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
PSMF1_chr20_1113602_1177246	1150048	T T	TGTGACCC others(303): Show TGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	326	0.0031	310	c.552 others(329): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRM_chr18_7562316_8411856	7692354	T T	TGGAGGAT others(303): Show TGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGA TCCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAG GAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGC TAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGT TAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGAT GGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAG GTTAAGGAGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG03486.hp1 HG02258.hp2 HG02886.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0009 a0001c0003 a0001c0005 a0002c0009	a0001c0003t0001 a0001c0005t0004 a0002c0009t0001 a0001c0003t0001 a0001c0005t0004 a0002c0009t0001	a0001c0003t0001g0018 a0001c0005t0004g0068 a0002c0009t0001g0067 a0001c0003t0001g0018 a0001c0005t0004g0068 a0002c0009t0001g0067	3	80	0.0375	310	c.74- others(327): Show c.74-81759_74-81758insGAGGATGGCTAGATCCCAGGAGGTTAAG GAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGG CTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGT TAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGA TGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGA GGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGCGGAG GATGGCTAGATCCCAGGAGGTTAAGGAGGTGG	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB11FIP3_chr16_420649_528011	492487	T T	TTCCCGGG others(303): Show TTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGG CCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGC CCAGAGCCCTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	295	0.0034	310	c.126 others(329): Show c.1265+3487_1265+3488insTCCCGGGGAGACCCGAGGCCGTCCAG AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCT CCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGC CCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGC CCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(303): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	340	0.0029	310	c.24- others(325): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCG TATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(303): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	340	0.0029	310	c.24- others(325): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCG TATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(303): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02148.hp2 HG02622.hp1 others(4): Show HG02145.hp1 HG02148.hp2 HG02622.hp1 HG02723.hp2 HG04204.hp1 NA18970.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0147 others(4): Show a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0252	7	340	0.0206	310	c.24- others(325): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCG TATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(303): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0263 a0001c0001t0034g0263	1	354	0.0028	310	c.269 others(325): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAATAGCAATTG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
RALGAPA2_chr20_20384530_20717644	20687481	T T	TAAAAATG others(303): Show TAAAAATGTGGCAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0037 a0001c0007t0037	a0001c0007t0037g0085 a0001c0007t0037g0085	1	122	0.0082	310	c.107 others(327): Show c.107-6681_107-6680insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCACTGCCACATTTTT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	1/39			chr20	TogoVar
RASAL2_chr1_178089104_178483850	178428464	T T	TGATTTTA others(303): Show TGATTTTAGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	180	0.0056	310	c.674 others(327): Show c.674+7857_674+7858insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGATTTTAGCTTTT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAVER1_chr19_10311212_10338529	10337272	C C	CTGGGTGT others(303): Show CTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCTG TAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAAG TTCGAGACCAGCTTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	438	0.0023	310	c.-37 others(321): Show c.-3766_-3765insACTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATGTTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATCTGCCTG CCTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGG CCTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTGGAGATGGAGTCTCACTC TGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCAACCTCC ACCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGG ACTACAGGTGTGTACTACCACACCCA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		3744		chr19	TogoVar
RAVER1_chr19_10311212_10338529	10337272	C C	CTGGGTGT others(303): Show CTGGGTGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCTG TAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAAG TTCGAGACCAGCTTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG00741.hp1 others(51): Show HG00408.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02738.hp1 HG03098.hp1 HG03239.hp1 HG03516.hp2 HG03654.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18940.hp1 NA18941.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18957.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA19002.hp2 NA19055.hp2 NA19064.hp2 NA19086.hp2 NA19089.hp2 NA20752.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0017 a0001c0025 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0013t0003 a0001c0017t0002 a0001c0025t0002 a0011c0019t0003	a0001c0001t0001g0030 a0001c0001t0001g0269 a0001c0001t0001g0270 others(37): Show a0001c0001t0001g0030 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0071 a0001c0001t0002g0203 a0001c0001t0002g0246 a0001c0001t0003g0003 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0137 a0001c0001t0003g0229 a0001c0001t0003g0233 a0001c0002t0001g0161 a0001c0002t0001g0252 a0001c0003t0002g0277 a0001c0003t0002g0279 a0001c0003t0004g0031 a0001c0003t0004g0273 a0001c0003t0004g0275 a0001c0003t0004g0278 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0013t0003g0084 a0001c0017t0002g0276 a0001c0025t0002g0248 a0011c0019t0003g0104	54	438	0.1233	310	c.-37 others(321): Show c.-3766_-3765insACTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATGTTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATCTGCCTG CCTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGG CCTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTGGAGATGGAGTCTCACTC TGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCAACCTCC ACCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGG ACTACAGGTGTGCACTACCACACCCA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		3744		chr19	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(303): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCA CCCAAGCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTC CCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTAC AGGCATGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGG GGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAA CCACCCGCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01099.hp1 HG01109.hp2 others(28): Show HG00597.hp1 HG01099.hp1 HG01109.hp2 HG01243.hp1 HG01891.hp2 HG02132.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18951.hp2 NA18954.hp1 NA19010.hp1 NA19010.hp2 NA19063.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0041 a0001c0001t0046 a0001c0001t0068 a0001c0001t0074 a0001c0001t0080 a0001c0005t0009	a0001c0001t0001g0004 a0001c0001t0001g0151 a0001c0001t0001g0153 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0002g0129 a0001c0001t0002g0169 a0001c0001t0003g0161 a0001c0001t0003g0222 a0001c0001t0003g0271 a0001c0001t0005g0229 a0001c0001t0006g0157 a0001c0001t0006g0180 a0001c0001t0007g0122 a0001c0001t0007g0162 a0001c0001t0010g0225 a0001c0001t0010g0227 a0001c0001t0011g0159 a0001c0001t0011g0201 a0001c0001t0012g0114 a0001c0001t0012g0156 a0001c0001t0014g0198 a0001c0001t0014g0264 a0001c0001t0017g0179 a0001c0001t0021g0147 a0001c0001t0021g0189 a0001c0001t0041g0184 a0001c0001t0046g0087 a0001c0001t0068g0158 a0001c0001t0074g0155 a0001c0001t0080g0097 a0001c0005t0009g0134	31	280	0.1107	310	c.67- others(325): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAAT GATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCT TCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGC CCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCC AGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(303): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 HG03579.hp1 HG02717.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0298 a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0006g0298 a0001c0001t0006g0299 a0001c0001t0006g0300	3	304	0.0099	310	c.66+ others(325): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RER1_chr1_2386841_2410436	2401350	T T	TCCCTCCT others(303): Show TCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCC TCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCC CTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCCCTC CCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCC TTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCC TCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	354	0.0028	310	c.365 others(325): Show c.365+415_365+416insCCCTCCTCCTCCCTTCTTCCTCCCTCCTCC CTCCCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCC CTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCT TCTTCCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCT CCCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCT CCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTC CCTCCTCCTCCCTCCTTCCTCCCTCCCTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6			chr1	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(303): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19043.hp1 HG03831.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0006 a0001c0007t0001 a0001c0004t0006 a0001c0007t0001	a0001c0004t0006g0146 a0001c0007t0001g0008 a0001c0004t0006g0146 a0001c0007t0001g0008	2	204	0.0098	310	c.128 others(331): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RGPD5_chr2_109789305_109862705	109794584	G G	GGGGGAGG others(303): Show GGGGGAGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGC GGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCG GCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCC GGCCGGGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGC CCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGG GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGC CGGGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	40	0.0250	310	c.72+ others(321): Show c.72+49_72+50insGGAGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCG GCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCC TCGGCCCCGGCCCGGCCGGGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCG GCCCCGGCCCGGCCGGGGGGCGGCGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130483273	G G	GGGGGCAC others(303): Show GGGGGCACACCTCATCCAAATACACCCATTGTGTGTGTACATGTGTCAGA TTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGT ACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACC CATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCA TCCAAATACACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGG GGGCAGACCTCATCCAGATATACCGATTGTGTGTGTACATGTGTCACATT CTGCAGGGGAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	180	0.0056	310	c.-3- others(325): Show c.-3-4258_-3-4257insATCCCCTGCAGAATGTGACACATGTACACA CACAATCGGTATATCTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGA CACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCC TGCAGAATCTGACACATGTACACACACAATGGGTGTATTGGGATGAGGTC TGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAT TGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACA CAATGGGTGTATTTGGATGAGGTGTGCCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130483273	G G	GGGGGCAG others(303): Show GGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGTACATGTGTCAGA TTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACCCATTGTGTGTGT ACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAAATACACC CACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCA TCCAAATACACCCACTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGG GGGCACACCTCATCCAGATATACCGATTGTGTGTGTACATGTGTCACATT CTGCAGGGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	180	0.0056	310	c.-3- others(325): Show c.-3-4258_-3-4257insATCCCCTGCAGAATGTGACACATGTACACA CACAATCGGTATATCTGGATGAGGTGTGCCCCCTCCCCTGCAGAATCTGA CACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCC TGCAGAATCTGACACATGTACACACACAGTGGGTGTATTTGGATGAGGTC TGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAT TGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACA CAATGGGTGTATTGGGATGAGGTCTGCCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMS1_chr6_71881550_72408145	72043662	T T	TGCTAATG others(303): Show TGCTAATGTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTG CAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0091 a0001c0003t0016g0091	1	140	0.0071	310	c.246 others(329): Show c.246-53273_246-53272insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGAC TGCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGGCTAATGTACTATT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24832814	T T	TAAGAGCA others(303): Show TAAGAGCAGGTTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAGTCC CAGCTACACAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	328	0.0031	310	c.220 others(327): Show c.2209-424_2209-423insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGC CACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCG GCCTCCCAAAGTGCTGGGATTAACCTGCTCTT	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	15/21			chr6	TogoVar
RNF150_chr4_140854807_141138469	141110579	T T	TTTAATTT others(303): Show TTTAATTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTATAGGC ACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTTTTTTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0160 a0001c0001t0066g0160	1	184	0.0054	310	c.484 others(329): Show c.484+21745_484+21746insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAA AAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTATAGTCCCAGC TACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AAACTCCGTCTCAAAAAAAAAAAAAAAAAATTAA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61897584	T T	TAAGAAAT others(303): Show TAAGAAATACTGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0109 a0001c0001t0013 a0001c0001t0014 a0001c0001t0109	a0001c0001t0013g0084 a0001c0001t0014g0095 a0001c0001t0109g0072 a0001c0001t0013g0084 a0001c0001t0014g0095 a0001c0001t0109g0072	3	310	0.0097	310	c.-49 others(321): Show c.-4926_-4925insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCAGTATTTCTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding		4578		chr18	TogoVar
RNF220_chr1_44400255_44656723	44468135	T T	TAAAAAAA others(303): Show TAAAAAAATGGCACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01891.hp2 others(26): Show HG00099.hp1 HG00140.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02074.hp2 HG02080.hp1 HG02451.hp2 HG02602.hp1 HG02717.hp2 HG02735.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18963.hp2 NA18979.hp1 NA19043.hp1 NA19081.hp2 NA19084.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0002t0002 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0003g0043 a0001c0001t0006g0011 a0001c0001t0007g0180 a0001c0001t0010g0163 a0001c0001t0017g0071 a0001c0002t0002g0010 a0002c0005t0001g0008	29	218	0.1330	310	c.625 others(329): Show c.625+55429_625+55430insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATGGCACTGA	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF220_chr1_44400255_44656723	44468135	T T	TAAAAAAA others(303): Show TAAAAAAATGGCACTGAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	218	0.0046	310	c.625 others(329): Show c.625+55429_625+55430insGGCCGGGTGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATGGCACTGA	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(303): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02818.hp1 HG03098.hp2 HG02735.hp1 HG02818.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0015 a0001c0001t0001 a0002c0002t0015	a0001c0001t0001g0171 a0002c0002t0015g0005 a0002c0002t0015g0006 a0001c0001t0001g0171 a0002c0002t0015g0005 a0002c0002t0015g0006	3	320	0.0094	310	c.324 others(325): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RPH3AL_chr17_207389_357807	333137	C C	CGGCCATT others(303): Show CGGCCATTAGAGCTCACCACCCCGGGCGTTCGTCACTGCAGACATCACTG CAGACACAGAGAAGGCCATTAGAGCTCACCACCCCGGGCATTCGTCACTG CAGACATCACTGCAGACACAGAGACGGCCATTAGAGCTCACCACCCCGGG CGTTCGTCACTGCAGACATCACTGCAGACACAGAGAAGGCCATTAGAGCT CACCACCCCGGGCATTCGTCACTGCAGACATCACTGCAGACACAGAGAAG GCCATTAGAGCTCACCACCCCGGGCATTCGTCACTGCAGACATCACTGCA GACACAGAGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	310	c.-37 others(325): Show c.-37+621_-37+622insTTCTCTGTGTCTGCAGTGATGTCTGCAGTG ACGAATGCCCGGGGTGGTGAGCTCTAATGGCCTTCTCTGTGTCTGCAGTG ATGTCTGCAGTGACGAATGCCCGGGGTGGTGAGCTCTAATGGCCTTCTCT GTGTCTGCAGTGATGTCTGCAGTGACGAACGCCCGGGGTGGTGAGCTCTA ATGGCCGTCTCTGTGTCTGCAGTGATGTCTGCAGTGACGAATGCCCGGGG TGGTGAGCTCTAATGGCCTTCTCTGTGTCTGCAGTGATGTCTGCAGTGAC GAACGCCCGGGGTGGTGAGCTCTAATGGCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	2/9			chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(303): Show CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCA CAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCA CACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG ACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18998.hp1 NA19057.hp1 others(2): Show NA18939.hp1 NA18998.hp1 NA19057.hp1 NA19070.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0271 a0001c0001t0003g0328 a0001c0001t0003g0002 a0001c0001t0003g0271 a0001c0001t0003g0328	5	408	0.0123	310	c.727 others(323): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA TCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCA GAGGGTGTGGGGCATCCCCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(303): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATATGT GTATATATACATATATACACATATATGTATATACACATATATGTATATAT ACATATATATACATATATGTGTATATATACATATATACACATATATGTAT ATACACATATATGTATATATACATATACGTATATATACATATACGTATAT ATACATATACGTATATATACATATATGTATATATACATATATGTATATAT ACGTATATGTATATATACACATATGTATATATACATATGTGTATATATAC ATATATATGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0181 a0001c0002t0003g0181	1	190	0.0053	310	c.731 others(329): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATGTGTATATATACATATACGTATATATACATATATG TATATATACATATATGTATATATACGTATATGTATATATACGTATATGTA TATATACGTATATGTATATATACATATATGTGTATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATATA CATATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(303): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATATGT GTATATATACATATATACACATATATGTATATACACATATATGTATATAT ACATATATATACATATATGTGTATATATACATATATACACATATATGTAT ATATACATATATGTATATATACATATACGTATATATACATATATGTATAT ATACATATACGTATATATACATATACGTATATATACATATATGTATATAT ACATATATGTATATATACACATATGTATATATACATATGTGTATATATAC ATATATATGTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	190	0.0053	310	c.731 others(329): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATGTGTATATATACATATATGTATATATACATATATG TATATATACGTATATGTATATATACGTATATGTATATATACATATATGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATATA CATATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(303): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATATGT GTATATATACATATATACACATATATGTATATACACATATATGTATATAT ACATATATATACATATATGTGTATATATACATATATACACATATATGTAT ATATACATATATGTATATATACATATACGTATATATACATATATGTATAT ATACATATACGTATATATACATATATGTATATATACATATACGTATATAT ACATATATGTATATATACGTATATGTATATATACATATGTGTATATATAC ATATATATGTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0092 a0001c0002t0054g0092	1	190	0.0053	310	c.731 others(329): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATACGTATATATACATATATGTATATATACGTATATG TATATATACATATATGTATATATACGTATATGTATATATACATATATGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATATA CATATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(303): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATATGT GTATATATACATATATACACATATATGTATATACACATATATGTATATAT ACATATATATACATATATGTGTATATATACATATATACACATATATGTAT ATATACATATATGTATATATACATATACGTATATATACATATATGTATAT ATACATATACGTATATATACATATATGTATATATACATATATGTATATAT ACATATATGTATATATACACATATGTATATATACATATGTGTATATATAC ATATATATGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	190	0.0053	310	c.731 others(329): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATGTGTATATATACATATATGTATATATACATATATG TATATATACATATATGTATATATACGTATATGTATATATACATATATGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATATA CATATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645946	A A	ACATATAT others(303): Show ACATATATGTGTATATATGTATATACACATATATGTATATATATATATGT GTATATATACATATATACACATATATGTATATACACATATATGTATATAT ACATATATATACATATATGTGTATATATACATATATACACATATATGTAT ATATACATATATGTATATATACATATACGTATATATACATATATGTATAT ATACATATACGTATATATACATATATGTATATATACATATATGTATATAT ACGTATATGTATATATACACATATGTATATATACATATGTGTATATATAC ATATATATGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0089 a0001c0002t0005g0089	1	190	0.0053	310	c.731 others(329): Show c.731+49076_731+49077insCACATATATATGTATATATACACATA TGTATATATACATATGTGTATATATACATATACGTATATATACATATATG TATATATACATATATGTATATATACGTATATGTATATATACATATATGTA TATATACGTATATGTATATATACATATATGTATATATACATATATGTGTA TATATGTATATATACACATATATGTATATATATGTATATATACATATATG TGTATATACATATATGTGTATATATGTATATATACACATATATATATATA CATATATGTGTATATACATATATACACATATATG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTF1_chr15_41412095_41488563	41430010	T T	TTTTTTTT others(303): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTAT TTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01928.hp2 HG02004.hp2 others(13): Show HG00609.hp1 HG01928.hp2 HG02004.hp2 HG02165.hp2 HG02273.hp1 NA18943.hp2 NA18944.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp2 NA18983.hp2 NA18986.hp2 NA19011.hp2 NA19063.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0029 a0001c0001t0004 a0001c0001t0013 a0001c0001t0029	a0001c0001t0004g0177 a0001c0001t0004g0181 a0001c0001t0004g0183 others(13): Show a0001c0001t0004g0177 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0206 a0001c0001t0013g0024 a0001c0001t0013g0204 a0001c0001t0029g0203	16	226	0.0708	310	c.199 others(327): Show c.199-8311_199-8310insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCTTATTTTTTCTTTTC	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17			chr15	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(303): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03098.hp1 NA18986.hp1 others(1): Show HG01517.hp2 HG03098.hp1 NA18986.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0073 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0097	4	210	0.0191	310	c.899 others(325): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAAL1_chr11_18075292_18111082	18092960	T T	TAAAAGTA others(303): Show TAAAAGTACTAAATAGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTCGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0119 a0001c0016t0001g0119	1	284	0.0035	310	c.334 others(325): Show c.334-637_334-636insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACTGCGCCCGGCCCTATTTAGTACTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding	3/11			chr11	TogoVar
SAMD11_chr1_918923_949574	934297	G G	GGCTCCGT others(303): Show GGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGC GGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	434	0.0023	310	c.843 others(327): Show c.843-1472_843-1471insCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCT GCTCCGTTACAGGTGGGCGGGGGGGGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(303): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTT TAGACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCA TGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCA GCCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0024 a0004c0006t0024	a0004c0006t0024g0090 a0004c0006t0024g0090	1	414	0.0024	310	c.678 others(325): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAA TAATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCAC CTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTC CTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284138	T T	TGGGGGGG others(303): Show TGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGTGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GTTGGGTGAGG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	1	290	0.0035	310	c.464 others(323): Show c.464+52_464+53insGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGA GGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGTG TGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGG GTGAGGGGTTGGGGTTGGGTGAGGGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52923161	T T	TAAAAAAA others(303): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02896.hp2 others(3): Show HG02055.hp1 HG02109.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0008 a0001c0001t0006 a0001c0003t0008	a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0035 others(3): Show a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0003t0008g0032	6	280	0.0214	310	c.-42 others(321): Show c.-4236_-4235insAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding		4114		chr1	TogoVar
SCTR_chr2_119434843_119529483	119444820	T T	TATATACA others(303): Show TATATACACATATATTCGTATGAATATATACACATATATTCGTATGAATA TATACACATATATTCGTATGAATATATACACATATATTCGTATGAATATA TACACATATATTCGTATGAATATATACACATATATTCGTATGAATATATA CACATATATTCGTATGAATATATACACATATATTCGTATGAATATATACA CATATATTCGTATGAATATATACACATATATTCGTATGAATATATACACA TATATTCGTATGAATATATACACATATATTCGTATGAATATATACACATA TATTCGTATGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0026 a0001c0005t0004g0026	1	290	0.0035	310	c.114 others(329): Show c.1140+1938_1140+1939insTCATACGAATATATGTGTATATATTC ATACGAATATATGTGTATATATTCATACGAATATATGTGTATATATTCAT ACGAATATATGTGTATATATTCATACGAATATATGTGTATATATTCATAC GAATATATGTGTATATATTCATACGAATATATGTGTATATATTCATACGA ATATATGTGTATATATTCATACGAATATATGTGTATATATTCATACGAAT ATATGTGTATATATTCATACGAATATATGTGTATATATTCATACGAATAT ATGTGTATATATTCATACGAATATATGTGTATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SDK1_chr7_3296252_4274000	3630820	T T	TCCATTTT others(303): Show TCCATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0029 a0029	a0029c0063 a0029c0063	a0029c0063t0007 a0029c0063t0007	a0029c0063t0007g0106 a0029c0063t0007g0106	1	116	0.0086	310	c.459 others(327): Show c.459-8175_459-8174insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTTAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCCATTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158127371	T T	TGGGGGGG others(303): Show TGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCGCCCCGTCCG GGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGG GAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	366	0.0027	310	c.101 others(327): Show c.1015+736_1015+737insCCACCTCCCTCCCGGAAGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158127371	T T	TGGGGGGG others(303): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCGCCCCGTCCG GGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGG GAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	366	0.0027	310	c.101 others(327): Show c.1015+736_1015+737insCCACCTCCCTCCCGGAAGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158127371	T T	TGGGGGGG others(303): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCGCCCCGTCCG GGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGG GAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	366	0.0027	310	c.101 others(327): Show c.1015+736_1015+737insCCACCTCCCTCCCGGAAGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158127371	T T	TGGGGGGG others(303): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCGCCCCGTCCGG GAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGG AGGGAGGTGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02738.hp1 others(1): Show HG01496.hp2 HG02145.hp1 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182	4	366	0.0109	310	c.101 others(327): Show c.1015+736_1015+737insCCCACCTCCCTCCCGGAAGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(303): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG03831.hp1 HG04184.hp1 others(6): Show HG02523.hp2 HG03831.hp1 HG04184.hp1 NA18947.hp2 NA18964.hp1 NA18975.hp2 NA18984.hp2 NA19072.hp1 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0010 a0002c0003t0001g0059 others(4): Show a0002c0003t0001g0002 a0002c0003t0001g0010 a0002c0003t0001g0059 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0069 a0002c0003t0001g0075	9	384	0.0234	310	c.-83 others(319): Show c.-839_-838insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTGTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(303): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA ATAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	384	0.0026	310	c.-83 others(319): Show c.-839_-838insTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTGTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(303): Show TAGAAAAATTAGACCGGGCGCGGTGTCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG02818.hp2 others(1): Show HG01243.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0042 a0001c0001t0014g0018 a0001c0001t0014g0040 others(1): Show a0001c0001t0004g0042 a0001c0001t0014g0018 a0001c0001t0014g0040 a0001c0001t0014g0041	4	400	0.0100	310	c.137 others(327): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCAC TGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCATTCCCGAG TAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTTTTTTGTAT TTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTC CTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAG GCGTGAGACACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SH3BGRL2_chr6_79626329_79708655	79689230	T T	TAAAAATT others(303): Show TAAAAATTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTGAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0175 a0001c0001t0014g0175	1	348	0.0029	310	c.232 others(327): Show c.232-7245_232-7244insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTGAAAAAAAAAAAAAAAAAAAAAAAATTTCT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(303): Show GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGA GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT GGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGG TAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGT GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 HG03195.hp2 HG03453.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0030 a0001c0003 a0008c0030	a0001c0003t0081 a0008c0030t0071 a0001c0003t0081 a0008c0030t0071	a0001c0003t0081g0179 a0008c0030t0071g0072 a0001c0003t0081g0179 a0008c0030t0071g0072	2	316	0.0063	310	c.257 others(329): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCA TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCA CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC CCTGACCCCTCCCCATCATCTTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar

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