Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(299): Show TGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGGGATGGGGCCCG GAGTGGGGATGGGGCCCGGGGTGGGGATGGGGACCGGGGTGGGGACGGGG CCCGGGGTGGGGATGGCGACTGGGGTGGGGATGGCCACTGGGGTGGGAAT GGGGCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	432	0.0023	306	c.-83 others(323): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGTCCC CATCCCCACCCCGGGCCCCATCCCCACTCCGGGCCCCATCCCCACCCCGG GCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGCCATCCCCACC CCGGGCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCC CACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCA TCCCCACCCCGGGCCCCGTCCCCACCCC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(299): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGGGATGGGGCCCG GAGTGGGGATGGGGCCCGGGGTGGGGATGGGGACCGGGGTGGGGACGGGG CCCGGGGTGGGGATGGCGACTGGGGTGGGGATGGCCACTGGGGTGGGAAT GGGGCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0267 a0007c0007t0002g0267	1	432	0.0023	306	c.-83 others(323): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGTCCC CATCCCCACCCCGGGCCCCATCCCCACTCCGGGCCCCATCCCCACCCCGG GCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGCCATCCCCACC CCGGGCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCC CACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCA TCCCCACCCCGGGCCCCATCCCCACCCC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422641	G G	GGTGGGGA others(299): Show GGTGGGGACGGGGCCCGGGGTGGGGATGGGGACTGGGGTGGGGATGGGGC CCGGGGTGGGGACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATG GCGACTGGGGTGGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGG GATGGGGCCCGGAGTGGGGATGGGGCCCGGGGTGGGGATGGGGACCGGGG TGGGGACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGATGGCCACT GGGGTGGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGGGATGGG GCCCGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0015 a0007c0007t0015	a0007c0007t0015g0122 a0007c0007t0015g0122	1	432	0.0023	306	c.-83 others(323): Show c.-83-2912_-83-2911insTCCGGGCCCCATCCCCACCCCGGGCCCC ATTCCCACCCCAGTGGCCATCCCCACCCCAGTGGCCATCCCCACCCCGGG CCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGTCCCCATCCCCACCC CGGGCCCCATCCCCACTCCGGGCCCCATCCCCACCCCGGGCCCCATTCCC ACCCCAGTGGCCATCCCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGT CCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCAGTCC CCATCCCCACCCCGGGCCCCGTCCCCAC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7491380	T T	TAAGATTC others(299): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGACGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	68	0.0147	306	c.28- others(323): Show c.28-26754_28-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGACGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7491380	T T	TAAGATTC others(299): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01099.hp2 others(3): Show HG00140.hp1 HG00280.hp2 HG01099.hp2 HG02735.hp1 HG02735.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0025 a0001c0001t0002g0007 a0001c0001t0002g0016 others(3): Show a0001c0001t0001g0025 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0004g0057 a0001c0001t0031g0056 a0001c0001t0032g0068	6	68	0.0882	306	c.28- others(323): Show c.28-26754_28-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7491380	T T	TAAGATTC others(299): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01069.hp1 others(41): Show HG00140.hp1 HG00280.hp2 HG01069.hp1 HG01099.hp1 HG01256.hp1 HG01257.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp2 HG02040.hp1 HG02129.hp1 HG02129.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18951.hp2 NA18959.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18999.hp1 NA19009.hp1 NA19010.hp1 NA19077.hp2 NA19090.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0020 a0001c0031	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(17): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0030 a0001c0001t0037 a0001c0001t0041 a0001c0002t0002 a0001c0003t0004 a0001c0004t0007 a0001c0004t0045 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0024 a0001c0009t0001 a0001c0009t0011 a0001c0020t0001 a0001c0031t0007	a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0078 others(41): Show a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0006g0116 a0001c0001t0006g0168 a0001c0001t0016g0174 a0001c0001t0016g0176 a0001c0001t0018g0156 a0001c0001t0025g0139 a0001c0001t0030g0135 a0001c0001t0037g0048 a0001c0001t0041g0164 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0175 a0001c0003t0004g0140 a0001c0003t0004g0187 a0001c0004t0007g0115 a0001c0004t0045g0138 a0001c0006t0001g0007 a0001c0006t0002g0052 a0001c0007t0001g0150 a0001c0007t0001g0186 a0001c0007t0024g0084 a0001c0009t0001g0146 a0001c0009t0011g0198 a0001c0020t0001g0184 a0001c0031t0007g0133	44	234	0.1880	306	c.88- others(323): Show c.88-26754_88-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(299): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCA AGCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGG GTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGC ATGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTT TTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCAC CCGCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01106.hp2 others(12): Show HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01361.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02300.hp2 HG03098.hp1 HG03688.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA19000.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0028 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0038	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0070 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0002g0050 a0001c0001t0002g0079 a0001c0001t0003g0149 a0001c0001t0016g0082 a0001c0001t0028g0027 a0001c0001t0030g0040 a0001c0002t0001g0278 a0001c0002t0002g0255 a0001c0002t0003g0200 a0001c0002t0003g0250 a0001c0002t0015g0246 a0001c0002t0038g0262	15	280	0.0536	306	c.67- others(321): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATG CAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTG CCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGG CTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGC TGGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(299): Show ACCTCAGGTGATCTACCTGCCTCACCCTCCAAAATGCTGGGATTACAGAC GTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTGAGAC GCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGGCT CACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCAGCCTC CCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGTTTG TATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAG CTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0205 a0001c0002t0003g0205	1	377	0.0027	306	c.-18 others(317): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCAG CCTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGCT TCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGAGGGT GAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(299): Show ACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGA CGTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTGAGA CGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCTTGGC TCACCGCAACCTCTGCCTCCCGATTCAAGCCTTTCTCCTGCCTCAGCCTC CCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAATGTTTG TATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAG CTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0270 a0001c0002t0010g0270	1	377	0.0027	306	c.-18 others(317): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAAGGCTTGAA TCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCAGC CTGGGCGACAGAGTAAGACTGCGTCTCAAAAACAACAACAACAACGGCTT CTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGGGAGGCC GAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(299): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCT TCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCT CCCCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCC CTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCC CTCCTTC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	354	0.0028	306	c.365 others(321): Show c.365+415_365+416insCCCTCCTCCCTCCCTCCTCCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCC TTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCT CCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTC CCTCCCTCCTCCCCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTC CTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCC CCCCTCCTCCCTCCTTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RFX3_chr9_3213297_3531001	3504779	G G	GTATATAA others(299): Show GTATATAAAATATATATTATATGCTATATGGTATATATTGTATATAAAAT ATATATTATATGCTATATGGTATATATTGTATATAAAATATATATTATAT GCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGGTA TATATTGTATATAAAATATATTATATGCTATATGGTATATATTGTATATA AAATATATATTATATTATATATAAAATATATATTAATTATATTATATATA AAATATATATATTATATATAAAATATATATATTATATATAAAATATATAT TATATTA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	196	0.0051	306	c.-9+ others(323): Show c.-9+20967_-9+20968insTAATATAATATATATTTTATATATAATA TATATATTTTATATATAATATATATATTTTATATATAATATAATTAATAT ATATTTTATATATAATATAATATATATTTTATATACAATATATACCATAT AGCATATAATATATTTTATATACAATATATACCATATAGCATATAATATA TATTTTATATACAATATATACCATATAGCATATAATATATATTTTATATA CAATATATACCATATAGCATATAATATATATTTTATATACAATATATACC ATATAGCATATAATATATATTTTATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RIN3_chr14_92508781_92693994	92640736	G G	GTTTGCTG others(299): Show GTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGT GCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACT GTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCGTCAGGGGCTGCCTGA CTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCT GACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCT GACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGCCT GACTGCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0121 a0010c0009t0001g0121	1	334	0.0030	306	c.441 others(321): Show c.441-454_441-453insTGCGTTTGCTGGGAGATGCCTGACTGTGTG TTCATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTG TGTTCGTCAGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTG TGTGTTCATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGACTG TGTGTTCATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGACTG TGTGTTCGTCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGACTG TGTGTTCATCGGGGGCTGCCTGACTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92640736	G G	GTTTGCTG others(299): Show GTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGT GTGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACT GTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCGTCAGGGGCTGCCTGA CTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCT GACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCT GACTGCATTTGCTGGGAGATGCCTGACTGTGTGTTCGTCGGGGGCTGCCT GACTGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00733.hp2 others(21): Show HG00280.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01516.hp2 HG01884.hp2 HG02630.hp1 HG02698.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA20129.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0009 a0010	a0002c0002 a0003c0003 a0006c0005 others(4): Show a0002c0002 a0003c0003 a0006c0005 a0009c0008 a0009c0055 a0010c0009 a0010c0056	a0002c0002t0001 a0003c0003t0001 a0006c0005t0001 others(4): Show a0002c0002t0001 a0003c0003t0001 a0006c0005t0001 a0009c0008t0001 a0009c0055t0001 a0010c0009t0001 a0010c0056t0001	a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0275 others(21): Show a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0275 a0003c0003t0001g0286 a0006c0005t0001g0070 a0006c0005t0001g0071 a0006c0005t0001g0194 a0006c0005t0001g0196 a0006c0005t0001g0209 a0009c0008t0001g0094 a0009c0008t0001g0126 a0009c0008t0001g0147 a0009c0008t0001g0287 a0009c0008t0001g0305 a0009c0008t0001g0316 a0009c0055t0001g0308 a0010c0009t0001g0012 a0010c0009t0001g0078 a0010c0009t0001g0086 a0010c0009t0001g0091 a0010c0009t0001g0102 a0010c0009t0001g0138 a0010c0009t0001g0150 a0010c0056t0001g0050	24	334	0.0719	306	c.441 others(321): Show c.441-454_441-453insTGTGTTTGCTGGGAGATGCCTGACTGTGTG TTCATCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTG TGTTCGTCAGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTG TGTGTTCATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGACTG TGTGTTCATCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGACTG TGTGTTCGTCGGGGGCTGCCTGACTGCATTTGCTGGGAGATGCCTGACTG TGTGTTCATCGGGGGCTGCCTGACTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(299): Show TAATATATATATAAAAATATATATATATAATATATATATATAAAATATAT ATATATAATATATATATATAAAATATATATATATAATATATATATATAAA ATATATATATATAATATATATATATAAAATATATATATAAAATATATATA TAATATATATATATAAAATATATATATAAAATATATATATATAATATATA TATAAAATATATATATATATTATATATATATATAAAATATATATAAAATA TATATATAATATATATATAAAATATATATATAATATATATATAATATATA TATATAA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	410	0.0024	306	c.67- others(319): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(299): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATATAAATATATATATATAATATATA TATAAAATATATATATATATTATATATATATATAAAATATATATAAAATA TATATATAATATATATATAAAATATATATATAATATATATATAATATATA TATATAA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	410	0.0024	306	c.67- others(319): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTATA TATATATATTTTATATATATATATTATATATATATTTTATATATATATTT TATATATATATATTATATATATATATTTTATATATATATATTATATATAT ATATTTTATATATATATATTATATATATATATTTTATATATATATATTAT ATATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNF152_chr18_61803067_61898007	61897584	T T	TAAGAAAT others(299): Show TAAGAAATACTGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG06807.hp1 NA20300.hp2 HG03130.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0105 a0001c0001t0108 a0001c0001t0038 a0001c0001t0105 a0001c0001t0108	a0001c0001t0038g0182 a0001c0001t0105g0183 a0001c0001t0108g0180 a0001c0001t0038g0182 a0001c0001t0105g0183 a0001c0001t0108g0180	3	310	0.0097	306	c.-49 others(317): Show c.-4926_-4925insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCACCAGTATTTCTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding		4578		chr18	TogoVar
RPS4Y2_chrY_20751108_20786032	20756187	C C	CAGTATAG others(299): Show CAGTATAGACAGGGTTTCACTGTGTTGGCCAAGCTTGTGTCAGACTCCTG ACTTCATGAACCACCGACTCTGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCAAGCCTGGCCTCCAGCTTTTCTTTTCTTTTTCCTTTAACTGT AGAGAGAACACAACACAGTAACATCGACCATTTTTACCAATTTGTAAGCG CGTAACAGTGCCTAAAATGTTTTTGTTGTTATGTTTTGTTTGTCTTTGCA TTCAATTCCTTGATTCAAGTCTATAGGCACTGTATGTGCCAGCTAGCAAG ACAGCAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	131	0.0076	306	c.3+2 others(315): Show c.3+21_3+22insAGTATAGACAGGGTTTCACTGTGTTGGCCAAGCTTG TGTCAGACTCCTGACTTCATGAACCACCGACTCTGCCTCCCAAAGTGCTG GGATTACAGGCATGAGCCACCAAGCCTGGCCTCCAGCTTTTCTTTTCTTT TTCCTTTAACTGTAGAGAGAACACAACACAGTAACATCGACCATTTTTAC CAATTTGTAAGCGCGTAACAGTGCCTAAAATGTTTTTGTTGTTATGTTTT GTTTGTCTTTGCATTCAATTCCTTGATTCAAGTCTATAGGCACTGTATGT GCCAGCTAGCAAGACAGCAA	RPS4Y2	ENSG00000280969.2	transcript	ENST00000629237.2	protein_coding	1/6			chrY	TogoVar
RPTOR_chr17_80539838_80971368	80743911	C C	CCCTGGCT others(299): Show CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0053 a0001c0037t0053	a0001c0037t0053g0138 a0001c0037t0053g0138	1	196	0.0051	306	c.655 others(325): Show c.655-10094_655-10093insCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743911	C C	CCCTGGTT others(299): Show CCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19066.hp1 HG04204.hp2 NA19066.hp1	a0001 a0001	a0001c0096 a0001c0097 a0001c0096 a0001c0097	a0001c0096t0072 a0001c0097t0001 a0001c0096t0072 a0001c0097t0001	a0001c0096t0072g0171 a0001c0097t0001g0157 a0001c0096t0072g0171 a0001c0097t0001g0157	2	196	0.0102	306	c.655 others(325): Show c.655-10085_655-10084insCTATCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT CCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCA GAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACT AGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCC TGGTTACTAGCACTGTCCTGGTTACTAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744541	C C	CCCTGGTT others(299): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0032 a0001c0010t0032	a0001c0010t0032g0059 a0001c0010t0032g0059	1	196	0.0051	306	c.655 others(323): Show c.655-9464_655-9463insTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744595	T T	TCCTGGCT others(299): Show TCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0009 a0001c0061t0009	a0001c0061t0009g0040 a0001c0061t0009g0040	1	196	0.0051	306	c.655 others(323): Show c.655-9410_655-9409insCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744631	C C	CCCTGGCT others(299): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACAAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19007.hp1 HG01934.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0024 a0001c0003 a0001c0024	a0001c0003t0013 a0001c0024t0003 a0001c0003t0013 a0001c0024t0003	a0001c0003t0013g0043 a0001c0024t0003g0129 a0001c0003t0013g0043 a0001c0024t0003g0129	2	196	0.0102	306	c.655 others(323): Show c.655-9364_655-9363insAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACAAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744631	C C	CCCTGGCT others(299): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	196	0.0051	306	c.655 others(323): Show c.655-9364_655-9363insAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(299): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACA TACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	276	0.0036	306	c.494 others(325): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(299): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACA TACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	276	0.0036	306	c.494 others(325): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTTTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(299): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATGTGT ATATATACATATATACATATATGTATATACACATATATGTATATATACAT ATATGTACATATATGTGTATATATACATATATACACATATATGTATATAT ACATATATGTATATATACATATATGTATATATACACATATGTATATATAC ATATACGTATATATACATATATGTATATATACATATATGTATATATACGT ATATGTATATATACGTATATGTATATATACATATGTGTATATATACATAT ATATGTG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0122 a0001c0003t0001g0122	1	190	0.0053	306	c.731 others(325): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATACGTATATATACATATACGTATATATACATATATG TATATATACATATATGTATATATACGTATATGTATATATACATATGTGTA TATATACATATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTACATATATGTATATATACATATATG TGTATATACATATATGTATATATGTATATATACACATATATATATACATA TATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(299): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	210	0.0048	306	c.899 others(321): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(299): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(2): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG01168.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146	5	210	0.0238	306	c.899 others(321): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(299): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTAGA CAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATGGC TCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCT CCAAGGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18951.hp2 HG01256.hp2 NA18951.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0017 a0001c0001t0001 a0004c0004t0017	a0001c0001t0001g0178 a0004c0004t0017g0318 a0001c0001t0001g0178 a0004c0004t0017g0318	2	414	0.0048	306	c.678 others(321): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAATA AATAATTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAG GCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGG GCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(299): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTAGA CAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGC TCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCT CCAAGGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18612.hp1 HG02257.hp2 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0190 a0002c0002t0003g0224 a0002c0002t0003g0190 a0002c0002t0003g0224	2	414	0.0048	306	c.678 others(321): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAATA AATAATTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAG GCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGG GCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(299): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGA CAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATGGC TCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCT CCAAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02965.hp2 others(2): Show HG02109.hp1 HG02630.hp2 HG02965.hp2 HG03139.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0006 a0001c0001 a0004c0004 a0004c0006	a0001c0001t0008 a0004c0004t0008 a0004c0006t0008 a0001c0001t0008 a0004c0004t0008 a0004c0006t0008	a0001c0001t0008g0142 a0001c0001t0008g0144 a0004c0004t0008g0328 others(2): Show a0001c0001t0008g0142 a0001c0001t0008g0144 a0004c0004t0008g0328 a0004c0006t0008g0104 a0004c0006t0008g0105	5	414	0.0121	306	c.678 others(321): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAG GCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGG GCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(299): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGA CAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGC TCACTGCAGCCTCTAATTCTTGGCCTCAAGCAGTCCTCCCACCCCAGCCT CCAAGGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0022 a0004c0006t0022	a0004c0006t0022g0083 a0004c0006t0022g0083	1	414	0.0024	306	c.678 others(321): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGGCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAG GCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGG GCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(299): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGA CAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGC TCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCT CCAAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG03041.hp1 others(3): Show HG02055.hp1 HG02257.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp2 HG04184.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0015 a0002c0002t0020 others(2): Show a0002c0002t0002 a0002c0002t0015 a0002c0002t0020 a0002c0002t0031 a0003c0003t0027	a0002c0002t0002g0130 a0002c0002t0002g0254 a0002c0002t0015g0141 others(3): Show a0002c0002t0002g0130 a0002c0002t0002g0254 a0002c0002t0015g0141 a0002c0002t0020g0184 a0002c0002t0031g0186 a0003c0003t0027g0095	6	414	0.0145	306	c.678 others(321): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAG GCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGG GCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(299): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGT CAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGC TCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCT CCAAGGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0180 a0002c0002t0020g0180	1	414	0.0024	306	c.678 others(321): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGACTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAG GCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGG GCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(299): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAAC TGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTAGA CAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGGC TCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCT CCAAGGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0125 a0002c0002t0021g0125	1	414	0.0024	306	c.678 others(321): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAA TAAATAATTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAG GCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGG GCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(299): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGTTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAGA CAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATGGC TCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCCT CCAAGGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0290 a0004c0004t0001g0290	1	414	0.0024	306	c.678 others(321): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTAG GCTGAAGTGCAACGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTGG GCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCG5_chr15_32636710_32702092	32662486	T T	TGCTTTTC others(299): Show TGCTTTTCTTTTTCTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	415	0.0024	306	c.227 others(325): Show c.227-17271_227-17270insTTTCTTTTTCTTTTTCTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAGCTTTTCTT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(299): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02738.hp1 HG04199.hp1 HG02683.hp2 HG02738.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186	3	290	0.0103	306	c.464 others(319): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGTGAGGG others(299): Show GGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGGGGGGGGTGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGAGTG AGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGT GGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGT TGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGGTGGGGTGGGGGGGT TGAGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0156 a0005c0011t0001g0156	1	290	0.0035	306	c.464 others(319): Show c.464+82_464+83insTGAGGGGGGTGGGGTGGGGGGGTTGGGTGGGG GGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGG GGTGGGGTGGGGGGGTTGAGTGAG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(299): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	290	0.0035	306	c.166 others(323): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(299): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	290	0.0035	306	c.166 others(324): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444904	T T	TACACATA others(299): Show TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATACGTACGAATATATATACACATATATACGTACGAATA TATATACACATATATACGTACGAATATATATACACATATATACGTACGAA TATATATACACATATATTCGTACGAATATATATACACATATATTCGTACG AATATATATACACATATATTCGTACGAATATACACACATATATTCGTACG AATATACACACATATATTCGTACGAATATACACACATATATTCGTACGAA TATACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19065.hp1 NA18947.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0200 a0001c0002t0001g0140 a0001c0002t0001g0200	2	290	0.0069	306	c.114 others(325): Show c.1140+1854_1140+1855insGTGTATATTCGTACGAATATATGTGT GTATATTCGTACGAATATATGTGTGTATATTCGTACGAATATATGTGTGT ATATTCGTACGAATATATGTGTATATATATTCGTACGAATATATGTGTAT ATATATTCGTACGAATATATGTGTATATATATTCGTACGTATATATGTGT ATATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGT GTATATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATAT GTGTATATATATTCGTACGTATATATGTGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227601500	T T	TAGATTTG others(299): Show TAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0000 a0005c0005t0000	a0005c0005t0000g0000 a0005c0005t0000g0000	1	469	0.0021	306	c.22 others(317): Show c.2245_*2246insAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGG	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding		2246		chr2	TogoVar
SDK1_chr7_3296252_4274000	3976270	G G	GTCCTCCA others(299): Show GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCATGCAGA GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAG AGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGC AGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACA CAGAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0055 a0004c0055	a0004c0055t0055 a0004c0055t0055	a0004c0055t0055g0021 a0004c0055t0055g0021	1	116	0.0086	306	c.199 others(325): Show c.1994+1775_1994+1776insGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCATGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGG TCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACACAGAGGATCCTCCAGAGAATCACTGAG GGTCCCGGGGCTGAGGCTGCCACGCAGAGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(299): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0114 a0007c0016t0001g0114	1	116	0.0086	306	c.199 others(325): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(299): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCC CGGGGCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0029 a0029	a0029c0063 a0029c0063	a0029c0063t0007 a0029c0063t0007	a0029c0063t0007g0106 a0029c0063t0007g0106	1	116	0.0086	306	c.199 others(325): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATC CTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(299): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA20300.hp1 HG01978.hp1 NA20300.hp1	a0003 a0005 a0003 a0005	a0003c0001 a0005c0076 a0003c0001 a0005c0076	a0003c0001t0003 a0005c0076t0003 a0003c0001t0003 a0005c0076t0003	a0003c0001t0003g0037 a0005c0076t0003g0072 a0003c0001t0003g0037 a0005c0076t0003g0072	2	116	0.0172	306	c.199 others(325): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACACAG others(299): Show CCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0039 a0001c0011t0039	a0001c0011t0039g0061 a0001c0011t0039g0061	1	116	0.0086	306	c.199 others(325): Show c.1994+2656_1994+2657insCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(299): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	116	0.0086	306	c.199 others(325): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CGAGGCTG others(299): Show CGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGATGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0022 a0001c0046t0022	a0001c0046t0022g0091 a0001c0046t0022g0091	1	116	0.0086	306	c.199 others(325): Show c.1994+2667_1994+2668insACAGACGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGATGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 10000 hits)