Joint Open Genome and Omics Platform (JoGo)

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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
RBFOX1_chr16_6014024_7718340	6637301	A A	AATATATA others(166): Show AATATATATTTTATATAATATATAATATACAATATATATTGTATATTATA TATATAATATACAATATATATTGTATATTATATATATTATATAATATACA ATATATATTGTATATTATATATATTATATAATATACAATATATATTGTAT ATTATATAATATTATATAATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0031 a0001c0002t0028g0031	1	68	0.0147	173	c.-63 others(192): Show c.-63-17301_-63-17300insTATATATTTTATATAATATATAATAT ACAATATATATTGTATATTATATATATAATATACAATATATATTGTATAT TATATATATTATATAATATACAATATATATTGTATATTATATATATTATA TAATATACAATATATATTGTATATTATATAATATTATATAATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RCOR1_chr14_102587649_102735561	102676471	C C	CCCCCCCA others(166): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTGAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02004.hp2 HG02976.hp1 others(2): Show HG00733.hp2 HG02004.hp2 HG02976.hp1 HG03017.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0003g0028 others(2): Show a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0043 a0001c0001t0003g0046	5	292	0.0171	173	c.362 others(190): Show c.362-5379_362-5378insCCCCCCCGCCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(166): Show ACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00673.hp2 others(13): Show HG00323.hp1 HG00609.hp2 HG00673.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG03492.hp1 HG03654.hp1 NA18939.hp2 NA18952.hp2 NA18969.hp2 NA19056.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0023 a0001c0001t0028	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0072 others(13): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0010g0104 a0001c0001t0023g0078 a0001c0001t0028g0080	16	292	0.0548	173	c.362 others(190): Show c.362-5379_362-5378insCCCCCCGCCTCCCTCCCGGACGGGGCAG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(166): Show ACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01175.hp1 others(6): Show HG00280.hp1 HG00738.hp2 HG01175.hp1 HG01261.hp1 HG01975.hp1 HG02809.hp1 NA18951.hp1 NA18954.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0034 a0001c0002t0003 a0001c0002t0011	a0001c0001t0003g0003 a0001c0001t0003g0037 a0001c0001t0003g0038 others(6): Show a0001c0001t0003g0003 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0093 a0001c0001t0007g0034 a0001c0001t0011g0047 a0001c0001t0034g0039 a0001c0002t0003g0055 a0001c0002t0011g0054	9	292	0.0308	173	c.362 others(190): Show c.362-5379_362-5378insCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(166): Show ACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGACC	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19009.hp2 NA19011.hp1 others(1): Show HG04115.hp2 NA19009.hp2 NA19011.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0108 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0108 a0002c0007t0001g0141	4	292	0.0137	173	c.362 others(190): Show c.362-5379_362-5378insCCCCCGCCTCCCTCCCGGACGGGGCAGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(166): Show CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01358.hp2 HG01952.hp2 others(10): Show HG01167.hp2 HG01358.hp2 HG01952.hp2 HG01993.hp2 HG02622.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp1 NA18954.hp1 NA18995.hp1 NA19030.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0005t0037	a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0208 others(10): Show a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0208 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0284 a0001c0001t0004g0170 a0001c0001t0005g0059 a0001c0001t0005g0120 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0014g0199 a0001c0005t0037g0149	13	292	0.0445	173	c.362 others(190): Show c.362-5379_362-5378insCCCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIGI_chr9_32450302_32531196	32463889	C C	CTTTTTTT others(166): Show CTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCA CATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTG CACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCC TCCCCCCCTCCCCCGACCCCACCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	344	0.0029	173	c.233 others(192): Show c.2337+2400_2337+2401insTGGTGGGGTCGGGGGAGGGGGGGAGG GATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCA GCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTG CACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	16/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32463889	C C	CTTTTTTT others(166): Show CTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCT GCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCC CTCCCCCCTCCCCCGACCCCACCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG03098.hp2 others(6): Show HG01243.hp1 HG02647.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG06807.hp2 NA18906.hp1 NA18989.hp2 NA18992.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0003 a0003c0009t0007	a0001c0001t0001g0084 a0001c0001t0004g0154 a0001c0001t0004g0251 others(6): Show a0001c0001t0001g0084 a0001c0001t0004g0154 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0007g0253 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0002t0003g0093 a0003c0009t0007g0247	9	344	0.0262	173	c.233 others(192): Show c.2337+2400_2337+2401insTGGTGGGGTCGGGGGAGGGGGGAGGG ATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAG CGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGC ACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	16/17			chr9	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(166): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0022 a0001c0007t0001g0022	1	448	0.0022	173	c.48 others(184): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(166): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	448	0.0022	173	c.47 others(184): Show c.4781_*4782insTAATAATAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RNASE10_chr14_20500537_20518884	20505328	C C	CTCCCTCT others(166): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0065 a0003c0003t0065	a0003c0003t0065g0169 a0003c0003t0065g0169	1	396	0.0025	173	c.-69 others(182): Show c.-697_-696insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		208		chr14	TogoVar
ROCK2_chr2_11174759_11349636	11330945	G G	GGAGGAGG others(166): Show GGAGGAGGAGGGAGGATGGAGTAGGAGGGGGGAGGACGCAGTAGGAGGGG GGAGGAGGGGGGAGGAGGAGGGGGAGGGGGAGGAGGGAGTAGGAGGGGGG AGGAGGACGAGGGAGGAAGAGGAAAGAGGAGGGAGTAGGAGGGGAGGAGG AGGGAGGAGGAAGGAGGAGTGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02965.hp2 others(2): Show HG02559.hp2 HG02572.hp2 HG02965.hp2 HG02970.hp2 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0228 a0002c0005t0013g0229 a0002c0005t0013g0230 others(2): Show a0002c0005t0013g0228 a0002c0005t0013g0229 a0002c0005t0013g0230 a0002c0005t0013g0231 a0002c0005t0013g0232	5	320	0.0156	173	c.141 others(192): Show c.141+13050_141+13051insTCCCACTCCTCCTTCCTCCTCCCTCC TCCTCCCCTCCTACTCCCTCCTCTTTCCTCTTCCTCCCTCGTCCTCCTCC CCCCTCCTACTCCCTCCTCCCCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTACTGCGTCCTCCCCCCTCCTACTCCATCCTCCCTCCTCCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPH3AL_chr17_207389_357807	242936	A A	ACCTTCCT others(166): Show ACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGAT TACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTAT TGACTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	173	c.613 others(190): Show c.613+4174_613+4175insGTAATCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RSPH10B2_chr7_6749103_6803765	6797864	A A	ATACACAC others(166): Show ATACACACACACATATATATATACACACATATATATATACACACATATAT ATATACACACATATATATATACACACATATATATACACACATATATATAC ACACATATATATATACACACATATATACACACACACACATATATATATAC ACACACACACACATATATACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0089 a0014c0014t0001g0089	1	108	0.0093	173	c.243 others(190): Show c.2433-499_2433-498insTACACACACACATATATATATACACACA TATATATATACACACATATATATATACACACATATATATATACACACATA TATATACACACATATATATACACACATATATATATACACACATATATACA CACACACACATATATATATACACACACACACACATATATACACAC	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	20/20			chr7	TogoVar
RSPH1_chr21_42467486_42501224	42477027	G G	GCCCCCTC others(166): Show GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT GCCCCACACCCTCTGCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0119 a0002c0011t0001g0119	1	408	0.0025	173	c.727 others(188): Show c.727+263_727+264insTGGAGGGGGCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477027	G G	GCCCCCTC others(166): Show GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT GCCCTACACCCTCTGCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	408	0.0025	173	c.727 others(188): Show c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCATCCCC GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(166): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03834.hp2 HG03490.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0143 a0001c0002t0002g0082 a0001c0001t0002g0143 a0001c0002t0002g0082	2	408	0.0049	173	c.727 others(188): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(166): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCC CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	408	0.0025	173	c.727 others(188): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGT GGAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(166): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG04115.hp1 HG02027.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0352 a0001c0002t0003g0067 a0001c0001t0002g0352 a0001c0002t0003g0067	2	408	0.0049	173	c.727 others(188): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(166): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	408	0.0025	173	c.727 others(188): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(166): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGGTGCCCTACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0306 a0001c0001t0008g0306	1	408	0.0025	173	c.727 others(188): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC CCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG GGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(166): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGC CCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0362 a0001c0001t0003g0362	1	408	0.0025	173	c.727 others(186): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGAGG GGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(166): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0067	1	408	0.0025	173	c.727 others(186): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(166): Show CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC CCTACACCCTCTGCCCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	408	0.0025	173	c.727 others(186): Show c.727+65_727+66insAGTGGAGGGGGCAGAGGGTGTAGGGCACCCCC GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(166): Show CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18971.hp2 NA18994.hp2 NA18954.hp1 NA18971.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0342 a0001c0001t0002g0351 a0001c0001t0002g0334 a0001c0001t0002g0342 a0001c0001t0002g0351	3	408	0.0074	173	c.727 others(186): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RUBCN_chr3_197663867_197741904	197677730	T T	TTGTCCCA others(166): Show TTGTCCCACACTCTGACTGACAACTGGCTTCAGACTGTCCTACGCTCTAA CTCGACACCTGGCTTCAGACTGTCCCACACTCTGACTGACAGCTGGCTTC AGACTGTCCCACGCTCTAACTCGACAACTGGTTCCAGACTGTCCTATGCT CTAACTCGACACCTGGCTTCAGAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	186	0.0054	173	c.243 others(190): Show c.2431-362_2431-190dupGTCTGAAGCCAGGTGTCGAGTTAGAGCA TAGGACAGTCTGGAACCAGTTGTCGAGTTAGAGCGTGGGACAGTCTGAAG CCAGCTGTCAGTCAGAGTGTGGGACAGTCTGAAGCCAGGTGTCGAGTTAG AGCGTAGGACAGTCTGAAGCCAGTTGTCAGTCAGAGTGTGGGACA	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19			chr3	TogoVar
RXRA_chr9_134321455_134445585	134368942	A A	ATGTGTGT others(166): Show ATGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTGTGTGTGTGAGTGCG GGGCTTGTGTGTGTGTGTGGGGGGGGGTTATGTGTGTGTGGGGGGTTATG TGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGT GTGTGTGTGAGTGCCGGGGTTATG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02300.hp2 HG01934.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0123 a0001c0001t0001g0124	2	232	0.0086	173	c.29- others(190): Show c.29-32656_29-32655insGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGTTATGTGTGTGTGGGGGGTTATGTGTGTATGGGGGG TTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTG CCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(166): Show CCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0010 a0001c0002t0004g0010	1	342	0.0029	173	c.45 others(184): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGGAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAAGAGAAAAGGAAGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(166): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0002t0003 a0001c0006t0001 a0001c0008t0001 a0002c0005t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0009g0012 a0001c0001t0010g0013 a0001c0001t0013g0025 a0001c0001t0014g0026 a0001c0001t0015g0027 a0001c0001t0017g0059 a0001c0002t0003g0002 a0001c0006t0001g0024 a0001c0008t0001g0033 a0002c0005t0001g0014 a0003c0007t0001g0029	211	342	0.6170	173	c.45 others(184): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(166): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTTCCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 NA19002.hp1 HG00738.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0004 a0001c0001t0016g0058 a0001c0001t0002g0004 a0001c0001t0016g0058	2	342	0.0059	173	c.45 others(184): Show c.4567_*4568insAGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SARDH_chr9_133658560_133743352	133669176	C C	CACCCTCC others(166): Show CACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCT CATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCC CTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCC TCTCCCTCACCCTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0187 a0001c0016t0003g0187	1	262	0.0038	173	c.249 others(192): Show c.2495+1407_2495+1408insAAGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGG AAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAG GGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669176	C C	CACCCTCC others(166): Show CACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCT CATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCC CTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCC TCTCCCTCACCTTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18952.hp1 HG03579.hp1 NA18952.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0004 a0003c0003t0004 a0002c0002t0004 a0003c0003t0004	a0002c0002t0004g0229 a0003c0003t0004g0003 a0002c0002t0004g0229 a0003c0003t0004g0003	2	262	0.0076	173	c.249 others(192): Show c.2495+1407_2495+1408insAAGGGAGAGGGAAGGTGAGGGAGAGG GAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGG AAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAG GGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCART1_chr10_133448945_133474760	133472683	A A	AGTTGAGT others(166): Show AGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTGTGGCGTC TCCCTTCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCT GGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTG GCGTCTCCCTCCTGAGATCTGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0004 a0011c0016t0004	a0011c0016t0004g0050 a0011c0016t0004g0050	1	434	0.0023	173	c.47 others(184): Show c.4715_*4716insGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTC GTTGAGTGTGGCGTCTCCCTTCTGAGATCTGGTCAGTTGAGTGTGGCGTC TCCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCT GGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTC	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2924		chr10	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCC others(166): Show TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	290	0.0035	173	c.166 others(190): Show c.1663-422_1663-421insTCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA5A_chr5_9030033_9551075	9353319	G G	GAAGGAAA others(166): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCAAAGGAAAGGAAAGGA AAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAAATGAAAGGAAATGAA AGGAAAGGAAAGGGAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01515.hp1 HG01517.hp1 HG00735.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0006t0014 a0001c0001t0015 a0001c0006t0014	a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0006t0014g0060 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0006t0014g0060	3	134	0.0224	173	c.125 others(192): Show c.125-15508_125-15507insTCCTTTCCTTCCCTTTCCTTTCCTTT CATTTCCTTTCATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTC CTTTCCTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353339	A A	AAAGGAAA others(166): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0039 a0001c0004t0001g0039	1	134	0.0075	173	c.125 others(192): Show c.125-15528_125-15527insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(166): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0048 a0001c0003t0010g0048	1	134	0.0075	173	c.125 others(192): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(166): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGG AAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAA GGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	134	0.0075	173	c.125 others(192): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCCTT CCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTGCTTCC CTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(166): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 homoSapiens_chm13v2.hp1 HG00280.hp1 HG01123.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0052 a0001c0006t0001 a0001c0007t0017 a0001c0005t0052 a0001c0006t0001 a0001c0007t0017	a0001c0005t0052g0097 a0001c0006t0001g0078 a0001c0007t0017g0084 a0001c0005t0052g0097 a0001c0006t0001g0078 a0001c0007t0017g0084	3	134	0.0224	173	c.125 others(192): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(166): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00639.hp1 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0039 a0001c0001t0028 a0001c0001t0039	a0001c0001t0028g0006 a0001c0001t0039g0072 a0001c0001t0028g0006 a0001c0001t0039g0072	2	134	0.0149	173	c.125 others(192): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353359	A A	AAAGGAAA others(166): Show AAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCAAAGGA AAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAAATGAA AGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	134	0.0075	173	c.125 others(192): Show c.125-15548_125-15547insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTT CATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTC CTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77484974	T T	TGATGCTG others(166): Show TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGT GATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGG TGATTGTGATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0135 a0001c0001t0010g0135	1	150	0.0067	173	c.914 others(190): Show c.914-2446_914-2445insCTGGTGATTGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484974	T T	TGATGCTG others(166): Show TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGT GATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGG TGATTGTGATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	158	0.0063	173	c.860 others(190): Show c.860-2446_860-2445insCTGGTGATTGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(166): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCTCCCCTCCCCTTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCC TTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCGCTCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0067 a0001c0001t0007g0067	1	214	0.0047	173	c.691 others(192): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCTCCCCTCCCCTTCCCCTCCCTTCCCCTTCCCCTTC CCCTTCCCCTTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCGCTCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIMC1_chr5_176233424_176350989	176305502	C C	CGGCAGCT others(166): Show CGGCAGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCAC CCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGG AGGGAGATGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG GGGGGGGGGGTCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	360	0.0028	173	c.173 others(192): Show c.1735-8186_1735-8185insAGCTGCCCGGTCTGAGAAGTGAGGAG CCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCC CGGCAGCCACCCCGTCCGGGAGGGAGATGGGGGGTCAGCCCCGACGCCCG GCCAGCCGTGCCATCCGGGGGGGGGGGGGGTCAGCCCCCCGCCTGGC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305678	C C	CGGCAGCT others(166): Show CGGCAGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCAC CCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGG AGGGAGATGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG GGGGGGGGGGTCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	360	0.0028	173	c.173 others(192): Show c.1735-8010_1735-8009insAGCTGCCCGGTCTGAGAAGTGAGGAG CCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCC CGGCAGCCACCCCGTCCGGGAGGGAGATGGGGGGTCAGCCCCGACGCCCG GCCAGCCGTGCCATCCGGGGGGGGGGGGGGTCAGCCCCCCGCCTGGC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKI_chr1_2223319_2315213	2281712	A A	AGATCTTC others(166): Show AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACA CCCGAGAAGACAGGCGGCGGCGGC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0120 a0001c0001t0088g0120	1	330	0.0030	173	c.970 others(192): Show c.970-21208_970-21207insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGACACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281812	A A	AGAGATGC others(166): Show AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA AGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGTGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	330	0.0030	173	c.970 others(192): Show c.970-21165_970-21164insAGATGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281812	A A	AGAGATGC others(166): Show AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGG CGGCGGCGGTGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	330	0.0030	173	c.970 others(192): Show c.970-21165_970-21164insAGATGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281841	A A	AGATCTTC others(166): Show AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACA CCCGAGAAGACAGGCGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0136 a0001c0001t0015g0136	1	330	0.0030	173	c.970 others(192): Show c.970-21079_970-21078insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGACACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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