Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHPT1_chr12_101692640_101734074	101704514	G G	GCCTCAGC others(655): Show GCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGTGCACCACCATGCCTG GCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCAGGC TGGGCTCGAACTCCTGACCTCGGGTGATCCACCCACCTCAGCCTCCCAAA GTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGTTTTTCAAAA TACATTAAATTTTTTCAAAATATATTAAAATAAACATAAACATTCAATTG AAAAGTTTACCTACAGATCACCTAAAATTATCTGATGGAGTATCAGTAAT AACAGTAACAGTAACAAATACTGAGCTCCTTCCATATGCCCAGCACTTTT ATAAACATTTTACATGTGATAAGTCATTTAATTTTCACAATGAGAGAGGA GCAATGATTATTACCATTTTCAAATGGAGAGACTAAGGCACTGTAAAGTG ATTCATCCAACTCATTTAGCCAGTAAGTAGCAGAGCAAATGTGGGTGCAA GTAGAGTCTAGAGTCTATGCCCCTAACCACTCTGCAAGAAAAACCTGGGG CATGTATTCTTCCCATTGCTTTTTTGTTTTGTTTGTTTGTTTGTTTGTTT TTGAGATAGGGTCTCACTTGGCTCACTGCAACCTTGGCCTACTGTCCTCA AGTGATCCTCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp2 HG01884.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	2	402	0.0050	662	c.273 others(679): Show c.273+7058_273+7719dupCAGCTGGGATTACAGGTGTGCACCACCA TGCCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACTATGTTGG TCAGGCTGGGCTCGAACTCCTGACCTCGGGTGATCCACCCACCTCAGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGTTTT TCAAAATACATTAAATTTTTTCAAAATATATTAAAATAAACATAAACATT CAATTGAAAAGTTTACCTACAGATCACCTAAAATTATCTGATGGAGTATC AGTAATAACAGTAACAGTAACAAATACTGAGCTCCTTCCATATGCCCAGC ACTTTTATAAACATTTTACATGTGATAAGTCATTTAATTTTCACAATGAG AGAGGAGCAATGATTATTACCATTTTCAAATGGAGAGACTAAGGCACTGT AAAGTGATTCATCCAACTCATTTAGCCAGTAAGTAGCAGAGCAAATGTGG GTGCAAGTAGAGTCTAGAGTCTATGCCCCTAACCACTCTGCAAGAAAAAC CTGGGGCATGTATTCTTCCCATTGCTTTTTTGTTTTGTTTGTTTGTTTGT TTGTTTTTGAGATAGGGTCTCACTTGGCTCACTGCAACCTTGGCCTACTG TCCTCAAGTGATCCTCCCCCCTCAGCCTCCCAAG	CHPT1	ENSG00000111666.11	transcript	ENST00000229266.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(655): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATGAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCT GTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCC ACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAG ACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTG ATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	406	0.0025	662	c.156 others(677): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATGAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAG GCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCAG GTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGC GCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTTT CACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCTG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(655): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCT GTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCC ACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAG ACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTG ATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp1 NA18522.hp2 others(1): Show HG02970.hp2 HG06807.hp1 NA18522.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0005 a0001c0013t0008 a0001c0001t0005 a0001c0013t0008	a0001c0001t0005g0035 a0001c0001t0005g0154 a0001c0013t0008g0155 a0001c0001t0005g0035 a0001c0001t0005g0154 a0001c0013t0008g0155	4	406	0.0099	662	c.156 others(677): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAG GCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAG GTTCAAGGAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTTT CACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCTG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(655): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCT GTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCC ACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTATTTTTAGTGGAG ACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTG ATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03017.hp1 HG03688.hp2 others(3): Show HG01099.hp2 HG03017.hp1 HG03688.hp2 NA18994.hp2 NA19080.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 others(3): Show a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216	6	406	0.0148	662	c.156 others(677): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAG GCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCAG GTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGC GCCTGCCACCACGCCCGGCTAATTTTTTATTTTTAGTGGAGACAGGGTTT CACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCTG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(655): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCT GTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCC ACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAG ACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTG ATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0016 a0004c0006 a0005c0007 a0006c0008 a0007c0010 a0008c0015 a0009c0011 a0010c0012 a0012c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0004t0001 a0001c0016t0002 a0004c0006t0002 a0005c0007t0002 a0006c0008t0001 a0007c0010t0002 a0008c0015t0001 a0009c0011t0001 a0010c0012t0002 a0012c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(161): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0003g0005 a0001c0001t0003g0038 a0001c0001t0003g0166 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0210 a0001c0001t0003g0221 a0001c0001t0004g0008 a0001c0001t0004g0051 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0089 a0001c0001t0006g0001 a0001c0001t0007g0036 a0001c0001t0010g0229 a0001c0001t0011g0005 a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0016 a0001c0004t0001g0019 a0001c0004t0001g0146 a0001c0016t0002g0185 a0004c0006t0002g0001 a0005c0007t0002g0200 a0006c0008t0001g0206 a0007c0010t0002g0001 a0008c0015t0001g0124 a0009c0011t0001g0077 a0010c0012t0002g0009 a0012c0009t0001g0019	312	406	0.7685	662	c.156 others(677): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAG GCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCAG GTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGC GCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTTT CACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCTG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP2_chr13_52450478_52481627	52460717	G G	GCTGGGAT others(655): Show GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTTACACTGTTAA AAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACACTTGTA ATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTCAGGAG TTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAAAAATA CAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTTGCAGT GAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTTTTTTC TTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTAG AGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCAGGTTCA AGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTG CCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTTTCACCA TCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCTGCCTTG GCCTCCTAAAGTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	406	0.0025	662	c.156 others(677): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAG GCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCAG GTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGC GCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTTT CACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCTG CCTTGGCCTCCTAAAGTCCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(655): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGG GAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGG GGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGAGACAG AGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	216	0.0046	662	c.923 others(681): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTC CACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCC CCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCT CCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCC CTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(655): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCA AACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACCCCCGCC ACCCCCTGCAAACGCCCACCACCCCCCCACCCCCCCACCCCTCACCACCC CCTGCAAACCCCCACCCCCCCCCGCAAACCCCCGCCACCCTCTGCAAACC CCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCT GCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACC ACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCAA ACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCC CCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTC ACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTG CAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCA CCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	662	c.172 others(679): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCC CTGCAAACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACCC CCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCCCCCACCCCTCAC CACCCCCTGCAAACCCCCACCCCCCCCCGCAAACCCCCGCCACCCTCTGC AAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCAC CCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCC TCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCC TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCAC CCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACC CCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCT CACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCC CACCCCTCACCACCCCCCGCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157369660	A A	AGGCCCCT others(655): Show AGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTAT TAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACAT TATTATTAAACAGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTT AACATCATTATTAAACAGGCCTTTCATAATGTTATTATTAAACGGGCCCC TTCTTAACATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACA GGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAA ACGGGCCCTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTAT TATTAAAGAGGCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAAC GTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTT CTTAACATTATTATTAAATGGGACCCTTCTTAAGATTATTAAACGGGCCC CTTCTTAACATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAAG AGGCCCTTTCTTCACATTATTATTAAACAGGCCCTTTCTTAACATTATTA TTAAACCGGCCTTTCATTAACGTTATTATTAAATGGGCCCCTTCTTAACA TTATTATTAAACG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	372	0.0027	662	c.346 others(679): Show c.346+2355_346+2356insTGTTATTATTAAACGGGCCCCTTCTTAA CATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGGCCCCT TCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCC CTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAA GAGGCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAACGTTATTA TTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACA TTATTATTAAATGGGACCCTTCTTAAGATTATTAAACGGGCCCCTTCTTA ACATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAAGAGGCCCT TTCTTCACATTATTATTAAACAGGCCCTTTCTTAACATTATTATTAAACC GGCCTTTCATTAACGTTATTATTAAATGGGCCCCTTCTTAACATTATTAT TAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTT ATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACATTATTATTAAACGAGCCCC TTCTTAACATCATTATTAAACAGGCCTTTCATAA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(655): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGG AAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG TGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGG AGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGG AGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0087 a0001c0001t0011g0059 a0001c0001t0001g0087 a0001c0001t0011g0059	2	294	0.0068	662	c.-38 others(673): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGA GGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGG GGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGA GAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EHMT1_chr9_137614005_137841127	137721354	C C	CCAGACTT others(655): Show CCAGACTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCCTC CCAGACTTCTCACACTCACCCCTCCCAGACTTCTCGCACTCACCCCCCCA GACTTCTCGCACTCACCCCCCCAGACTTCTCGCACTCACCCCTCCCAGAC TTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCCTCCCAGAC TTCTCACACTCACTCCTCCCAGACTTCTCACACTCACTCCTCCCAGACTT CTCACACTCACCCTCCCAGACTTCTCACACTCACCCCACCCAGACTTCTC ACACTCACCCCCCCAGACTTCTCACACTCACCCCTCCCAGACTTCTCACA CTCACTCCTCCCAGACTTCTCACACTCGCCCCCTCCCAGACTTCTCACAC TCGCCCCCTCCCAGACTTCTCACACTCGCCCCTCCCAGACTTCTCACACT CACCCCCCCAGACTTCTCACACTCACCCCCTCCCACGCCTCTCACCCCCT CCCAAGCCTCTCACCCCCTCCCACGCCTCTCACCCCCTCCCGCGCCTCTC ACCCCCTCCCGCGCCTCTCACCCCCTCCCGCGCCTCTCACCCCCTCCCAT GCCTCTCACCCTCACCCCCTCCCAAGCCCTCACCCCCTCCCACGCCTCTC ACCCCCTCCCAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0157 a0001c0004t0001g0157	1	170	0.0059	662	c.642 others(679): Show c.642+4173_642+4174insAGACTTCTCACACTCACCCCCTCCCAGA CTTCTCACACTCACCCCCTCCCAGACTTCTCACACTCACCCCTCCCAGAC TTCTCGCACTCACCCCCCCAGACTTCTCGCACTCACCCCCCCAGACTTCT CGCACTCACCCCTCCCAGACTTCTCACACTCACCCCCTCCCAGACTTCTC ACACTCACCCCCTCCCAGACTTCTCACACTCACTCCTCCCAGACTTCTCA CACTCACTCCTCCCAGACTTCTCACACTCACCCTCCCAGACTTCTCACAC TCACCCCACCCAGACTTCTCACACTCACCCCCCCAGACTTCTCACACTCA CCCCTCCCAGACTTCTCACACTCACTCCTCCCAGACTTCTCACACTCGCC CCCTCCCAGACTTCTCACACTCGCCCCCTCCCAGACTTCTCACACTCGCC CCTCCCAGACTTCTCACACTCACCCCCCCAGACTTCTCACACTCACCCCC TCCCACGCCTCTCACCCCCTCCCAAGCCTCTCACCCCCTCCCACGCCTCT CACCCCCTCCCGCGCCTCTCACCCCCTCCCGCGCCTCTCACCCCCTCCCG CGCCTCTCACCCCCTCCCATGCCTCTCACCCTCACCCCCTCCCAAGCCCT CACCCCCTCCCACGCCTCTCACCCCCTCCCAAGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3316016	C C	CCACAGCC others(655): Show CCACAGCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTACC ACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCA CCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCA CACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCAC CACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACC ATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACA CCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCA CCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCAT CCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATACACACC CCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCC CCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCATCAC CACCATCCCCATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	250	0.0040	662	c.259 others(681): Show c.259+22000_259+22001insTATGGGGATGGTGGTGATGGTGGTAG GGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAT GGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGG GGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGG TGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137327999	T T	TAAAAACA others(655): Show TAAAAACAACAAATAAACACCCACATGATGAGTAAAAACAACGAACAAAC ACCCACGTGATGAGTAAAAACAACTAATATACACCCATATCATGAGTAAA AACAACTAATATACTCCCATATGATGAGTAAAAACAACTAATATACACCC ACATGATGAGTAAAAACAACGAATAAACACCCACATGATGAGTAAAAAAC AATGAATATACACCCACATGAGTAAAAACAACTAATATACTCCCATATGA CGAGTAAAAACAACGAATATACACCCACATGATGAGTAAAAACAACAAAC ACCCACATGATGAGTAAAAACAACTAATATACTCCCACATGATGAGTAAA AACAACTAATATACTCCCATATGATGAGTAAAAACAACTAATATACACCC ACATGATGAGTAAAACAACTAATATACTCCCATATAATGAGTAAAACAAC TATATACTCCCATATGATGAGTAAAAACAATGAATATACACCCACATGAT GAGTAAAACAACTAATATACTCCCATATGATGAGTAAAAACAACAAGTAC ACACCCACATGATGAGTAAAAACAACTAATATACTCCATATGAGGAGTAA AAACAACAAGTACACACCCACATGATGAGTAAAAACAACTAATATACACC AATATGATGAGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0039 a0008c0013t0001g0039	1	82	0.0122	662	c.199 others(681): Show c.1999-3857_1999-3856insTACTCATCATATTGGTGTATATTAGT TGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTTTTTACTCCTCATAT GGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTTT TTACTCATCATATGGGAGTATATTAGTTGTTTTACTCATCATGTGGGTGT ATATTCATTGTTTTTACTCATCATATGGGAGTATATAGTTGTTTTACTCA TTATATGGGAGTATATTAGTTGTTTTACTCATCATGTGGGTGTATATTAG TTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATG TGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTTTGTTGTTTTT ACTCATCATGTGGGTGTATATTCGTTGTTTTTACTCGTCATATGGGAGTA TATTAGTTGTTTTTACTCATGTGGGTGTATATTCATTGTTTTTTACTCAT CATGTGGGTGTTTATTCGTTGTTTTTACTCATCATGTGGGTGTATATTAG TTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATGATA TGGGTGTATATTAGTTGTTTTTACTCATCACGTGGGTGTTTGTTCGTTGT TTTTACTCATCATGTGGGTGTTTATTTGTTGTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(655): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGG AAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG TGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGG AGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGG AGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0013 a0001c0013t0001g0013	2	254	0.0079	662	c.35 others(673): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGA GGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGG GGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGA GAGAGGAAGGAAGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
GPIHBP1_chr8_143208218_143222170	143218244	C C	CAACACCA others(655): Show CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAA CACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCAT CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCATCCC CAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCAACACCATCCCCAACACC ACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCCACACCACCC CCAACACCACCCCCAACACCACCCCCACACCACCCAACACCGCCCCCACA CCACCCCCACACCACCCCCACACCACCCCCACACCACCCCCAACACCACC GCCAACACCACCCCAACACCACCCCAACACCATCCCCAACACCACCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACC ACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACC CCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0009 a0001c0004t0011g0009	1	106	0.0094	662	c.27 others(673): Show c.2726_*2727insAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CATCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCA CCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCC AACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAAC ACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCA CCCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCACACCACCC AACACCGCCCCCACACCACCCCCACACCACCCCCACACCACCCCCACACC ACCCCCAACACCACCGCCAACACCACCCCAACACCACCCCAACACCATCC CCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAA CACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACC ATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1075		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(655): Show TATATAAATATATATATTTATATTTATTTATACATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATATATTTATATTTACAAA TATATATATTTATATATATATTTATATTTATACATATTTATATTTATATA TATATATATAAATATATATTTATGTATATTTATATATAAATATAAATATA TATTTATATATAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	208	0.0048	662	c.-97 others(679): Show c.-97-2605_-97-2604insATTTATATTTATTTATACATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATATTTATAT TTACAAATATATATATTTATATATATATTTATATTTATACATATTTATAT TTATATATATATATATAAATATATATTTATGTATATTTATATATAAATAT AAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(655): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC TCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGA CCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCC TCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCC TCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0153 a0001c0007t0001g0153	1	282	0.0036	662	c.258 others(679): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCT CAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCC CTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400203	C C	CCTCGCCC others(655): Show CCTCGCCCATCTGCCCCCTTCCCACTCCTGCCCCCCCCAGTCCCTCCTGC CCCCTCCCCTCCTGCCTCCTGCCCCCTCCCCCTCCCTGCCCCCTCCCCCT CCTGCCCCCTCCCCTCCTGGCCCCTCCCCTCCTGCCCCTTCCCCTCCTGC CCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCC CCTCCTGCCCCCTTCCCCTCCTGCCCCTCACTGCCCCCCCTCCCCATCCT GCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCACTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCTCTCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCCTC CTGTACCCCTCCCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCC CCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCC CCTCCTCCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	276	0.0036	662	c.66 others(673): Show c.6630_*6631insTGAGGGGAGGAGGGGAGGGGGCAGGAGGGGAGGG GGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGGCAGGGGGCAGGAGGGG AGGGGGCAGGAGGGGGGGGAGGGGTACAGGAGGGGGAGGGGGGAGGGGTA CAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCA GGAGGGGAGAGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGTGGGAG GGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGATGGGGAGGGGGGGCAGT GAGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGAGGGGGCAGGAGGG CAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGG AGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCA GGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGGAAGGGGCAGGA GGGGAGGGGCCAGGAGGGGAGGGGGCAGGAGGGGGAGGGGGCAGGGAGGG GGAGGGGGCAGGAGGCAGGAGGGGAGGGGGCAGGAGGGACTGGGGGGGGC AGGAGTGGGAAGGGGGCAGATGGGCGAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3271		chr2	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(655): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGC CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACA GCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCC ACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCC CAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACC CCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCT GCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	312	0.0032	662	c.-41 others(677): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGC CACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCC CCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCAC CCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGC TGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(655): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAG GTGGGGTGGGGCG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	270	0.0037	662	c.178 others(679): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(655): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGG GCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGC AGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTG GTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGG GAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAG GTGGGGTGGGGCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0255 a0001c0012t0005g0255	1	270	0.0037	662	c.178 others(679): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCA GGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(655): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAG GGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTG AAGGGGAGGAGGAGAAGTGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAG GAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAG GAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGA GGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGA AGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGG AGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCC GGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGAGAAAGGAAGAGG GGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0069 a0001c0001t0012g0069	1	386	0.0026	662	c.-46 others(673): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCTCCTCC TCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCTC CCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCTC CTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCC TCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCC TCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCTTCTCTCCTCCTCCCCTCCTTTCTCCTCCTCCTCCCCTCCTTTCTC CCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTC TTCTTTTCTCCACTTCTCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTT CTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTC ACCTTTTCCTCCTCCTCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCT TTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTC TCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCT CCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(655): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACC ACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACAC TCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAG AGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTC TCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCC GCCATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTC ACCCGAAAGATCCCTCCCCATCCCCCCCACCACTCACCCGAAAGATCCCT CTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATC ACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCAC CCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGAT CCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCA CCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAAC CACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAA AGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19066.hp1 NA18991.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0078 a0001c0001t0003 a0001c0001t0078	a0001c0001t0003g0283 a0001c0001t0078g0284 a0001c0001t0003g0283 a0001c0001t0078g0284	2	398	0.0050	662	c.64+ others(679): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG ATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGA GGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCT CGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGT GTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGG TGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGA GAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGG GGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGA TCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGG TGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTT GGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGG GGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAG AGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(655): Show CAAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAG CTCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGA TGGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACT AAAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAAC AATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATG TTTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAA TTCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTT GAGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGC AGTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGAT CATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTG TAATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGA AGGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAG CAAGGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01891.hp2 HG02109.hp2 others(15): Show HG01070.hp2 HG01891.hp2 HG02109.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03490.hp1 HG03669.hp1 HG03710.hp1 HG06807.hp1 NA18979.hp2 NA19030.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0003 a0001c0001t0004 a0003c0007t0003 a0001c0001t0003 a0001c0001t0004 a0003c0007t0003	a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0016 others(15): Show a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0158 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0266 a0001c0001t0004g0074 a0003c0007t0003g0017	18	286	0.0629	662	c.52 others(673): Show c.5260_*5261insAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGGT GTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCC TGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATGC CCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCCA ACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTTA TTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATCT CCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCAA ATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTGT ATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCAT GTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCACT TTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAGA CCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCCA TCATCCACTTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(655): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG01168.hp1 others(5): Show HG00642.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG02451.hp1 HG02818.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021	a0001c0001t0003g0175 a0001c0001t0004g0014 a0001c0001t0004g0052 others(5): Show a0001c0001t0003g0175 a0001c0001t0004g0014 a0001c0001t0004g0052 a0001c0001t0004g0059 a0001c0001t0004g0187 a0001c0001t0004g0257 a0001c0001t0004g0267 a0001c0001t0021g0159	8	286	0.0280	662	c.52 others(673): Show c.5260_*5261insTAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGG TGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTC CTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATG CCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGAC AGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCC AACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTT ATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATC TCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCA AATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTG TATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCA TGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCAC TTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAG ACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCC ATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(655): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCA AACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAGCA CACACTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAACA CACACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAAA CACACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAA CACACACACCTCAAAACACACACACCTCCAAAAACACACACATACCTAAC ACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACAC ACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01168.hp2 others(13): Show HG00673.hp1 HG01099.hp2 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01993.hp1 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG03239.hp2 HG03654.hp1 NA18970.hp2 NA18971.hp2 NA19088.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0003 a0001c0001 a0003c0004 a0004c0003	a0001c0001t0001 a0003c0004t0001 a0004c0003t0002 a0001c0001t0001 a0003c0004t0001 a0004c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0252 a0003c0004t0001g0221 a0003c0004t0001g0222 a0004c0003t0002g0102	16	262	0.0611	662	c.212 others(681): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAGCACACACTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACAC CCCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACA CACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACA CCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCCAAAAACAC ACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACAC ACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(655): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTT CAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0375 a0002c0003t0001g0375	1	448	0.0022	662	c.56 others(673): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGT GGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(655): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTT CAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01256.hp2 HG01884.hp1 others(7): Show HG00280.hp2 HG01256.hp2 HG01884.hp1 HG02148.hp1 HG02486.hp1 HG03098.hp2 HG03688.hp2 HG04115.hp2 NA18962.hp2 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0001c0001t0005 a0007c0012t0001 a0001c0001t0001 a0001c0001t0005 a0007c0012t0001	a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0180 others(7): Show a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0180 a0001c0001t0001g0278 a0001c0001t0001g0302 a0001c0001t0001g0334 a0001c0001t0001g0381 a0001c0001t0001g0397 a0001c0001t0005g0025 a0007c0012t0001g0218	10	448	0.0223	662	c.56 others(673): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGT GGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(655): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCCGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTT CAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	448	0.0022	662	c.56 others(673): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCGGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGT GGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(655): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTT CAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(190): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0005 a0001c0010 others(5): Show a0001c0001 a0001c0005 a0001c0010 a0001c0014 a0002c0002 a0002c0003 a0006c0013 a0008c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0005t0001 a0001c0010t0014 a0001c0014t0001 a0002c0002t0004 a0002c0002t0024 a0002c0003t0001 a0006c0013t0001 a0008c0006t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0065 others(185): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0391 a0001c0001t0001g0393 a0001c0001t0001g0396 a0001c0001t0001g0398 a0001c0001t0001g0400 a0001c0001t0001g0402 a0001c0001t0001g0404 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0408 a0001c0001t0001g0415 a0001c0001t0001g0417 a0001c0001t0001g0420 a0001c0001t0005g0002 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0029 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0037 a0001c0001t0005g0041 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0053 a0001c0001t0005g0056 a0001c0001t0010g0425 a0001c0001t0010g0428 a0001c0001t0012g0004 a0001c0001t0013g0363 a0001c0001t0013g0364 a0001c0001t0020g0298 a0001c0001t0021g0274 a0001c0001t0025g0430 a0001c0005t0001g0003 a0001c0005t0001g0071 a0001c0005t0001g0074 a0001c0005t0001g0075 a0001c0005t0001g0076 a0001c0005t0001g0077 a0001c0005t0001g0079 a0001c0005t0001g0081 a0001c0005t0001g0178 a0001c0005t0001g0309 a0001c0010t0014g0423 a0001c0014t0001g0183 a0002c0002t0004g0179 a0002c0002t0004g0192 a0002c0002t0004g0205 a0002c0002t0004g0284 a0002c0002t0004g0301 a0002c0002t0004g0367 a0002c0002t0004g0380 a0002c0002t0004g0387 a0002c0002t0004g0390 a0002c0002t0004g0403 a0002c0002t0004g0419 a0002c0002t0024g0424 a0002c0003t0001g0243 a0002c0003t0001g0350 a0002c0003t0001g0418 a0006c0013t0001g0120 a0008c0006t0001g0063	193	448	0.4308	662	c.56 others(673): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGT GGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(655): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTT CAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0395 a0001c0001t0001g0395	1	448	0.0022	662	c.56 others(673): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGT GGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(655): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTT CAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01106.hp1 HG00140.hp1 HG00323.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0213 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0213	3	448	0.0067	662	c.56 others(673): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CCGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGT GGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(655): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTT CAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	448	0.0022	662	c.56 others(673): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCAC GGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(655): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGTTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTT CAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02056.hp1 HG02074.hp1 others(20): Show HG00438.hp2 HG02056.hp1 HG02074.hp1 HG04199.hp2 NA18941.hp1 NA18946.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18977.hp2 NA18988.hp1 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19088.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0009 a0002c0002t0011 a0002c0002t0004 a0002c0002t0009 a0002c0002t0011	a0002c0002t0004g0110 a0002c0002t0004g0128 a0002c0002t0004g0131 others(20): Show a0002c0002t0004g0110 a0002c0002t0004g0128 a0002c0002t0004g0131 a0002c0002t0004g0140 a0002c0002t0004g0146 a0002c0002t0004g0166 a0002c0002t0004g0175 a0002c0002t0004g0193 a0002c0002t0004g0241 a0002c0002t0004g0251 a0002c0002t0004g0255 a0002c0002t0004g0264 a0002c0002t0004g0270 a0002c0002t0004g0271 a0002c0002t0004g0280 a0002c0002t0004g0281 a0002c0002t0004g0287 a0002c0002t0004g0331 a0002c0002t0009g0027 a0002c0002t0009g0031 a0002c0002t0009g0036 a0002c0002t0009g0046 a0002c0002t0011g0059	23	448	0.0513	662	c.56 others(673): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGT GGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGA TCATGAGGTCAGGAGATCGAGAACATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGT AGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(655): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATGATA TAATATATAATTATATTATATATTATATAATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATATCATATATAATTATATTATATATTATAATACATTTAAT ATAATTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATT ATAATATATAATATATTATATATAATTATATTATAACATATTATATATAA TTATATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAA TATATAATTATATTCTATATATAATTATATATAATATAATTATATTCTAT ATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	662	c.-32 others(673): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATCATATATAATATAATTATATATTATATAATATATTTAATAT AATTATATATAATATAATTATATTATATAATTATATTATAATTATATAAT ATAGAATATAATTATATATTATATAATTATATTCTATATAGAATATAATT ATATATTATATAATTATATTATATAGAATATAATTATATATTATATAATT ATATTCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(655): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC CTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCT CCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	140	0.0071	662	c.114 others(681): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCT CCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCC CATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(655): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCT CCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	140	0.0071	662	c.114 others(681): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCC CATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(655): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCT CTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCT CCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCC TCCCCTCCCCTCCTCCCCTCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCT CCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	140	0.0071	662	c.114 others(681): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCC TCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCC GTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCTCCCCTC CTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCC CATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(655): Show TGTATATATATATGTATATATATGTATATATATGTATATATATATGTATA TATATGTATATATATATATGTATATATATATGTATATATATATGTATATA TATATGTGTATATATATGTATATATATGTATATATATATGTATATATATA TGTATATATATGTATATATATGTATATATATATGTATATATATGTATATA TATATGTATATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATGTATATATATATGTATATATATATGTATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATATGTA TATATATATGTATATATATATGTATATATATGTATATATATATGTATATA TATATGTATATATATATGTATATATATATGTATATATATATATGTATATA TATATGTATATATATATATGTATATATATATGTATATATATATGTATATA TATATGTATATATATATATGTATATATATATGTATATATATATATGTATA TATATATGTATATATATATATGTATATATATATGTATATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATATGTA TATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG01243.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	2	410	0.0049	662	c.484 others(677): Show c.484-693_484-692insGTGTATATATATATACATATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATATATAC ATATATATATACATATATATATATACATATATATATACATATATATATAT ACATATATATATACATATATATATATACATATATATATACATATATATAT ACATATATATATACATATATATATATACATATATATATACATATATATAT ATACATATATATATACATATATATATACATATATATATACATATATATAT ACATATATATACATATATATATACATATATATATACATATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATACATAT ATATATACATATATATATACATATATATACATATATATATACATATATAT ATACATATATATATACATATATATATACATATATATATACATATATATAC ATATATATATACATATATATACATATATATACATATATATATACATATAT ATATACATATATATACATATATATACACATATATATATACATATATATAT ACATATATATATACATATATATATATACATATATATACATATATATATAC ATATATATACATATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(655): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19080.hp1 NA19057.hp2 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0082 a0003c0003t0004g0077 a0003c0003t0001g0082 a0003c0003t0004g0077	2	326	0.0061	662	c.358 others(679): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATACATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(655): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01516.hp2 others(6): Show HG00544.hp1 HG00609.hp2 HG01516.hp2 HG01517.hp1 HG02129.hp2 HG02135.hp1 NA18957.hp2 NA18969.hp2 NA19004.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0003 a0003c0003t0004 a0005c0005t0002 others(1): Show a0003c0003t0003 a0003c0003t0004 a0005c0005t0002 a0005c0005t0004	a0003c0003t0003g0001 a0003c0003t0004g0298 a0003c0003t0004g0299 others(5): Show a0003c0003t0003g0001 a0003c0003t0004g0298 a0003c0003t0004g0299 a0005c0005t0002g0061 a0005c0005t0002g0066 a0005c0005t0002g0071 a0005c0005t0002g0115 a0005c0005t0004g0006	9	326	0.0276	662	c.358 others(679): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(655): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0128 a0005c0005t0004g0128	1	326	0.0031	662	c.358 others(679): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT GTATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(655): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATA TATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTA TATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18962.hp1 NA18973.hp1 others(1): Show HG02129.hp1 NA18962.hp1 NA18973.hp1 NA19070.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0004 a0005c0005t0003 a0003c0003t0004 a0005c0005t0003	a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0087 others(1): Show a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0087 a0005c0005t0003g0068	4	326	0.0123	662	c.358 others(679): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT GTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATATAT TTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(655): Show AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTA TATAAATATACATATTTCAATATAAGTATGTATATAAATATACATATTTC AATATAAGTATGTATATAAATATACATATTTCAATATAAGTATGTATATA AATATACATATTTCAATATAAGTATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA AATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATA TAAGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATA TATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAG TATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0063 a0005c0005t0002g0064 a0005c0005t0002g0063 a0005c0005t0002g0064	2	326	0.0061	662	c.358 others(679): Show c.358+3191_358+3192insATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCA ATATAAGTATGTATATAAATATACATATTTCAATATAAGTATGTATATAA ATATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATAT AAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTAT AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATAT ATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGT ATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATAT ATTTAAATATAAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(655): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTT ATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0020 a0001c0002t0002g0002 a0001c0002t0002g0020	2	350	0.0057	662	c.-28 others(673): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(655): Show TCCTCTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTCT CCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCCT TCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCC CTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCT TCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0164 a0001c0001t0027g0164	1	326	0.0031	662	c.433 others(679): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGGAGGGGAGG GGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAA GGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	131680400	C C	CGTCTGTG others(655): Show CGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTG TGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATG TGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTAAG TGCCTGTGTGTGTGTCTGTGTAGGCATGCATGCCTCTGTGTCTGTGTGTG AGATCATGCCCGTGTCTGTGTCTGTGAGTGCCTCTGTGTGTGTGTGTGGG TCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTG TCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCGCTTCTGTGTAGGCATGTG TGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGTGCCTGTG TGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAG ATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGG CATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTTTCTG TGAGTGCCTCTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTG CCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCC TGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02922.hp2 others(4): Show HG01243.hp1 HG01884.hp2 HG02922.hp2 HG03130.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 a0001c0001t0004g0005 a0001c0001t0004g0029 a0001c0001t0007g0021 a0001c0001t0009g0050	7	86	0.0814	662	c.83- others(681): Show c.83-231120_83-231119insGCCTGTGTCTGTGTCTGTGAGTGCCT GTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGT GAGATCATGCCTGTGTCTGTGTCTGTAAGTGCCTGTGTGTGTGTCTGTGT AGGCATGCATGCCTCTGTGTCTGTGTGTGAGATCATGCCCGTGTCTGTGT CTGTGAGTGCCTCTGTGTGTGTGTGTGGGTCTGTGTAGGCATGTGTGCCT CTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGT GTGTGTGTGCGCTTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGA GATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAG GCATGTGTGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGT GCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGT GTGTGAGATCATGCCTGTGTCTGTTTCTGTGAGTGCCTCTGTGTGTGTGT GTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGA TCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTCTGTGT AGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(655): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAG ACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAA AGAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAG GAGAGAAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAA GACGGGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGA AAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGA GGAGAGAAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGA AGACGGGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGG AAAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAG GAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02451.hp1 others(6): Show HG01243.hp1 HG02145.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0004t0001 a0001c0005t0005 a0001c0001t0001 a0001c0004t0001 a0001c0005t0005	a0001c0001t0001g0011 a0001c0001t0001g0143 a0001c0001t0001g0149 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0043 a0001c0005t0005g0056 a0001c0005t0005g0057	9	326	0.0276	662	c.162 others(681): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTC CTCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTT CCCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCT CCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTT CCTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCC CCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCT CCCATCTTCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTC TCCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCC CTCCTTCCTCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(655): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTGAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGT CCCCCTCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGAC CCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGA CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACA GGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCC CCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCTCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCA CAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCA GGGACCCTCCCAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01928.hp1 HG02273.hp1 HG00733.hp2 HG01928.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0280 a0001c0001t0001g0012 a0001c0001t0001g0280	3	362	0.0083	662	c.981 others(679): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGCCCAGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTC TCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCG TTCTCCTGTTCTGAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGC CCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTT GGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGG CGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTC TCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCC GCTGTGCGTTCTCCTGTTCTGAGGCTGGGAGGGGGACGTTGGGAGGGTCC CTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTCAGGCTGGGCGGGGGGCGG GGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTG AGGCTGGGCGGGAGGGGGGGAGAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(655): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTAAT ACATATATGTATTACATATATAACATATATGTAATACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTAATACATATATAACATATATGTATTACATATATGTAATACATATATAA CATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	662	c.70 others(673): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTAATACATATATGTATTACATATATAACATATATGTAAT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTAATACATATATAACATATATGTATTACATATAT GTAATACATATATAACATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar

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Search Results (Total: 10000 hits)