Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	378	0.0027	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCGTCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01069.hp1 others(37): Show HG00323.hp1 HG00639.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01123.hp1 HG01243.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0027 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0005t0001g0038	40	378	0.1058	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACACCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	378	0.0027	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18950.hp1 NA18946.hp2 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	2	378	0.0053	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGCAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02886.hp1 others(2): Show HG02572.hp2 HG02630.hp1 HG02886.hp1 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	5	378	0.0132	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT GCAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(317): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0002c0003t0001 a0003c0006t0001 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0004g0021 a0001c0001t0005g0040 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0033 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0003g0020 a0001c0002t0006g0051 a0001c0002t0007g0052 a0001c0002t0008g0053 a0002c0003t0001g0011 a0003c0006t0001g0036 a0004c0004t0001g0032	320	378	0.8466	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTTGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	378	0.0027	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCAAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTACTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(408): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCC ATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTC CTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCT CCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGC CTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCC CTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA19007.hp2 HG02027.hp1 NA19007.hp2	a0004 a0004	a0004c0003 a0004c0013 a0004c0003 a0004c0013	a0004c0003t0005 a0004c0013t0001 a0004c0003t0005 a0004c0013t0001	a0004c0003t0005g0000 a0004c0013t0001g0000 a0004c0003t0005g0000 a0004c0013t0001g0000	2	406	0.0049	415	c.33 others(426): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTC CAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTA CCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCC CCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCC CGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCC CCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(408): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCC TCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAG CCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTATC CCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCC CACCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(7): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01261.hp2 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG02109.hp1 HG04199.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0002 a0002c0004t0001 a0002c0004t0016 others(1): Show a0001c0001t0002 a0002c0004t0001 a0002c0004t0016 a0002c0005t0001	a0001c0001t0002g0000 a0002c0004t0001g0000 a0002c0004t0016g0000 others(1): Show a0001c0001t0002g0000 a0002c0004t0001g0000 a0002c0004t0016g0000 a0002c0005t0001g0000	10	406	0.0246	415	c.33 others(426): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACC CCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTC CCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGC CCCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCT ACCCCTCCCCCCGCCCACCCCCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(408): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCTC CTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGC CTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCT CCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGC CTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCC CTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	415	c.33 others(426): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACC CACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCC CCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCC CGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCC CCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FTCD_chr21_46131779_46160579	46145756	C C	CTTCCCCC others(408): Show CTTCCCCCTCCCCGCCCTCCCCCCCAACAGCGCCCTCCCCCCAACAACTG CGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCC AACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCC TTCCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCC CTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCTTCCCCCTCC CCGCCCTCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTTCCCCCCTCC CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAAC AGCGCCCTCCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTC CCCCCCAACAGCGCCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	230	0.0044	415	c.109 others(430): Show c.1098+61_1098+62insCGGCGCTGTTGGGGGGGAGGGCGGGGAGGG GGAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGC GCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGGAAGGG CGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGG AGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGG GAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGG GAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCT GTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGG AGGGCGCTGTTGGGGGGGAGGGCGGGGAGGGGGAA		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
FTCD_chr21_46131779_46160579	46145758	T T	TCCCCCTC others(408): Show TCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGC CCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAAC AACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTC CCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTC CCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACA GCGCCTTCCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACA GCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCC CCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCC CCCCAACAGCGCCCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG02818.hp1 HG03453.hp2	a0002 a0002	a0002c0006 a0002c0018 a0002c0006 a0002c0018	a0002c0006t0002 a0002c0018t0002 a0002c0006t0002 a0002c0018t0002	a0002c0006t0002g0183 a0002c0018t0002g0129 a0002c0006t0002g0183 a0002c0018t0002g0129	2	230	0.0087	415	c.109 others(430): Show c.1098+59_1098+60insGAGGGCGCTGTTGGGGGGAGGGCGCTGTTG GGGGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGG GGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGG CGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGG CGGGGAGGGGGAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGG GGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGG GGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGC GCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGG GGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA20905.hp1 HG03486.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0002 a0001c0001t0017g0050 a0001c0001t0002g0002 a0001c0001t0017g0050	2	422	0.0047	415	c.31 others(426): Show c.3138_*3139insGGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCC AGGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCC ACACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGC ACGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	415	c.31 others(426): Show c.3138_*3139insGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCA GGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCA CACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCA CGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03669.hp2 HG02258.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	422	0.0047	415	c.31 others(426): Show c.3138_*3139insGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCA GGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCA CACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCA CGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGTCCC others(408): Show CCTGTCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCAT CTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCC TCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGGCC CCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACATCT TCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCC TGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCCA TATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTCT GTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0069 a0003c0069	a0003c0069t0001 a0003c0069t0001	a0003c0069t0001g0081 a0003c0069t0001g0081	1	396	0.0025	415	c.239 others(424): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(408): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCTCTCCTT CCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACC TCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCT TCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCT CCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCC CCCTTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCT TCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCC TTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG01952.hp1 others(2): Show HG01168.hp1 HG01175.hp2 HG01952.hp1 HG03239.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0119 a0001c0002t0003g0124 a0001c0002t0003g0125 others(2): Show a0001c0002t0003g0119 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0002t0003g0130	5	290	0.0172	415	c.972 others(430): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCC CTCCCCTCCTTGCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTA CCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCC CCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTC CCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCCTCCTTCCCCT TTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCC CTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC		GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
GRK5_chr10_119202571_119464745	119394232	G G	GTGTGTGG others(408): Show GTGTGTGGGTGTCTGTGTGGGTGTATCTGTGTGTGTGGGCACGTGTGTGT GTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGTGTGTGTGTGTGTGT GGGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGTGTGTAT CCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGGGTATCT GTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTATGGGTG TGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGTATGTGTGGGTGTGGG TGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGTGTGAGTA TCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTGTGTGGC TATGTGGATGTGTGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	202	0.0050	415	c.262 others(432): Show c.262-2445_262-2444insGGTGTATCTGTGTGTGTGGGCACGTGTG TGTGTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGTGTGTGTGTGTG TGTGGGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGTGTG TATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGGGTA TCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTATGG GTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGTATGTGTGGGTGT GGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGTGTGA GTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTGTGT GGCTATGTGGATGTGTGGATGTGTGGGTGTCTGTGTG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GSE1_chr16_85608322_85681200	85653242	T T	TCCCCCCC others(408): Show TCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCTCCTCCCCCCTCCTC CCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	290	0.0035	415	c.427 others(432): Show c.427-1034_427-1033insCCCCCCTCCTCCCCCCTCCTCCCCCCCC TCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCT CCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCCCCTCCCC CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCCCCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	321901	A A	AAAAAAAA others(408): Show AAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGC TCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAG CATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAG AAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGC TGAGGTGGGAGGATCGCTTGAGCCCAGGAGTTTGACACCAGCCTGGGCAA CATGGTAAGACCCCTTCTCTACCCTCCCCCCCAAAAAAAAAATTTTAGTG TGGCATGGTGGTGGGTGCCTGTGGTCCCAGCTACTCGGGACGCTGAGGTG GGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTA AGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0004 a0023c0035t0004	a0023c0035t0004g0147 a0023c0035t0004g0147	1	155	0.0065	415	c.-31 others(426): Show c.-3115_-3114insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGT AGCTGGGACCACAGGCACCCACCACCATGCCACACTAAAATTTTTTTTTT GGGGGGGAGGGTAGAGAAGGGGTCTTACCATGTTGCCCAGGCTGGTGTCA AACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCGAGCAGCTGGG ACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTT GTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGG GCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGC ACCCACCACCACGCCCGGCTTTTCTTTTTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					3106		chrX	TogoVar
HERC6_chr4_88373852_88448097	88379918	A A	AATATATA others(408): Show AATATATATATAACATATAAATATATATAATATATAAATATATATATAAC ATATAAATATATATAATATATAAATATATATATAACATATAAATATATAT AATATATAAATATATATATAATATATAAATATATATAATATATAAATATA TATAATATATAAATATATATAATATATAAATATATATAATATATAAATAT ATATATAATATATAAATATATATATAATATATAAATATATATATAATATA TAAATATATATATAATATATAAATATATATAATATATAAATATATATATA ATATATAAATATATATATAATATATAAATATATATAATATATAAATATAT ATATAATATATAAATATATATAATATATAAATATATATAATATATAAATA TATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0085 a0006c0006t0001g0085	1	174	0.0058	415	c.199 others(430): Show c.199+807_199+808insTAACATATAAATATATATAATATATAAATA TATATATAACATATAAATATATATAATATATAAATATATATATAACATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATAATA TATAAATATATATAATATATAAATATATATAATATATAAATATATATAAT ATATAAATATATATATAATATATAAATATATATATAATATATAAATATAT ATATAATATATAAATATATATATAATATATAAATATATATAATATATAAA TATATATATAATATATAAATATATATATAATATATAAATATATATAATAT ATAAATATATATATAATATATAAATATATATAATATATAAATATATATAA TATATAAATATATATAATATATAAATATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HIGD1C_chr12_50947544_50975607	50948918	G G	GGAGGGGG others(408): Show GGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGGAGGGGGATGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGGGG AGGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	380	0.0026	415	c.-38 others(426): Show c.-3861_-3860insGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGG AGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGATGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGG GGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3625		chr12	TogoVar
KDM4B_chr19_4964113_5158598	5131642	A A	AGGGGGGC others(408): Show AGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAG GGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGG GAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG01074.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0124 a0001c0001t0005g0043 a0001c0001t0003g0124 a0001c0001t0005g0043	2	270	0.0074	415	c.178 others(432): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228743	T T	TACCACCA others(408): Show TACCACCACTCACCCGAAGATCCCTCTCCACCCCCCAACCACCAAACACT CACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGAT CCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCC CCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCCAACCACCACACCC GAAAGATCCCTCCCCATCCCCCCCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCCCCACCACTCACTCCGAAAGATCCCTCTCCACCCCCCTACCAC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCACACCACCACTCACCCG AAAGATCCCTCTCCACCCCCCCAACCACGCAAACACTCACCCGAGAGATC CCTCTCCACCCCCGCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0237 a0001c0001t0026g0237	1	398	0.0025	415	c.64+ others(432): Show c.64+11896_64+11897insGGCGGGGGTGGAGAGGGATCTCTCGGGT GAGTGTTTGCGTGGTTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTGTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGTGGTAGGGGGG TGGAGAGGGATCTTTCGGAGTGAGTGGTGGGGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGTGGTGGT TGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGATGGGGAGG GATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTG AGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGG TTGGGGGGTGGAGAGGGATCTTCGGGTGAGTGGTGGT		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
LAMC1_chr1_183018420_183150592	183150199	T T	TGTCCTCC others(408): Show TGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACACA GCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAG CTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTC ACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTC CTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCAGAC AGCTCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 NA18948.hp2 NA19000.hp2 others(1): Show HG03834.hp2 NA18948.hp2 NA19000.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0060 a0001c0003t0003g0259 a0001c0003t0003g0300 others(1): Show a0001c0002t0002g0060 a0001c0003t0003g0259 a0001c0003t0003g0300 a0001c0003t0003g0301	4	308	0.0130	415	c.74 others(426): Show c.7409_*7410insGTCCTCCTCACACACCACACAGCCCACACCCCTC CTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGC TCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGC TCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCAC ACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACA GCTCACACCCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACACCAGACAGCTCACACCCCTCTC		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding					4608		chr1	TogoVar
LHPP_chr10_124456823_124619141	124507185	G G	GGGTAGAC others(408): Show GGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGG TAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGG GAGGATTTCAGGTGAGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	260	0.0039	415	c.624 others(432): Show c.624+9059_624+9060insTAGACAGGATTTCAGGTGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGA GGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(408): Show CAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTCGGTGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG GATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTC AGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	260	0.0039	415	c.625 others(432): Show c.625-9482_625-9481insGGGGGATAGGGAGGATTTCAGGTCGGTG GGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGAGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAG GCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(408): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04184.hp2 HG04204.hp1 others(1): Show HG02602.hp1 HG04184.hp2 HG04204.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0075 a0001c0001t0001g0115 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0004g0214	4	390	0.0103	415	c.112 others(432): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735535	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01496.hp1 HG01515.hp2 others(2): Show HG01071.hp1 HG01496.hp1 HG01515.hp2 HG01978.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0074 a0001c0001t0004g0032 a0001c0001t0004g0195 a0001c0001t0001g0074 a0001c0001t0004g0032 a0001c0001t0004g0195	5	390	0.0128	415	c.112 others(432): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735535	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00733.hp2 others(5): Show HG00099.hp2 HG00323.hp2 HG00733.hp2 HG01168.hp2 HG03139.hp1 HG03225.hp1 HG03491.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001	a0001c0001t0002g0060 a0001c0001t0002g0176 a0001c0001t0002g0177 others(3): Show a0001c0001t0002g0060 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0003g0052 a0001c0001t0007g0248 a0001c0003t0001g0081	8	390	0.0205	415	c.112 others(432): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	390	0.0026	415	c.112 others(432): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02735.hp2 HG02738.hp1 others(10): Show HG02080.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03492.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18980.hp2 NA19058.hp1 NA19064.hp2 NA19079.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0001c0001t0001 a0001c0001t0003 a0001c0005t0003	a0001c0001t0001g0004 a0001c0001t0003g0004 a0001c0001t0003g0021 others(4): Show a0001c0001t0001g0004 a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0048 a0001c0001t0003g0141 a0001c0005t0003g0223 a0001c0005t0003g0224	13	390	0.0333	415	c.112 others(432): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
MLPH_chr2_237482251_237560322	237544562	G G	GGGGGACA others(408): Show GGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTTGGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTTGGGGGACA GTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGG GGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTG GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGT GGGCACGGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	286	0.0035	415	c.153 others(434): Show c.1539+1907_1539+1908insACAGTGGTGAGTGGGGGCACGGTAGT GACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAG TGGTGAGTTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGAC AGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGG CGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTG GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGT GGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(408): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	250	0.0040	415	c.225 others(432): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432643	G G	GGAGAGAG others(408): Show GGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGA AGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGAGAGAGAGAA AGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02451.hp2 others(4): Show HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02896.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0015 a0001c0004t0005 a0001c0004t0014 others(1): Show a0001c0001t0015 a0001c0004t0005 a0001c0004t0014 a0001c0007t0008	a0001c0001t0015g0210 a0001c0004t0005g0113 a0001c0004t0005g0230 others(4): Show a0001c0001t0015g0210 a0001c0004t0005g0113 a0001c0004t0005g0230 a0001c0004t0005g0232 a0001c0004t0014g0196 a0001c0004t0014g0231 a0001c0007t0008g0069	7	250	0.0280	415	c.225 others(432): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(408): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG04184.hp2 HG04204.hp1 others(1): Show HG02602.hp1 HG04184.hp2 HG04204.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0005 a0001c0001t0001g0023	4	364	0.0110	415	c.18 others(426): Show c.1863_*1864insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735535	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG01978.hp1 others(1): Show HG01496.hp1 HG01515.hp1 HG01978.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0003g0004 a0001c0001t0001g0005 a0001c0001t0003g0004	4	364	0.0110	415	c.18 others(426): Show c.1862_*1863insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1767		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735535	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01168.hp1 others(2): Show HG00323.hp2 HG00733.hp1 HG01168.hp1 HG03225.hp1 HG03491.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0052 a0003c0003t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0052 a0003c0003t0001g0019	5	364	0.0137	415	c.18 others(426): Show c.1862_*1863insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1767		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	415	c.18 others(426): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(408): Show AAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02735.hp2 HG02738.hp2 others(10): Show HG02080.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG03492.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18980.hp1 NA19058.hp1 NA19064.hp1 NA19079.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0024	13	364	0.0357	415	c.18 others(426): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MUC4_chr3_195741771_195816929	195760591	G G	GCTAGGAT others(408): Show GCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAG TGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCA GCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGA GTGGAGGGGGCTGGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTG GGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGGGTCCA GCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGG ATGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGGCT GGGAAGGGGTCCAGCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0060 a0060	a0060c0199 a0060c0199	a0060c0199t0009 a0060c0199t0009	a0060c0199t0009g0224 a0060c0199t0009g0224	1	249	0.0040	415	c.148 others(434): Show c.14848+292_14848+293insTGCTGGACCCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACCCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCACTCCATCCTAG TGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTC CACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTA GCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(408): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATAATATATATTATATATAATATATATTATAT AAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	368	0.0027	415	c.51 others(426): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATATATTATATAATATAATATATATTTTATATAATATATATTATA TATAATATAATATATATTTTATAAAATATATATTATATAATATAATATAT ATTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATA TATATTATATAATATAATATATATTATATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTT TATATAATATATATTATATATAATATAATATATATTTTATATAATATATA TTATATATAATATAATATATATTTTATATAATATATATTATATATAATAT AATATATATTATATATAATATATATTATATA		MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding					4927		chr12	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(408): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCAT AAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	350	0.0029	415	c.-28 others(426): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTT ATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATA TATCATATATAAAAATTTATATTTATATATC		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2793		chr3	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(408): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTG ATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAA TAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATA ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAATT TCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03471.hp1 HG01109.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0080 a0001c0002t0004g0081 a0001c0002t0004g0080 a0001c0002t0004g0081	2	364	0.0055	415	c.84 others(424): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAG GTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATA ATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCT GGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGA GGTTGATGTAATTTCTGGGGGAGGTTGAT		NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding					227		chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(408): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGAGGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0239 a0001c0001t0007g0239	1	324	0.0031	415	c.140 others(432): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCCTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCTCCACCCACTCCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(408): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0011 a0001c0003t0008g0011	1	324	0.0031	415	c.140 others(432): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NXN_chr17_794310_984776	949145	G G	GCGGCCTC others(408): Show GCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCC TCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCC CCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCC TCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	242	0.0041	415	c.360 others(434): Show c.360+30173_360+30174insGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPCML_chr11_132409981_133537501	133082580	A A	ATCCTCTC others(408): Show ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTC GCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCAT CCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCC CCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCT TCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCC CCTCCTCCCCTCCTCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0064 a0001c0001t0009g0064	1	68	0.0147	415	c.62- others(434): Show c.62-139571_62-139570insCGAGGAGGGGAGGAGGGGAAGGGGGA TGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGG GCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCG AGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGG GGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGG AGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGG AGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGG AGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133082580	A A	ATCCTCTC others(408): Show ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTC GCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCAT CCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCC CCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCT TCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCC CCTCCTCCCCTCCTCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	68	0.0147	415	c.62- others(434): Show c.62-139571_62-139570insCGAGGAGGGGAGGAGGGGAAGGGGGA TGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGG GCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCG AGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGG GGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGG AGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGG AGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGG AGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133082580	A A	ATCCTCTC others(408): Show ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTC GCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCGAT CCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCC CCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCT TCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCC CCTCCTCCCCTCCTCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	68	0.0147	415	c.62- others(434): Show c.62-139571_62-139570insCGAGGAGGGGAGGAGGGGAAGGGGGA TGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGG GCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCG AGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATCGGCGAGG GGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGG AGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGG AGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGG AGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGATGAGGAGG GGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar

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Search Results (Total: 10000 hits)