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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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(831): Show ACTGGGTGGGGGGCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGG GGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGG GCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAG GGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG GAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGG TGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCG GGGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	373	0.0027	838	c.115 others(855): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCC AGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCC CTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCC CCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCC CCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168614052	G G	GCACAGGG others(831): Show GCACAGGGCCTCTTCATACCTACAGCCAGCACATGGAGCCTCTTCACACC TACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACGGCCAGCAC ATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATA CCTACAGCCAGCACAGGACCTCTTCACACCTACAGCCAGCACAGGGGCCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCAC AGGGGGCCTCTTCACACCTACAGCCATCACAGGGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCA CACCTACAGCCAGCACAGGGGGCCTCTTCATACCTACAGCCAGCACAGGG CCTCTTCATACTTACAGCTTGCACAGGGCCTCTTTACATCTACAGCCAGC ACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCACACCTACA GCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCA CACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGG CCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCA TCACAGGGCCTCTTCACACCTAAAGCCAGCACAGGGGGCCTCTTCACATC TACAGCCAGCACAGGGTCTCTTCATACTTACAGCCGGCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	180	0.0056	838	c.907 others(855): Show c.907+5815_907+5816insCAGGGCCTCTTCATACCTACAGCCAGCA CATGGAGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCT ACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCT TCACACCTACGGCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCACA GGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCC AGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGACCTCTTCACACCT ACAGCCAGCACAGGGGCCCTCTTCACACCTACAGCCAGCACAGGGCCTCT TCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCATCACA GGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCC AGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCAT ACCTACAGCCAGCACAGGGCCTCTTCATACTTACAGCTTGCACAGGGCCT CTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACA GGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACCTACAG CCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCAC ACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGC CTCTTCACACCTACAGCCATCACAGGGCCTCTTCACACCTAAAGCCAGCA CAGGGGGCCTCTTCACATCTACAGCCAGCACAGGGTCTCTTCATACTTAC AGCCGGCACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(831): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGAT GGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTG GTGGTGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGAT GGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGG TGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTC CCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGT ATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAG TACCCCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATT GTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATG GCTATGGTGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(117): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0003t0001 a0002c0003t0003 a0002c0003t0011	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(117): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0081 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0194 a0001c0001t0002g0212 a0001c0001t0003g0125 a0001c0001t0003g0264 a0001c0001t0006g0142 a0001c0001t0010g0144 a0001c0001t0013g0235 a0001c0001t0014g0009 a0001c0001t0015g0120 a0002c0003t0001g0040 a0002c0003t0003g0075 a0002c0003t0011g0076	120	270	0.4444	838	c.-78 others(857): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGA GATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCA GTGGTGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGA TGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTG GGGATGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGT GATGGTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGA GAGTGGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATG GCTATGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGAT GGGGTAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGA GATGGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(831): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCAGTGATGGTGTCATGGTGGGGATGGTGATGGTGGTGGTGAT GGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTG GTGGTGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGAT GGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGG TGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTC CCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGT ATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAG TACCCCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATT GTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATG GCTATGGTGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	270	0.0037	838	c.-78 others(857): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGG GATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCA GTGGTGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGA TGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTG GGGATGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGT GATGGTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGA GAGTGGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATG GCTATGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGAT GGGGTAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGA GATGGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMEM255B_chr13_113754226_113821995	113816252	G G	GGGGAGAC others(831): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGTATGGGGAGAGGTGCAG TCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGCGTGTTCGCAG CGTGTTCTGTATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCT TTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGTATGGGGAGAGGTGC AGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGC AGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTT CTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGT GCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTC GCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGG TTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAG GTGCAGTCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGT TCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACG GGTTCTTTTCGGGGAGGCAAGCATGTTCTAAGCGTGTTCTGGATGGGGAG GGAGGTGCAGTCACTGGTCAGGGACATGGTTTCTTTTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0119 a0001c0002t0051g0119	1	260	0.0039	838	c.43 others(849): Show c.4354_*4355insACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAG AGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGT GTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACA CGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGTATGGGG AGAGGTGCAGTCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGC GTGTTCGCAGCGTGTTCTGTATGGGGAGAGGTGCAGTCACTGGTCAGGGA CACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGTATGG GGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAA GCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGG GACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGAT GGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGAC AAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCA GGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGG ATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTTTTCGGGGAG ACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGT CAGGGACACGGGTTCTTTTCGGGGAGGCAAGCATGTTCTAAGCGTGTTCT GGATGGGGAGGGAGGTGCAGTCACTGGTCAGGGACATGGTTTCTTTTCAG GGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4355	INFO_REALIGN_3_PRIME	chr13	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(831): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCGGAACCCAGAACAGTCTTCATTCGCGTATCAGGAAA CAAGATTTAGGGACAGCTGATGTTTCTCTTTATTCTTTTTCTGAGACCCA CGTGCCACTTTCCTGCAGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGG GGCTGCAGACCACAGAACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATC AAAGCCATTCCCAGTCAAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCAC CGAGGAGGTGCTGCTGAGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGAT GGCCTGGAGTGAAATGCCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCT GGGGGGGATTGCCCTGGGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGG GGAGGGGGATTCCCCGGGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0319 a0001c0001t0004g0319	1	409	0.0024	838	c.-5+ others(853): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCGACTG TTCTGGGTTCCATGTTTCTCCTTTAACTGTGCAAGCACAACTGAATTGCG AATTGTAATTTAATGTCTAAATGTCCAAATGCATGACTTCTTTTGGGGAA GAAATATGAAAAATCTTTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGT CTTTGCATCATACCAACTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCG GGCTTCTCCCCTCCGTCGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCA GTCAGGCTGACGTCATTTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTC TTAACCTTTCTTTAAGCCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCG TTCAGCGCGGCTCAGGGAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGAC TCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(831): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATATACTATATCATCATATGATA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0123 a0001c0001t0007g0123	1	174	0.0058	838	c.41- others(855): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATAT ACTATATCATCATATGATATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028600	C C	CCCCCATC others(831): Show CCCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCC ATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCAC ACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCGTCCTGA AGACCCACACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACC CACACATACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACA TACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACATACCCT CGTAAAGACCCCCATCACACCGTCCTGAAGACCCACACATACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATA CCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCCACATACCCTCGTGAAGATCCCCATCACACCATCCTAAAG ACCCCCACACACACTCGTAGAGACCCCCATCACACCATCCTAAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCC ATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0204 a0005c0005t0002g0204	1	224	0.0045	838	c.225 others(857): Show c.2251+1829_2251+1830insTCTTTACGAGGGTGTGTGGGGTCTTC AGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGTCTTTAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTTAGGATGGTGTGATGGGGGTCTCTACGAG TGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGATCTTCACGAGGGTAT GTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG GTCTTTAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGAT GGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGG TATGTGTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGT GTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGTGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGAC GGTGTGATGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UNC13B_chr9_35157009_35410335	35372601	C C	CCCCTGTG others(831): Show CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAG CAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACAT GGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACT TAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCT AGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATAC ATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAG ACTTAACTCTCTGGGCTTGGCAGATACATGGGCCCTGTGCAAGAGTGTGG CTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGAT ACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCA GACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTG TGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCA GATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTC TCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAG TGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGG CAGATACATGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGC TCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0173 a0004c0005t0001g0173	1	224	0.0045	838	c.954 others(857): Show c.9540+2285_9541-1609dupCTGTGCAAGAGTGTGGCTAGCAAGGC AGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGCCC CTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTC TCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAG GCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGG CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGCCCTGTGCAAGAGTGTGGCTAGCA AGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGG GGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTA ACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTA GCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACA TGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATA CATGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAG ACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTG GCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGA TACATGGGGCCC	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UROS_chr10_125783586_125828258	125824766	G G	GCCTCTGC others(831): Show GCCTCTGCTTAGATTGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAAT CAAGAGTCTTCACAATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATC AGAATAAGGAAGAGAGAGTGATAGGAAATAAAATCAGAGAGGTAATCATG AGTCATGATGAGCATGGAGGGGAGCATGGAGAGAAGCATGGATGCAGGAT TAGAGGTGACACCATGGTGTGGGTATGTGATCAATCTTCCTTCCCTTACA AATTTTACTTTGGCTCTATGCCTTGAATGCCATCTCACCATTTTTCACTT AGAACTTTGACTGGCTCTTTTATTACTTTTGGGTTATAGAAATCAATGCT GCTTGTGTTAACATGGGAAATCTATCACACCACCACAGTCTTAATTCTAA ATCACCTGGGAATGAGGGACCCTCTGCTTAGATTGCTGCATTGGCTTTCT AGTTCATTTACAAGAAAATCAAGAGTCTTCACAATTGAGGGACGGAAAGG CAGCCTAGATGGCTGGATCAGAATAAGGAAGAGAGAGTGATAGGAAATAA AATCAGAGAGGTAATCATGAGTCATGATGAGCATGGAGGGGAGCATGGAG AGAAGCATGGATGCAGGATTAGAGGTGACACCATGGTGTGGGTATGTGAT CAATCTTCCTTCCCTTACAAATTTTACTTTGGCTCTATGCCTTGAATGCC ATCTCACCATTTTTCACTTAGAACTTTGACTGGCTCTTTTATTACTTTTG GGTTATAGAAATCAATGCTGCTTGTGTTAACATGGGAAATCTATCACACC ACCACAGTCTTAATTCTAAATCACCTGGGAATGAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02630.hp1 others(4): Show HG02145.hp1 HG02615.hp1 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0061 a0001c0001t0002g0063 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065	7	408	0.0172	838	c.-17 others(849): Show c.-1765_-1764insGTCCCTCATTCCCAGGTGATTTAGAATTAAGACT GTGGTGGTGTGATAGATTTCCCATGTTAACACAAGCAGCATTGATTTCTA TAACCCAAAAGTAATAAAAGAGCCAGTCAAAGTTCTAAGTGAAAAATGGT GAGATGGCATTCAAGGCATAGAGCCAAAGTAAAATTTGTAAGGGAAGGAA GATTGATCACATACCCACACCATGGTGTCACCTCTAATCCTGCATCCATG CTTCTCTCCATGCTCCCCTCCATGCTCATCATGACTCATGATTACCTCTC TGATTTTATTTCCTATCACTCTCTCTTCCTTATTCTGATCCAGCCATCTA GGCTGCCTTTCCGTCCCTCAATTGTGAAGACTCTTGATTTTCTTGTAAAT GAACTAGAAAGCCAATGCAGCAATCTAAGCAGAGGGTCCCTCATTCCCAG GTGATTTAGAATTAAGACTGTGGTGGTGTGATAGATTTCCCATGTTAACA CAAGCAGCATTGATTTCTATAACCCAAAAGTAATAAAAGAGCCAGTCAAA GTTCTAAGTGAAAAATGGTGAGATGGCATTCAAGGCATAGAGCCAAAGTA AAATTTGTAAGGGAAGGAAGATTGATCACATACCCACACCATGGTGTCAC CTCTAATCCTGCATCCATGCTTCTCTCCATGCTCCCCTCCATGCTCATCA TGACTCATGATTACCTCTCTGATTTTATTTCCTATCACTCTCTCTTCCTT ATTCTGATCCAGCCATCTAGGCTGCCTTTCCGTCCCTCAATTGTGAAGAC TCTTGATTTTCTTGTAAATGAACTAGAAAGCCAATGCAGCAATCTAAGCA GAGG	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding		1509		chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(832): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCGTGAGCACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCATCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0025 a0002c0005t0025	a0002c0005t0025g0253 a0002c0005t0025g0253	1	368	0.0027	839	c.401 others(856): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGA CCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCATCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
BAHCC1_chr17_81390457_81471331	81426451	T T	TAGTGGTG others(832): Show TAGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGT GGGTGATGTGGTTGGTGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGATAGTGG TGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGA TAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGG TGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGT GGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGG TGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGG TTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGTGATGTGG TTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGT GATAGTGGTGGGTGATGTGCTTGGGGGTGATAGTGGTGGGTGATGTGGTT GGTGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGA TAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGG TGGTAATGTGGTTGGTGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTTA TGTGGTTGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTG GGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0001 a0001c0051t0001	a0001c0051t0001g0288 a0001c0051t0001g0288	1	332	0.0030	839	c.179 others(854): Show c.179-349_179-348insAGTGGTGGGTGATGTGGTTGGTGGTGATGT GGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGG GGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGATGATG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGG GTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAG TGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGG TGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTG ATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTG GGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTAATGTGGTTGGTGGTGA TGTGGTTGGTGTGATGTGGTTGGTGGTTATGTGGTTGGTGATGTGGTTGG TGGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGCTTGGGGGTGAT AGTGGTGGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGGTGG GTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAG TGGTGGGTGATGTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGT GTGATGTGGTTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATGTG GTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTG GTGATAGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27			chr17	TogoVar
BOK_chr2_241553745_241579131	241570448	G G	GTCTGAGC others(832): Show GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGA GAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTG AGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAC GTACGGGAGGGAATGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGG GAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGG TGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG ACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGT GGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATG GGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAGTGGCGG GTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGT GGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGG CGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGA GGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0061 a0001c0002t0009g0061	1	434	0.0023	839	c.513 others(854): Show c.513+172_513+173insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTA CAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGG ATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGACGTACGGGAGGGAATGGCGGGTGGGTGAGTGTCTGAGCGCCTGG GGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGT GGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCT GGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTG GTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGA GTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGT GCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGTGTCTGAG CGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAG GGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCT GAGCGCCTG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(832): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGAAGGGG GATCCTCACGGGGAAGGGCATCCTCATGGGGAGGGGGATCCTCAGGGGGA AGGGGGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCT CCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGG GATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGA GGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGG AGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCACG GGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGA TCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGG ATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAG GGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGG GGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATC CTCACGGGGAAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGG GATCCTCATGGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGG GAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0043 a0001c0015t0006g0043	1	58	0.0172	839	c.234 others(860): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAG GGGGATCCTCAGGGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCATGG GGAGGGGGATCCTCAGGGGGAAGGGGGATCCTCATGAGGAGGGGGGATCC TCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGA AGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAA GGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGG GGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCT CACGGGGAGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGG TGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGG AGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGG GAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCA GGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCC TCCTCAGGGGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGA GGGGGATCCTCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCCTCAGA GGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATC CTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC6_chr10_59783747_59911556	59882004	G G	GGGGAGAA others(832): Show GGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAG CCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGA AGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18945.hp2 HG03710.hp1 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0001 a0001c0003t0003 a0002c0004t0001	a0001c0003t0003g0164 a0002c0004t0001g0150 a0001c0003t0003g0164 a0002c0004t0001g0150	2	288	0.0069	839	c.303 others(858): Show c.303+24117_303+24118insGCCGGCTTTCCTTTCCTTCTCCCCCT GGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC CGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTT CTCCCCCTGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTC CTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882073	G G	GGAGAAGG others(832): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGA AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGG AAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAG CCGGGGAGAAGGAAAGGAAAGCCGGGGAGAGAAGGAAAGGAAAGCCGGCG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG GGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0163 a0001c0003t0003g0163	1	288	0.0035	839	c.303 others(858): Show c.303+24048_303+24049insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCTCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCT TTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882473	C C	CGCGGGGA others(832): Show CGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0166 a0001c0003t0003g0167	2	288	0.0069	839	c.303 others(858): Show c.303+23648_303+23649insTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCC CCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCGC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(832): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTT GTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0129 a0001c0001t0011g0129	1	336	0.0030	839	c.248 others(856): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAA CTTCTTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGA ACATTCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGA TGAAGAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACAC CACAAAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATG ACAGATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAA AAGATTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGT GAAATACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTG AGAATGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCT AGAGTAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGA ACCTCCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTC AAATAATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAAT ATTCATGGGCAATACATCCATACTATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCT GGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CPNE4_chr3_131528569_132040014	131978292	T T	TTTATATA others(832): Show TTTATATATATTTATATATATATTTATATATATTTATATTTATATATATA TTTATATATATTTATATTTATATATATATTTTTATATATATTTATATATA TTTATATTTATATATATATTTTTATATATATTTATATATATTTATATTTA TATATATATTTTTATATATATTTATATATATTTATATTTATATTTTTATA TATATTTATATATATTTATATTTATATATATTTATATATATATTTATATA TATATTTATATATATATATTTATATATATATTTATATATATATATTTATA TATATATTTATATATATATATTTATATATATATTTATATATTTATATATA TATATTTTTATATATTTTTATATATATATTTATATATATATATTTATATA TATATATTTATATATTTATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATATTTATATATATTTATATATATATTTATATATATATA TTTATATATATATATTTATATATATATATTTATATATATATTTATATATT TATATATATTTATATATTTATATATATTTATATATATATTTATATATTTA TATATATATTTATATATTTATATATATTTATATATATATTTATATATTTA TATATATTTATATATATTTATATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0068 a0001c0002t0009g0068	1	94	0.0106	839	c.-2+ others(856): Show c.-2+56274_-2+56275insTAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATAAATATATAAATATATATATAAATATATATATATAAATA TATATATATAAATATATATATATAAATATATATATAAATATATATAAATA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATAAATATATAAATA TATAAATATATATATATAAATATATATATATAAATATATATATAAAAATA TATAAAAATATATATATATAAATATATAAATATATATATAAATATATATA TATAAATATATATATAAATATATATATATAAATATATATATAAATATATA TATATAAATATATATATAAATATATATATAAATATATATAAATATAAATA TATATAAATATATATAAAAATATAAATATAAATATATATAAATATATATA AAAATATATATATAAATATAAATATATATAAATATATATAAAAATATATA TATAAATATAAATATATATAAATATATATAAAAATATATATATAAATATA AATATATATAAATATATATATAAATATAAATATATATAAATATATATATA AATATATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89588000	C C	CCCCCCGT others(832): Show CCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCAC CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGG CCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTG TTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGC CCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0274 a0003c0006t0003g0274	1	348	0.0029	839	c.928 others(854): Show c.928-666_928-665insCACCCGCGTGTCACCCACAGAAACACGGCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGAAACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAG AAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCAC AGAAACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCC GTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACA GAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88713164	A A	ACCCGAGA others(832): Show ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG01168.hp1 others(6): Show HG00738.hp2 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01346.hp2 HG02895.hp1 HG03130.hp1 HG03225.hp2 HG03669.hp2	a0003 a0003	a0003c0004 a0003c0038 a0003c0004 a0003c0038	a0003c0004t0001 a0003c0004t0004 a0003c0038t0004 a0003c0004t0001 a0003c0004t0004 a0003c0038t0004	a0003c0004t0001g0009 a0003c0004t0001g0013 a0003c0004t0001g0051 others(4): Show a0003c0004t0001g0009 a0003c0004t0001g0013 a0003c0004t0001g0051 a0003c0004t0004g0013 a0003c0004t0004g0188 a0003c0004t0004g0195 a0003c0038t0004g0009	9	418	0.0215	839	c.738 others(854): Show c.738-146_738-145insCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUX2_chr12_111029165_111355554	111325995	T T	TTGTGTTG others(832): Show TTGTGTTGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGGGGTGGGGGAGG GGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTA TAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGA GGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTT TATAGTGTTGTGGTGGGGGAGTGGTGGGTTTTGTTTATAGTGTTGTGTTG GGGGAGGGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTG TTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGG AGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGT TTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGA GGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAG GGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTT ATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGG AGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTT TATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	100	0.0100	839	c.292 others(858): Show c.2926+3417_2926+3418insTGTTGGGGAGGGGTGGGTTTTGTTTA TAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGG GGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTGTTT ATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGG GGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTTGT TTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGT GGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGTGGTGGGT TTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTG ATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTT TTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGG TGGGGGAGGGGTGGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTT TGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGG GGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTT GTTTATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTG GGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTT TTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGT GGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGT TTTGTTTATAGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCCACACC others(832): Show CCCACACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACACACCCCC CACACCACACATCCCTCACACCCCCCAACACCCCCACACCCCCCCACACC ACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCACA CCCCCCACATCCCCACACCCCCATCCCCCACACTCCCCACACCCCCCACA CCCCCCACATCCCCACACCCCCCACACCCCCCACACCCCCATACCCCCCA CACCCCCAACACCCCCCACATCCCCACACACCACAAATCCTCCACACCCC CACACCACACATCCCCCACACCCCCCACACCCCCCACACCCCCATCTCCC CACACCCCCCACACCCCCCACACCCCCATCTCCCCACACCCCCCACACCC CCATACCCCCCACACACCCCACACCCCCCACATCCCCACACACCACAAAT CCTCCACACCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACA CCCCCATCTCCCCACACCCCCCACACCCCCCACACCCCCATCTCCCCACA CCCCCCACACCCCCATACCCCCCACACACCCCACACCCCCCACATCCCCA CACACCACAAATCCTCCACACCCCCACACCACACATCCCCCACACCCCCC ACACCCCCCACACCCCCATCTCCCCACACCCCCCACACCCCCCACACCCC CATCTCCCCACACCCCCCACACCCCCATACCCCCCACACACCCCACACCC CCCACATCCCCACACACCACAAATCCTCCACACCCCCACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0073 a0004c0005t0001g0073	1	116	0.0086	839	c.207 others(858): Show c.2073+1469_2073+1470insCACACATCCCTCACACCCCCCAACAC CCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAC ATCCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACCC CCACACCCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACC CCCCACATCTCCCCACACCCCCCACATCCCCACACCCCCATCCCCCACAC TCCCCACACCCCCCACACCCCCCACATCCCCACACCCCCCACACCCCCCA CACCCCCATACCCCCCACACCCCCAACACCCCCCACATCCCCACACACCA CAAATCCTCCACACCCCCACACCACACATCCCCCACACCCCCCACACCCC CCACACCCCCATCTCCCCACACCCCCCACACCCCCCACACCCCCATCTCC CCACACCCCCCACACCCCCATACCCCCCACACACCCCACACCCCCCACAT CCCCACACACCACAAATCCTCCACACCCCCACACCACACATCCCCCACAC CCCCCACACCCCCCACACCCCCATCTCCCCACACCCCCCACACCCCCCAC ACCCCCATCTCCCCACACCCCCCACACCCCCATACCCCCCACACACCCCA CACCCCCCACATCCCCACACACCACAAATCCTCCACACCCCCACACCACA CATCCCCCACACCCCCCACACCCCCCACACCCCCATCTCCCCACACCCCC CACACCCCCCACACCCCCATCTCCCCACACCCCCCACACCCCCATACCCC CCACACACCCCACACCCCCCACATCCCCACACACCACAAATCCTCCACAC CCCCACACCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(832): Show GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAATTGTG GTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTG TCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTG TGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	170	0.0059	839	c.86- others(852): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAATTGTGGTG TCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGGG GAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCG TGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGT TGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(832): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAAT ATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAAT ATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATA TATAAAAATATATAAATATATATAAAAATATATAAATATATATTATATAT AAATATATAATATATAAATATATATAAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATATA CAATATATAAATATATATAAATATATACAATATATAAATATATATAAATA TATACAATATATAAATATATATAAATATATACAATATATAAATATATATA AATATATACAATATATAAATATATATAAATATATAAATATATATAAATAT ATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	344	0.0029	839	c.617 others(856): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATATTTTTATATATATTTATATGTGTATA TATTTTTTATATATTTTTATATATTTATATATTTTTTATATATATTTTTA TATTTTTAATATATTTTATATATTATATATATTTTATATTTATATATATT ATGTATTTATATATTTATATATTTATATATTTATATATTTATGTATATAT ATTTATATGTACTTATATATATTTATATATTTATATATTTATATATTTAT ATATTTATGTATTTATATATTTTTATATATTTATATATTTATATATTTAT ATATATTTATATATTTATATATTTATATATATTTATATATATTTATATAT TTATATATTTTTATATATTTATATATTTTTATATATTTATATTTATATAT TTATATATTTATATATTTATATATTATATATTTATATTTATATATGTATA TATTTTTATATATTTTTATTTATATATTTATATATTTATATATATTTATA TATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(832): Show TATATATGAATATATAAATATATATAAATATATATGAATATATAAATATA TATAAATATATAAATATATAAATAAAAATATATAAAAATATATACATATA TAAATATAAATATATAATATATAAATATATAAATATATAAATATATAAAT ATAAATATATAAAAATATATAAATATATAAAAATATATAAATATATAAAT ATATATAAATATATATAAATATATAAATATATAAATATATATAAATATAT AAATATATAAATATATAAAAATATATAAATACATAAATATATAAATATAT AAATATATAAATATATAAATATATATAAGTACATATAAATATATATACAT AAATATATAAATATATAAATATATAAATACATAATATATATAAATATAAA ATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAA ATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATATA TATAAAAATATATAAATATATATAAAAATATATAAATATATATTATATAT AAATATATAATATATAAATATATATAAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATATA CAATATATAAATATATATAAATATATACAATATATAAATATATATAAATA TATACAATATATAAATATATATAAATATATACAATATATAAATATATATA AATATATATAATATATAAATATATATAAATATATAAATATATATAAATAT ATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	344	0.0029	839	c.617 others(856): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTATAT ATTTATATATTTATATATTTATATATTTATGTATTTATATATTTTTATAT ATTTATATATTTATATATTTATATATATTTATATATTTATATATTTATAT ATATTTATATATATTTATATATTTATATATTTTTATATATTTATATATTT TTATATATTTATATTTATATATTTATATATTTATATATTTATATATTATA TATTTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATT TATATATTTATATATATTTATATATTCATATATATTTATATATATTTATA TATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(832): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCC TCCCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTC TCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCT CTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCC CCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCT CCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCC TTTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCT CCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTT CCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCC CTTTTTCTCCCCTCCCCTCCCTGCTTCTTCTCCTTTCCTCCCTTCCCCTC CCCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCC TCACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18952.hp1 NA18953.hp1 others(7): Show NA18941.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp1 NA18990.hp1 NA18991.hp1 NA19001.hp2 NA19056.hp1 NA19077.hp2 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0042 a0002c0003t0045 a0002c0003t0003 a0002c0003t0042 a0002c0003t0045	a0002c0003t0003g0015 a0002c0003t0003g0062 a0002c0003t0003g0064 others(7): Show a0002c0003t0003g0015 a0002c0003t0003g0062 a0002c0003t0003g0064 a0002c0003t0003g0065 a0002c0003t0003g0066 a0002c0003t0003g0068 a0002c0003t0003g0069 a0002c0003t0003g0070 a0002c0003t0042g0063 a0002c0003t0045g0061	10	138	0.0725	839	c.123 others(860): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCC CCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCC TCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCT TCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCT CCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTT CCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTT CCCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCC CTCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCC CTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCTTCTT CTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCC TCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCC CTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(832): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCC TCCCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTC TCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCT CTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCC CCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCT CCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCC TTTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCT CCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTT CCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCTC CTTTTTCTCCCCTCCCCTCCCTGCTTCTTCTCCTTTCCTCCCTTCCCCTC CCCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCC TCACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0036 a0002c0003t0003g0036	1	138	0.0073	839	c.123 others(860): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCC CCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCC TCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCT TCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCT CCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTT CCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTT CCCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCC CTCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCT CCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCC CTCTGCCTCTCCTCCCCTCTCCTTTTTCTCCCCTCCCCTCCCTGCTTCTT CTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCC TCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCC CTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
GAPVD1_chr9_125256826_125372207	125265636	C C	CTCCTGAC others(832): Show CTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTAT AGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTATGT TGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTAGA AAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACTGA TTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTG AGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAA AAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCA GCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAG ACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAAT TAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTG AGGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAA AAAAAAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCTC TGTCGCTCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTC TGCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGG GACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTA GAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	340	0.0029	839	c.-19 others(858): Show c.-198-3279_-198-3278insGCCTTGGCCTCCCAAAGTGCGGGGTT ATAGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTAT GTTGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTA GAAAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACT GATTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGAT TGAGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATA AAAAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCC CAGCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCG AGACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAA ATTAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCT TGAGGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCG AGATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTC AAAAAAAAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGC TCTGTCGCTCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGC TCTGCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCT GGGACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATATCCTGACC TCGTGATCTGCCC	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125265636	C C	CTCCTGAC others(832): Show CTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTAT AGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTATGT TGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTAGA AAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACTGA TTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTG AGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAA AAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCA GCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAG ACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAAT TAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTG AGGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAA AAAAAATTTTTTTTTTCTTTTCTTTTTTTTTTTGAGGCGGAGTCTGGCTC TGTCGCCCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTC TGCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGG GACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTA GAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	340	0.0029	839	c.-19 others(858): Show c.-198-3279_-198-3278insGCCTTGGCCTCCCAAAGTGCGGGGTT ATAGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTAT GTTGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTA GAAAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACT GATTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGAT TGAGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATA AAAAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCC CAGCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCG AGACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAA ATTAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCT TGAGGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCG AGATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTC AAAAAAAATTTTTTTTTTCTTTTCTTTTTTTTTTTGAGGCGGAGTCTGGC TCTGTCGCCCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGC TCTGCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCT GGGACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATATCCTGACC TCGTGATCTGCCC	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125265636	C C	CTCCTGAC others(832): Show CTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTAT AGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTATGT TGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTAGA AAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACTGA TTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTG AGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAA AAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCA GCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAG ACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAAT TAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTG AGGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAA AAAAAATTTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCTC TGTCGCCCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTC TGCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGG GACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTA GAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	340	0.0029	839	c.-19 others(858): Show c.-198-3279_-198-3278insGCCTTGGCCTCCCAAAGTGCGGGGTT ATAGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTAT GTTGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTA GAAAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACT GATTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGAT TGAGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATA AAAAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCC CAGCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCG AGACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAA ATTAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCT TGAGGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCG AGATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTC AAAAAAAATTTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGC TCTGTCGCCCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGC TCTGCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCT GGGACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATATCCTGACC TCGTGATCTGCCC	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GET4_chr7_871554_901436	889922	A A	AGAGCGGG others(832): Show AGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0259 a0001c0004t0004g0259	1	384	0.0026	839	c.467 others(854): Show c.467-996_467-995insTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGC CTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(832): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	323	0.0031	839	c.-36 others(850): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGA ACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAA CATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(832): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACACGGAACATAT ATATGTGGAACCAATACGTATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0202 a0002c0002t0014g0202	1	323	0.0031	839	c.-36 others(850): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACACGGAACATATATATGTGGAACCAATACGTATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGA ACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAA CATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(832): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0238 a0002c0002t0002g0239	2	323	0.0062	839	c.-36 others(850): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGA ACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAA CATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(832): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0033	1	323	0.0031	839	c.-36 others(850): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATATGCAA CATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(832): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	323	0.0031	839	c.-36 others(850): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATC TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAA CATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(832): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01928.hp2 HG02027.hp1 others(1): Show HG00558.hp2 HG01928.hp2 HG02027.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0033 a0001c0001t0001 a0002c0002t0002 a0002c0002t0033	a0001c0001t0001g0236 a0002c0002t0002g0029 a0002c0002t0002g0199 others(1): Show a0001c0001t0001g0236 a0002c0002t0002g0029 a0002c0002t0002g0199 a0002c0002t0033g0188	4	323	0.0124	839	c.-36 others(850): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGA ACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAA CATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(832): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	323	0.0031	839	c.-36 others(850): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATATGCAA CATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(832): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	323	0.0031	839	c.-36 others(850): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAA CATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(832): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCCTCCTCCTCCCCCTCCCCC ACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCC CCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCC TCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCCTCCTCCCCCTCCTCCCCC CCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCC CTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTC CTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	252	0.0040	839	c.10- others(856): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCC CTCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCT CCTGCTCTCCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCCTCCT CCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCC CCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTC CTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCC TCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCT CCCCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCC CCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCT CCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(832): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC ACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19089.hp1 HG02148.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0291 a0001c0001t0001g0029 a0001c0001t0001g0291	2	312	0.0064	839	c.-41 others(854): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCC CCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAG CCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACA GCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(832): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC ACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	312	0.0032	839	c.-41 others(854): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCC CCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAG CCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACA GCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(832): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCA GAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAGTCTGCAGAGA TGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA19074.hp1 NA18981.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0241 a0001c0001t0001g0196 a0001c0001t0001g0241	2	375	0.0053	839	c.-20 others(850): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGA TGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAGTCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(832): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCAATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGG TAATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTG ATGGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGC AGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGG TAGAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTG AAAGTGATGGTGGTGATGGCTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp2 HG03453.hp1 others(1): Show HG02647.hp1 HG03139.hp2 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215	4	274	0.0146	839	c.480 others(858): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAGCCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACC ACCATCACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTT CACTACCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCT CCACCACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACT ACCACCATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTAC CACCATCATTTCCATCATTGCCACCACCTCCTGTCACCATCACCCCCACC ACCACCATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCAC CACCACCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCC CCACCACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATA ACCTCTACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCAT CCCCACCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACC ACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(832): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGG TAATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTG ATGGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGC AGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGG TAGAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTG AAAGTGATGGTGGTGATGGCTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	274	0.0037	839	c.480 others(858): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAGCCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACC ACCATCACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTT CACTACCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCT CCACCACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACT ACCACCATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTAC CACCATCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACC ACCACCATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCAC CACCACCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCC CCACCACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATA ACCTCTACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCAT CCCCACCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACC ACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(832): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGG TAATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTG ATGGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGC AGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGG TAGAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTG AAAGTGATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp1 HG03139.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0001g0222 a0001c0001t0002g0220 a0001c0001t0002g0221	3	274	0.0110	839	c.480 others(858): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACC ACCATCACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTT CACTACCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCT CCACCACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACT ACCACCATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTAC CACCATCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACC ACCACCATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCAC CACCACCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCC CCACCACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATA ACCTCTACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCAT CCCCACCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACC ACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(832): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAG GAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAG GGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGG GAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGG GAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGA GGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAG AGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGA AGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGA AGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAG AGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	280	0.0036	839	c.641 others(854): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCT CCGCCTCCTCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTC CCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCAC TCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(832): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAG GAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAG GGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGG GGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGG GAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGA GGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAG AGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGA AGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGA AGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAG AGAAGGGAGAGGAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp1 HG02004.hp1 others(2): Show HG01175.hp2 HG01981.hp1 HG02004.hp1 HG02300.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 others(2): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0138 a0001c0001t0001g0209	5	280	0.0179	839	c.641 others(854): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTC CCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCAC TCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(832): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGG GAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGA AGGGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGA GGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGA GGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGG GAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGG GGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGG GAGTGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAG GGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0028 a0004c0004t0011g0028	1	272	0.0037	839	c.250 others(854): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCC CTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCTTCCCCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCC CCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTT CCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCC TTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar

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