACCCCACCCCCTCCCCTGCACACCCCACCCCTTCCGCTGC ACACCAACCCACTCCCCTGCACATCCCACCCCCTCCCCTGCACACCCCAC AACCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAACCCACTCCCC TGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCACTCCCCTGCACA CCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(225): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAT TATATATAATATATTATATATATTATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA18957.hp2 NA18964.hp1 others(3): Show HG02071.hp1 NA18957.hp2 NA18964.hp1 NA18975.hp1 NA19004.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0007g0043 a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0007g0043	6	286	0.0210	232	c.-50 others(243): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATAATATATATAAATATATTTTTATA TATAATATATATTATATATAAATATATATTATATATAATATATATTATAT TATATATAATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(225): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAT TATATTATATATAATATATTATATATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	286	0.0035	232	c.-50 others(243): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATATATAATATATTATATATAATATAA TATATATAATATATTATATATAATATAATATATATAAATATATTTTTATA TATAATATATATTATATATAAATATATATTATATATAATATATATTATAT TATATATAATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(225): Show TTTATATATAATATATAATATATATTTATATAAATATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAT TATATATAATATATTATATATATTATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	286	0.0035	232	c.-50 others(243): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATAATATATATAAATATATTTTTATA TATAATATATATTATATATAAATATATATTATATATAATATATATTATAT TATATATAATATATATTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137522258	C C	CAGAGACG others(225): Show CAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGGGA GCCGCCGCGCCCGGCCAAGAGACGGGGTTTCACCGTGTGAGCCAGGATGG TCTCGATCTCCTGACTTTGTGATCCACCCTCCTTGGCCTCCCACAGTGCT GGGGTTACAGGCGGGAGCCGCCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0027 a0027	a0027c0046 a0027c0046	a0027c0046t0001 a0027c0046t0001	a0027c0046t0001g0102 a0027c0046t0001g0102	1	188	0.0053	232	c.876 others(247): Show c.876+470_876+471insTGGCCGGGCGCGGCGGCTCCCGCCTGTAAC CCCAGCACTGTGGGAGGCCAAGGAGGGTGGATCACAAAGTCAGGAGATCG AGACCATCCTGGCTCACACGGTGAAACCCCGTCTCTTGGCCGGGCGCGGC GGCTCCCGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCTGATCA CGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCT CT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	9/34			chr9	TogoVar
PRDM15_chr21_41793225_41884344	41845136	C C	CACACACA others(225): Show CACACACACAGCCCCCTCCCCCCTCACAGGGACACACACAGCCCCTCCCC CCTCACAGGGACACACAGCCCCTCCCCCCTCACAGGGACACACACAGCCC CTCCCCCCTCGCAGGGACACACAGCCCCTCCCCCTCACAGGGACACACAG CCCCTCCCCCTCACAGGGACACACAGCCCCTCCCCCTCACAGGGACACAC ACACACAGCCCCTCCCCCCTCACAGGGACACAC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0394 a0001c0005t0007g0394	1	406	0.0025	232	c.640 others(249): Show c.640+1953_640+1954insGTGTGTCCCTGTGAGGGGGGAGGGGCTG TGTGTGTGTGTCCCTGTGAGGGGGAGGGGCTGTGTGTCCCTGTGAGGGGG AGGGGCTGTGTGTCCCTGTGAGGGGGAGGGGCTGTGTGTCCCTGCGAGGG GGGAGGGGCTGTGTGTGTCCCTGTGAGGGGGGAGGGGCTGTGTGTCCCTG TGAGGGGGGAGGGGCTGTGTGTGTCCCTGTGAGGGGGGAGGGGGCTGTGT GTGT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41845151	T T	TCCCCCCT others(225): Show TCCCCCCTCACAGGGACACACACAGCCCCTCCCCCCTCACAGGGACACAC AGCCCCTCCCCCCTCACAGGGACACACACAGCCCCTCCCCCCTCGCAGGG ACACACAGCCCCTCCCCCTCACAGGGACACACAGCCCCTCCCCCTCACAG GGACACACAGCCCCTCCCCCTCACAGGGACACACACACACAGCCCCTCCC CCCTCACAGGGACACACACACACACAGCCCCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0283 a0001c0005t0007g0283	1	406	0.0025	232	c.640 others(249): Show c.640+1938_640+1939insGAGGGGCTGTGTGTGTGTGTGTCCCTGT GAGGGGGGAGGGGCTGTGTGTGTGTGTCCCTGTGAGGGGGAGGGGCTGTG TGTCCCTGTGAGGGGGAGGGGCTGTGTGTCCCTGTGAGGGGGAGGGGCTG TGTGTCCCTGCGAGGGGGGAGGGGCTGTGTGTGTCCCTGTGAGGGGGGAG GGGCTGTGTGTCCCTGTGAGGGGGGAGGGGCTGTGTGTGTCCCTGTGAGG GGGG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3162861	C C	CTCTAGAG others(225): Show CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAG GGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGG GAGAGGGGATGTGCGCAGAAGCCCCTGGCATGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	210	0.0048	232	c.38- others(249): Show c.38-23224_38-23223insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTG CGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGA AGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAG CCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(225): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCT TCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCC CCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTT CCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCT CTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19070.hp1 NA18945.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0258 a0001c0001t0001g0173 a0001c0001t0001g0258	2	328	0.0061	232	c.845 others(249): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTC TCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCT TCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCT TCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCC TTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(225): Show TCTCCCTTCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCCCTCCC CTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTCCCTT CTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCTTCCCCTCC CCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTCCCT TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	328	0.0031	232	c.845 others(249): Show c.845-1779_845-1778insTCCCTTCCCCTTCCCTTCTCCCTTCCCT TCCCCTCCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCC CTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCT TCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCC CCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKN_chr6_161342417_162732766	162011315	T T	TACTATAT others(225): Show TACTATATATAATATAGTATATATTTATGATATATACTATATATAATATA GTATATATTTATGATATATACTATATATAATATAGTATATATTTATGATA TATACTATATATAATATAGTATATATTTATGATATATACTATATATAATA TAGTATATATTTATGATATATACTATATATAATATAGTATATATTTATGA TATATACTATATATAATATAGTATATATTTATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	32	0.0313	232	c.619 others(251): Show c.619-37899_619-37898insCATAAATATATACTATATTATATATA GTATATATCATAAATATATACTATATTATATATAGTATATATCATAAATA TATACTATATTATATATAGTATATATCATAAATATATACTATATTATATA TAGTATATATCATAAATATATACTATATTATATATAGTATATATCATAAA TATATACTATATTATATATAGTATATATCATAAATATATACTATATTATA TATAGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRUNE2_chr9_76606376_76911114	76791621	C C	CACCAGTT others(225): Show CACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTACAA TAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCAT TGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCA GTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATA CTGCACCAGTTATCATTGGTACAATAATACTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	240	0.0042	232	c.756 others(251): Show c.756+32010_756+32011insACAGTATTATTGTACCAATGATAACT GGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGTACCAA TGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTAT TGTACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGC AGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGTACCAATGATA ACTGGT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PUS7_chr7_105451503_105527271	105520478	T T	TGCTGTGC others(225): Show TGCTGTGCAAGCTGAAATTCGAGCCCTCCTCGTCAGCCCTGCGCAGAGGT GTTTAGAAGCACACCTTCGTTGCCTGCCGAGTAGGGTTGGCAAAGAGTTT AGTTTTTCAAATATTTGGTCCCGTCAGACTACTTTTTTTTTCCATTCCAA AAATAAAGGGTTACTAAGGTTCCCCCCCCATCCCCAAGCCTCTAATCATC TATGAAATGACTATGCCCCATTGGCCTGGGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0330 a0001c0001t0017g0330	1	350	0.0029	232	c.-33 others(249): Show c.-33+1573_-33+1574insTCCCCCAGGCCAATGGGGCATAGTCATT TCATAGATGATTAGAGGCTTGGGGATGGGGGGGGAACCTTAGTAACCCTT TATTTTTGGAATGGAAAAAAAAAGTAGTCTGACGGGACCAAATATTTGAA AAACTAAACTCTTTGCCAACCCTACTCGGCAGGCAACGAAGGTGTGCTTC TAAACACCTCTGCGCAGGGCTGACGAGGAGGGCTCGAATTTCAGCTTGCA CAGC	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PXDN_chr2_1626887_1749515	1719898	C C	CAGAGAGA others(225): Show CAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGA GAGAGAGGGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGA TGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGGGAGGGAGGGATGTAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0023 a0001c0006 a0001c0023	a0001c0006t0004 a0001c0023t0004 a0001c0006t0004 a0001c0023t0004	a0001c0006t0004g0232 a0001c0023t0004g0231 a0001c0006t0004g0232 a0001c0023t0004g0231	2	322	0.0062	232	c.200 others(251): Show c.200+24357_200+24358insCTCTACATCCCTCCCTCCCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCT CTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCC CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCT CTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720015	G G	GAGAGAGA others(225): Show GAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATGTAG AGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGC AGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGG ATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGG GATGCAGAGAGAGAGAGAGGGAGGGAGGGATGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG02135.hp2 HG00408.hp2 HG00558.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0026t0001g0261 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0026t0001g0261	3	322	0.0093	232	c.200 others(251): Show c.200+24240_200+24241insGCATCCCTCCCTCCCTCTCTCTCTCT CTGCATCCCTCCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTC TCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTC TCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTC TCTCTCTCTACATCCCTCCCCTCCCTCTCTCTCTGCATCCCTCCCTCTCT CTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(225): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTAATAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAATAGATATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	344	0.0029	232	c.38- others(247): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTAATAGATATATATAATAATATATATATC TA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(225): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAATAGATATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18972.hp1 NA18975.hp1 HG00621.hp2 NA18972.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0272 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0272	3	344	0.0087	232	c.38- others(247): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTAATAGAT ATATATAATAATATATATATCTAATAGATATATATAATAATATATATATC TA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(225): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTATTAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAATAGATATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	344	0.0029	232	c.38- others(247): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTAATAGAT ATATATAATAATATATATATCTAATAGATATATATAATAATATATATATC TA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(225): Show TATATATAATACATAATATATATTATATAATATATATAATACATAATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATATATATATAATATATATATATATTATATACATATACA ATATACATATATACAATATATATAATATATAATACATTATATTTTATATA ATATAGATAATACATTATATATATTATATAATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	220	0.0046	232	c.24+ others(249): Show c.24+13898_24+13899insTTATATAATATATATAATACATAATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATATATATATAATATATATATATATTATATACATATACA ATATACATATATACAATATATATAATATATAATACATTATATTTTATATA ATATAGATAATACATTATATATATTATATAATAATATATAATACATAATA TATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(225): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATATGTGTATATAT ATATGTGTATATATATGTGTATATATATATGTGTATATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	254	0.0039	232	c.-49 others(249): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATGTGTATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665009	A A	ATATATGT others(225): Show ATATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGT GTATATATATGTGTATATATATGTGTATATATATGTGTATATATATGTGT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTATAT ATATGTGTATATATATATGTGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0244 a0002c0009t0003g0244	1	254	0.0039	232	c.-49 others(249): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATGTGTATATATAT GTGTATATATATGTGTATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATGTGTATATATATATGTGTATATATATGTGT ATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(225): Show GCCCACCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCC ATCCCCCGTCCCCCGTCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCGTCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCCGTCCCCA TCCCCCACCCCCATCCCCCACCCCCCACCCCCCATCCCCCACCCCCGTCC CCCATCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0274 a0001c0001t0005g0274	1	452	0.0022	232	c.757 others(247): Show c.757-202_757-201insCCCCATCCCCCGTCCCCCGTCCCCCATCTC CTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCATCCCATCCCCCACC CCCATCCCCCGTCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCGTCCCC CGTCCCCCGTCCCCATCCCCCACCCCCATCCCCCACCCCCCACCCCCCAT CCCCCACCCCCGTCCCCCATCCCCCATCCCCCGTCCCCATCCCCCACCCC CA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6450775	A A	ATATATAC others(225): Show ATATATACATATATATATGTATATATATATATACATATATATATGTATAT ATATATATACATATATATATGTATATATATACACATATATATGTATATAT ATATACATATATATATGTATATATATATATATATGTATATATATATATAC ATATATGTATATATATATATACATATATATATGTATATATATATACATAT ATATATGTATATATATATATACATATATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0014 a0001c0001t0017g0014	1	68	0.0147	232	c.-64 others(253): Show c.-64+133724_-64+133725insCATATATATATGTATATATATATA TACATATATATATGTATATATATATATACATATATATATGTATATATATA CACATATATATGTATATATATATACATATATATATGTATATATATATATA TATGTATATATATATATACATATATGTATATATATATATACATATATATA TGTATATATATATACATATATATATGTATATATATATATACATATATATA TGTATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229866	G G	GAGGGAGG others(225): Show GAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGA GAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAA GGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGA GGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGA GGGAGGAAGGGAGAGAGAGGGAGGAAGAGGGGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	68	0.0147	232	c.27+ others(251): Show c.27+177771_27+177772insGAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGG AAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGG GAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGAGG GGAAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(225): Show TCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCT CCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTC TTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCC CTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	354	0.0028	232	c.365 others(247): Show c.365+415_365+416insCCCTCCCTCCTCCTCCCTCCTCCTCCCTCC TTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTC CCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTT CCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTC CT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(225): Show CATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATACA TACGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTA TGTGTATACATACATACGTATGTATGTGTATACATACATACGTATGTATG TGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	232	c.-24 others(243): Show c.-2450_-2449insACACATACATACGTATGTATACACATACATACGT ATGTATACACATACATACGTATGTATACACATACATACGTATGTATACAC ATACATACGTATGTATGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATACACATACATACGTATGTATACACATACATACGTAT GTATGTATACACATACATACGTATGTATGTATACACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RIN3_chr14_92508781_92693994	92547171	A A	ATCTTTAT others(225): Show ATCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAA AATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTAT TATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTT TATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAA ATTGTCTTTATTTTATTATTATAAAATAAATTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0130 a0001c0036t0001g0130	1	334	0.0030	232	c.45- others(247): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(225): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	280	0.0036	232	c.3+2 others(247): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGA AA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(225): Show GCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	396	0.0025	232	c.-76 others(241): Show c.-764_-763insCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24882027	G G	GATACATC others(225): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0177 a0003c0006t0001g0177	1	426	0.0024	232	c.23 others(243): Show c.2301_*2302insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2107		chr13	TogoVar
RTP5_chr2_241864729_241878823	241878128	C C	CCTCGCTC others(225): Show CCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTC GCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCACCCCATCCCTCTCCTCGC TCCCCTCCCTCTCCTGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCTGGCCGCCCCCCCCCCACCCCATCCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0009 a0006c0006t0007g0009	1	365	0.0027	232	c.48 others(243): Show c.4854_*4855insCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACC CCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCACCC CATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCCCCCCACCCCTTCCCT CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCC TCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCCACCCCATCCCTCTT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4306		chr2	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(225): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTT CCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA21309.hp2 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0164 a0001c0001t0033g0171 a0001c0001t0001g0164 a0001c0001t0033g0171	2	232	0.0086	232	c.77 others(243): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCC CCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(225): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0251 a0001c0001t0017g0251	1	370	0.0027	232	c.-30 others(251): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATATTGTA others(225): Show ATATTGTATATTATATAATATATTGTATATTATATAATATATTGTATATT GTATATTATATAATATATTGTATATTATATAATATATTGTATATTATATA TAATATATTGTATATTATATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATATTATATAATATATTGTATATTATATATTATAT AATATATTGTATATTATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0196 a0001c0003t0007g0196	1	366	0.0027	232	c.-15 others(243): Show c.-1544_-1543insCAATATATTATATAATATAATATACAATATATTA TATAATATATAATATACAATATATTATATAATATATAATATACAATATAT TATATAATATATAATATACAATATATTATATATAATATACAATATATTAT ATATAATATACAATATATTATATAATATACAATATATTATATAATATACA ATATACAATATATTATATAATATACAATATATTATATAATATACAATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATATTGTA others(225): Show ATATTGTATATTATATAATATATTGTATATTGTATAATATATTGTATATT GTATATTATATAATATATTGTATATTATATAATATATTGTATATTATATA TAATATATTGTATATTATATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATATTATATAATATATTGTATATTATATTATATAA TATATTGTATATTATATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02486.hp2 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0192 a0001c0003t0009g0193 a0001c0003t0009g0192 a0001c0003t0009g0193	2	366	0.0055	232	c.-15 others(243): Show c.-1544_-1543insCAATATATTATATAATATATAATATACAATATAT TATATAATATAATATACAATATATTATATAATATATAATATACAATATAT TATATAATATATAATATACAATATATTATATATAATATACAATATATTAT ATATAATATACAATATATTATATAATATACAATATATTATATAATATACA ATATACAATATATTATACAATATACAATATATTATATAATATACAATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SH3D19_chr4_151115281_151330605	151256047	A A	AGAGGGAG others(225): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0132 a0007c0008t0001g0132	1	282	0.0036	232	c.113 others(251): Show c.113-29962_113-29961insCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SHC2_chr19_411589_466033	431544	C C	CAGATAGA others(225): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCAGGCAGAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01074.hp2 others(5): Show HG00544.hp2 HG00621.hp1 HG01074.hp2 NA18940.hp2 NA18954.hp1 NA18985.hp2 NA18989.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010	a0001c0003t0001g0058 a0001c0003t0001g0062 a0001c0003t0001g0066 others(4): Show a0001c0003t0001g0058 a0001c0003t0001g0062 a0001c0003t0001g0066 a0001c0003t0002g0001 a0001c0003t0002g0111 a0001c0003t0002g0150 a0001c0003t0010g0077	8	212	0.0377	232	c.111 others(249): Show c.1111-798_1111-797insATCTGCCTGGCCTCCTCTATCTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCT CACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCT CTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCC GGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT ATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	431888	C C	CAGATGGC others(225): Show CAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	212	0.0047	232	c.111 others(251): Show c.1111-1142_1111-1141insATCTGCCCGGCCTCCTCTAACTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCTCT ATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCG CCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432205	C C	CGTGAGTG others(225): Show CGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAG ATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGG GCAGATAGATGGCGCTTCATCGTGAGTGAGATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0023 a0001c0006t0001g0023	1	212	0.0047	232	c.111 others(251): Show c.1111-1459_1111-1458insTATCTCACTCACGATGAAGCGCCATC TATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAA GCGCCATCTATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTC ACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTATCTCTC ACTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(225): Show GTATTATATATTATATAATATATAATATATAATGTATTATATATTATATA ATATATAATATATAATGTATTATATATTATATAATATATAATATATAATG TATTATATATTATATAATATATAATATATAATGTATTATATATTATATAA TATATAATATATAATGTATTATATATTATATAATATATAATATATAATAT ATAATACATTATTTATTATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02735.hp2 HG00544.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0066 a0001c0001t0001g0024 a0001c0001t0001g0066	2	290	0.0069	232	c.234 others(249): Show c.234-7088_234-7087insATATTATATATTATATAATAAATAATGT ATTATATATTATATATTATATATTATATAATATATAATACATTATATATT ATATATTATATAATATATAATACATTATATATTATATATTATATAATATA TAATACATTATATATTATATATTATATAATATATAATACATTATATATTA TATATTATATAATATATAATACATTATATATTATATATTATATAATATAT AATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHOX_chrX_625791_656584	628979	C C	CTCTCTGT others(225): Show CTCTCTGTCTCTCCCTGTGTGTTTCTCTATCTCCATCTCTCTGTCTCTCC CTTTCTCTCTCTCTGTCTCTCCCTCTCTCTCCCTGTCTGTGTCTCTCTTT CTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTTTCTCTCTCTCCATCT CTCTCCGTCTCTCCCTGTCTGTCTCTTTCTCTGTCTCCATCTCTCTCTGT CTCTCCTTGACTCTCTTTCTCTCTGTCTCCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA19003.hp2 NA18985.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0060 a0001c0001t0042 a0001c0001t0060	a0001c0001t0042g0145 a0001c0001t0060g0185 a0001c0001t0042g0145 a0001c0001t0060g0185	2	220	0.0091	232	c.-19 others(243): Show c.-1919_-1918insTCTCTGTCTCTCCCTGTGTGTTTCTCTATCTCCA TCTCTCTGTCTCTCCCTTTCTCTCTCTCTGTCTCTCCCTCTCTCTCCCTG TCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTT TCTCTCTCTCCATCTCTCTCCGTCTCTCCCTGTCTGTCTCTTTCTCTGTC TCCATCTCTCTCTGTCTCTCCTTGACTCTCTTTCTCTCTGTCTCCATG	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		1811		chrX	TogoVar

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