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
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(299): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACGTGTATATATACTCATATACATGTGTGTA TATACGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	372	0.0027	306	c.894 others(321): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACACGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACA CACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTA TATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATA CACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575820	A A	ATGAGTAT others(299): Show ATGAGTATATACACGCGTATATATACTCATATACATGTGTATATACACGC GTATATATACTCATATACATGTGTATATACACGCGTATATATACTCATAT ACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATACAC GCGTATATATACTCATATACATGTGTATATACACGCGTATATATACTCAT ATACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATAC ACGCGTATATATACTCATATACATGTGTATATACACGTATATATACTCAT ATACATG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0351 a0001c0001t0004g0351	1	372	0.0027	306	c.894 others(321): Show c.894+450_894+451insCATGTATATGAGTATATATACGTGTATATA CACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTA TATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATA TACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAG TATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTA TATACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATG AGTATATATACGCGTGTATATACTCA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575820	A A	ATGTGTAT others(299): Show ATGTGTATATACACGCGTATATATACTCATATACATGTGTATATACACGC GTATATATACTCATATACATGTGTATATACACGCGTATATATACTCATAT ACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATACAC GCGTATATATACTCATATACATGTGTATATACACGCGTATATATACTCAT ATACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATAC ACGCGTATATATACTCATATACATGTGTATATACACGTATATATACTCAT ATACATG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01934.hp1 others(3): Show HG01256.hp2 HG01258.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0317 a0001c0001t0004g0010 a0001c0001t0004g0331 others(2): Show a0001c0001t0001g0317 a0001c0001t0004g0010 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333	6	372	0.0161	306	c.894 others(321): Show c.894+450_894+451insCATGTATATGAGTATATATACGTGTATATA CACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTA TATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATA TACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAG TATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTA TATACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATG AGTATATATACGCGTGTATATACACA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLIP2_chr7_74284407_74410935	74369854	C C	CAAAAAAA others(299): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGG AGCTCCAAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAA TACAAAAATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTC GGAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTG AGCCAGGCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCAAGACTCT GCCTCAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	278	0.0036	306	c.138 others(325): Show c.1381-3054_1381-3053insAAATCCAGGCACGGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGA GCTCCAAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAAT ACAAAAATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCG GAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGA GCCAGGCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCAAGACTCTG CCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(299): Show AATATATAAATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATAAATATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATAAATATATATGTAAATATATAAATA TATAAATATATATGTAAATATATAAATATATATAAATATATATATAAATA TATATAAATATATAAATATATATAAATACATATGTAAATATATAAATATA TATAAATATATAAATATATATAGATATATATGTAAATATATATAAATATA TATAGAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp1 HG01934.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0150 a0001c0001t0001g0152	2	264	0.0076	306	c.181 others(325): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATATTTATATATATATTTATATATTTATATAT ATTTATATATATATTTATATATTTATATATATTTATATATATATTTATAT ATTTATATATATTTATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(299): Show AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATGTAAATATATAAATATATAAATATATATGTAAATATATAAATA TATAAATATATATGTAAATATATAAATATATATAAATATATATATAAATA TATATAAATATATAAATATATATAAATACATATGTAAATATATAAATATA TATAAATATATAAATATATATAGATATATATGTAAATATATATAAATATA TATAGAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0234 a0012c0017t0001g0234	1	264	0.0038	306	c.181 others(325): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATTTACATATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138806033	T T	TGTGTGTG others(299): Show TGTGTGTGATGGTGTAGGTAATGGTGTGTGATGGTGTGTGTGTGATGGTG TGTGTGTGATGGTGTGTGTGTGTGATGGTGTAGTTAATGCTGTGTGGTGT GTGTGTGAGATGGTGCGTGTGTGATGGCGTGTGTGTGATGGTGTGTGTGT GTGATGGTGTGGGTAATGGTGTGTGGTGGTGTATGTTTGTGTGTGAGGGT GTGTGTGATGGTGTGTGTAATGGTGTGTGATGGTGTAGGTAATGGTGTGT GGTGGTGTGTGTGTGATGGTGTGTGTGATGGTGTGTGTAATGTGTGATAG TGTGTGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19065.hp1 NA19066.hp1 HG03017.hp2 NA19065.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0045 a0001c0002t0001g0102 a0001c0015t0001g0068 a0001c0002t0001g0045 a0001c0002t0001g0102 a0001c0015t0001g0068	3	158	0.0190	306	c.149 others(325): Show c.1494+1734_1494+1735insGCACACACTATCACACATTACACACA CCATCACACACACCATCACACACACACCACCACACACCATTACCTACACC ATCACACACCATTACACACACCATCACACACACCCTCACACACAAACATA CACCACCACACACCATTACCCACACCATCACACACACACACCATCACACA CACGCCATCACACACGCACCATCTCACACACACACCACACAGCATTAACT ACACCATCACACACACACACCATCACACACACACCATCACACACACACCA TCACACACCATTACCTACACCATCACACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(299): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGATGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18953.hp2 HG00621.hp1 NA18953.hp2	a0006 a0007 a0006 a0007	a0006c0037 a0007c0012 a0006c0037 a0007c0012	a0006c0037t0005 a0007c0012t0005 a0006c0037t0005 a0007c0012t0005	a0006c0037t0005g0081 a0007c0012t0005g0260 a0006c0037t0005g0081 a0007c0012t0005g0260	2	308	0.0065	306	c.371 others(325): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGATGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(299): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(140): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19030.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0021 a0022 a0026 a0027 a0028 a0029 a0036 a0038 a0039 a0045 a0047 a0049 a0051 a0053 a0056 a0059	a0001c0002 a0001c0010 a0001c0016 others(80): Show a0001c0002 a0001c0010 a0001c0016 a0001c0022 a0001c0046 a0001c0111 a0001c0124 a0001c0126 a0001c0132 a0001c0143 a0001c0166 a0002c0001 a0002c0006 a0002c0008 a0002c0018 a0002c0038 a0002c0041 a0002c0044 a0002c0103 a0002c0104 a0002c0127 a0002c0146 a0002c0151 a0002c0167 a0003c0005 a0003c0014 a0003c0015 a0003c0019 a0003c0021 a0003c0035 a0003c0072 a0003c0094 a0004c0020 a0004c0034 a0004c0073 a0004c0075 a0004c0087 a0004c0090 a0004c0093 a0004c0097 a0005c0028 a0005c0061 a0005c0062 a0005c0066 a0006c0004 a0006c0009 a0006c0037 a0007c0011 a0007c0086 a0008c0007 a0008c0029 a0008c0059 a0008c0067 a0010c0025 a0010c0184 a0011c0144 a0012c0158 a0013c0047 a0013c0153 a0013c0160 a0014c0036 a0014c0168 a0016c0023 a0016c0179 a0017c0024 a0018c0052 a0021c0163 a0022c0105 a0022c0147 a0026c0049 a0027c0050 a0028c0065 a0029c0058 a0036c0128 a0038c0145 a0039c0116 a0045c0141 a0047c0089 a0049c0076 a0051c0085 a0053c0070 a0056c0180 a0059c0174	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(110): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0023 a0001c0002t0027 a0001c0002t0036 a0001c0010t0004 a0001c0016t0001 a0001c0016t0003 a0001c0016t0012 a0001c0022t0001 a0001c0022t0002 a0001c0046t0003 a0001c0111t0002 a0001c0124t0006 a0001c0126t0001 a0001c0132t0002 a0001c0143t0003 a0001c0166t0008 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0008t0002 a0002c0008t0003 a0002c0008t0009 a0002c0018t0001 a0002c0018t0003 a0002c0018t0004 a0002c0038t0007 a0002c0041t0004 a0002c0044t0007 a0002c0103t0002 a0002c0104t0015 a0002c0127t0007 a0002c0146t0001 a0002c0151t0004 a0002c0167t0037 a0003c0005t0003 a0003c0014t0003 a0003c0014t0004 a0003c0015t0039 a0003c0019t0002 a0003c0019t0003 a0003c0021t0001 a0003c0021t0002 a0003c0035t0002 a0003c0035t0004 a0003c0072t0001 a0003c0094t0002 a0004c0020t0003 a0004c0020t0004 a0004c0034t0002 a0004c0073t0004 a0004c0075t0009 a0004c0087t0003 a0004c0090t0001 a0004c0093t0007 a0004c0097t0002 a0005c0028t0002 a0005c0061t0002 a0005c0062t0002 a0005c0066t0001 a0006c0004t0005 a0006c0004t0010 a0006c0004t0034 a0006c0009t0005 a0006c0009t0010 a0006c0009t0038 a0006c0037t0005 a0007c0011t0005 a0007c0011t0010 a0007c0086t0005 a0008c0007t0003 a0008c0007t0008 a0008c0029t0001 a0008c0029t0017 a0008c0059t0007 a0008c0067t0001 a0010c0025t0003 a0010c0025t0028 a0010c0184t0004 a0011c0144t0005 a0012c0158t0002 a0013c0047t0004 a0013c0153t0004 a0013c0160t0020 a0014c0036t0006 a0014c0168t0002 a0016c0023t0001 a0016c0023t0004 a0016c0179t0004 a0017c0024t0003 a0018c0052t0030 a0021c0163t0029 a0022c0105t0024 a0022c0147t0001 a0026c0049t0004 a0027c0050t0005 a0028c0065t0006 a0029c0058t0006 a0036c0128t0013 a0038c0145t0006 a0039c0116t0004 a0045c0141t0002 a0047c0089t0003 a0049c0076t0004 a0051c0085t0001 a0053c0070t0009 a0056c0180t0001 a0059c0174t0002	a0001c0002t0001g0121 a0001c0002t0002g0001 a0001c0002t0002g0052 others(138): Show a0001c0002t0001g0121 a0001c0002t0002g0001 a0001c0002t0002g0052 a0001c0002t0012g0119 a0001c0002t0023g0043 a0001c0002t0027g0127 a0001c0002t0036g0196 a0001c0010t0004g0116 a0001c0016t0001g0205 a0001c0016t0001g0247 a0001c0016t0003g0097 a0001c0016t0012g0145 a0001c0022t0001g0090 a0001c0022t0002g0118 a0001c0046t0003g0220 a0001c0046t0003g0242 a0001c0111t0002g0214 a0001c0124t0006g0218 a0001c0126t0001g0117 a0001c0132t0002g0141 a0001c0143t0003g0087 a0001c0166t0008g0159 a0002c0001t0001g0082 a0002c0001t0001g0125 a0002c0001t0003g0102 a0002c0001t0003g0114 a0002c0001t0003g0138 a0002c0001t0003g0303 a0002c0001t0004g0095 a0002c0001t0004g0104 a0002c0001t0004g0298 a0002c0001t0004g0300 a0002c0001t0004g0301 a0002c0006t0002g0040 a0002c0006t0003g0289 a0002c0006t0003g0290 a0002c0006t0004g0078 a0002c0006t0004g0084 a0002c0006t0004g0098 a0002c0008t0002g0109 a0002c0008t0002g0129 a0002c0008t0003g0157 a0002c0008t0009g0182 a0002c0018t0001g0032 a0002c0018t0003g0048 a0002c0018t0004g0094 a0002c0038t0007g0075 a0002c0038t0007g0143 a0002c0041t0004g0088 a0002c0041t0004g0154 a0002c0044t0007g0103 a0002c0044t0007g0135 a0002c0103t0002g0204 a0002c0104t0015g0206 a0002c0127t0007g0054 a0002c0146t0001g0130 a0002c0151t0004g0251 a0002c0167t0037g0158 a0003c0005t0003g0228 a0003c0005t0003g0270 a0003c0014t0003g0195 a0003c0014t0004g0264 a0003c0015t0039g0222 a0003c0019t0002g0295 a0003c0019t0003g0254 a0003c0019t0003g0257 a0003c0021t0001g0002 a0003c0021t0002g0229 a0003c0035t0002g0233 a0003c0035t0004g0237 a0003c0072t0001g0283 a0003c0094t0002g0230 a0004c0020t0003g0256 a0004c0020t0003g0273 a0004c0020t0004g0003 a0004c0034t0002g0258 a0004c0073t0004g0003 a0004c0075t0009g0217 a0004c0087t0003g0272 a0004c0090t0001g0239 a0004c0093t0007g0293 a0004c0097t0002g0294 a0005c0028t0002g0305 a0005c0061t0002g0065 a0005c0062t0002g0018 a0005c0066t0001g0023 a0006c0004t0005g0085 a0006c0004t0005g0108 a0006c0004t0005g0112 a0006c0004t0005g0113 a0006c0004t0005g0134 a0006c0004t0010g0076 a0006c0004t0034g0049 a0006c0009t0005g0100 a0006c0009t0010g0302 a0006c0009t0038g0083 a0006c0037t0005g0086 a0007c0011t0005g0261 a0007c0011t0005g0263 a0007c0011t0010g0296 a0007c0086t0005g0259 a0008c0007t0003g0067 a0008c0007t0008g0011 a0008c0029t0001g0068 a0008c0029t0017g0148 a0008c0059t0007g0022 a0008c0067t0001g0238 a0010c0025t0003g0184 a0010c0025t0028g0163 a0010c0184t0004g0185 a0011c0144t0005g0110 a0012c0158t0002g0223 a0013c0047t0004g0187 a0013c0153t0004g0165 a0013c0160t0020g0169 a0014c0036t0006g0060 a0014c0036t0006g0215 a0014c0168t0002g0160 a0016c0023t0001g0177 a0016c0023t0004g0164 a0016c0179t0004g0072 a0017c0024t0003g0174 a0017c0024t0003g0186 a0018c0052t0030g0028 a0021c0163t0029g0010 a0022c0105t0024g0079 a0022c0147t0001g0244 a0026c0049t0004g0192 a0027c0050t0005g0193 a0028c0065t0006g0012 a0029c0058t0006g0039 a0036c0128t0013g0126 a0038c0145t0006g0156 a0039c0116t0004g0124 a0045c0141t0002g0151 a0047c0089t0003g0284 a0049c0076t0004g0279 a0051c0085t0001g0268 a0053c0070t0009g0092 a0056c0180t0001g0180 a0059c0174t0002g0005	143	308	0.4643	306	c.371 others(325): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(299): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGT GGTGGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19043.hp1 NA19064.hp1 others(2): Show HG01109.hp1 NA19043.hp1 NA19064.hp1 NA19240.hp1 NA20129.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0014	a0001c0135 a0005c0030 a0009c0039 others(2): Show a0001c0135 a0005c0030 a0009c0039 a0009c0140 a0014c0123	a0001c0135t0001 a0005c0030t0003 a0009c0039t0008 others(2): Show a0001c0135t0001 a0005c0030t0003 a0009c0039t0008 a0009c0140t0019 a0014c0123t0001	a0001c0135t0001g0099 a0005c0030t0003g0025 a0009c0039t0008g0055 others(2): Show a0001c0135t0001g0099 a0005c0030t0003g0025 a0009c0039t0008g0055 a0009c0140t0019g0209 a0014c0123t0001g0026	5	308	0.0162	306	c.371 others(325): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCAGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(299): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGT GGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0003 a0003c0015t0003	a0003c0015t0003g0275 a0003c0015t0003g0275	1	308	0.0033	306	c.371 others(325): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(299): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18944.hp1 NA18951.hp2 HG03139.hp1 NA18944.hp1 NA18951.hp2	a0002 a0007 a0002 a0007	a0002c0121 a0007c0012 a0002c0121 a0007c0012	a0002c0121t0015 a0007c0012t0005 a0002c0121t0015 a0007c0012t0005	a0002c0121t0015g0197 a0007c0012t0005g0266 a0007c0012t0005g0267 a0002c0121t0015g0197 a0007c0012t0005g0266 a0007c0012t0005g0267	3	308	0.0097	306	c.371 others(325): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A4_chr2_226997714_227169205	227055348	T T	TAAAAAAA others(299): Show TAAAAAAAAAAAAAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp1 NA18906.hp1 others(1): Show HG02451.hp1 HG02818.hp1 NA18906.hp1 NA21309.hp1	a0020 a0035 a0036 a0020 a0035 a0036	a0020c0041 a0020c0054 a0035c0037 others(1): Show a0020c0041 a0020c0054 a0035c0037 a0036c0055	a0020c0041t0010 a0020c0054t0010 a0035c0037t0016 others(1): Show a0020c0041t0010 a0020c0054t0010 a0035c0037t0016 a0036c0055t0029	a0020c0041t0010g0028 a0020c0054t0010g0020 a0035c0037t0016g0003 others(1): Show a0020c0041t0010g0028 a0020c0054t0010g0020 a0035c0037t0016g0003 a0036c0055t0029g0174	4	284	0.0141	306	c.271 others(323): Show c.2716+596_2716+597insTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTG CCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAATTTTTTTTTTTTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	30/47			chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(299): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCC CTCTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	350	0.0029	306	c.510 others(325): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTC TCTCCCTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(299): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATATATATATATATTTCTATATATATATATAT ATATATTTCTATATATATATATATATATATTTCTATATATATATATATAT ATTTCTATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATATATTTCTATATATATAT ATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	370	0.0027	306	c.56 others(317): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATATTTCTATA TATATATATATATATATATTTCTATATATATATATATATATATATATTTC TATATATATATATATATATATTTCTATATATATATATATATATATTTCTA TATATATATATATATATTTCTATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATATA TTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRTC3_chr15_90524923_90650345	90647248	A A	ATCCCTCC others(299): Show ATCCCTCCCCTTTCACACCCCTCCTCAACTTCCACACCCCTCCCCCTCCT CACCCCTCCCACTTCAACTCTCCTCCTCACCCCTCCTCCTCTGCCACACC CCTACTCCTCCTCACCCATCATCCTCCACGCCCCTTCTATTCCACCACTC CCCCCTCCTCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCTCCACAC CCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAACCTTCAC ATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCTCATC ACCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	276	0.0036	306	c.51 others(317): Show c.5108_*5109insTCCCTCCCCTTTCACACCCCTCCTCAACTTCCAC ACCCCTCCCCCTCCTCACCCCTCCCACTTCAACTCTCCTCCTCACCCCTC CTCCTCTGCCACACCCCTACTCCTCCTCACCCATCATCCTCCACGCCCCT TCTATTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCTTCCACCAG ACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACAC CTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCAC CCCTCTCCCCTCATCACCTCTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1904		chr15	TogoVar
CSRNP3_chr2_165464698_165694407	165674048	T T	TAAAAATA others(299): Show TAAAAATAAATCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCA GGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTG GGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0088 a0001c0004t0088	a0001c0004t0088g0087 a0001c0004t0088g0087	1	246	0.0041	306	c.409 others(323): Show c.409-2253_409-2252insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCA CTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATAAATC	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CXCL6_chr4_73831678_73843760	73842184	T T	TAATTATA others(299): Show TAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTTTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 NA19086.hp1 HG02735.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	444	0.0045	306	c.45 others(317): Show c.4543_*4544insAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTG	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		3425		chr4	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(299): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	320	0.0031	306	c.546 others(323): Show c.546+3884_546+3885insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(299): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG02040.hp1 others(5): Show HG00597.hp1 HG00597.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 NA18950.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0235 a0003c0003t0001g0276	8	320	0.0250	306	c.546 others(323): Show c.546+3884_546+3885insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DEAF1_chr11_639233_700222	665147	G G	GTCCTGGC others(299): Show GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCG GTCACTC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18906.hp1 NA18612.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0280 a0001c0001t0001g0129 a0001c0001t0001g0280	2	345	0.0058	306	c.150 others(325): Show c.1503+9388_1503+9389insGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEPDC1B_chr5_60591912_60705166	60668233	T T	TTATATAT others(299): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATAAAATGGATATTTTATATATATATAAAATGGATA TTTTATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATT TTATATATATATATAAAATGGATATTATATATATATATATATAAAATGGA TATTATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	292	0.0034	306	c.314 others(325): Show c.314+18728_314+18729insTATAATATCCATTTTATATATATATA TATATAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATAAAATATCCATTTTATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATAAAATATCCATTTTATATATATA TAAAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKD_chr2_233349494_233477098	233463507	G G	GCACGCAT others(299): Show GCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCC TCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTC CTCACTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03579.hp2 NA18945.hp2 others(1): Show HG00741.hp1 HG03579.hp2 NA18945.hp2 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0090 a0001c0002t0004g0244 a0001c0002t0012g0043 others(1): Show a0001c0002t0004g0090 a0001c0002t0004g0244 a0001c0002t0012g0043 a0001c0002t0012g0113	4	336	0.0119	306	c.318 others(323): Show c.3187-650_3187-649insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463507	G G	GCACGCAT others(299): Show GCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCC TCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTC CTCACTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0098 a0001c0002t0004g0098	1	336	0.0030	306	c.318 others(323): Show c.3187-650_3187-649insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATGTCCTCACTGCACGCATGTCCTCACT GCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463507	G G	GCACGCAT others(299): Show GCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTGCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCC TCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTC CTCACTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0004 a0006c0015t0004	a0006c0015t0004g0118 a0006c0015t0004g0118	1	336	0.0030	306	c.318 others(323): Show c.3187-650_3187-649insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTGCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP1_chr18_3491032_4460307	4355867	C C	CTCTTCTG others(299): Show CTCTTCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG03669.hp2 others(2): Show HG00639.hp1 HG01106.hp2 HG03669.hp2 HG04184.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0003t0011 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0011 a0001c0005t0006	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0007g0028 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0007g0028 a0001c0003t0011g0010 a0001c0005t0006g0030	5	80	0.0625	306	c.-26 others(327): Show c.-267+99138_-267+99139insCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC AGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGCAGAAGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DMD_chrX_31114222_33216549	31257188	T T	TAGAAGTG others(299): Show TAGAAGTGGGCGTCTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01255.hp1 HG00621.hp1 HG01255.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0002c0012t0002 a0001c0001t0001 a0002c0012t0002	a0001c0001t0001g0062 a0002c0012t0002g0122 a0001c0001t0001g0062 a0002c0012t0002g0122	2	126	0.0159	306	c.928 others(325): Show c.9286+3766_9286+3767insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCGAGACGCCCACTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	63/78			chrX	TogoVar
DNAH10_chr12_123757301_123940714	123911595	G G	GGGGGAGT others(299): Show GGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGG GGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCT GTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTG GGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGG AGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGT CTGTCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0068 a0068	a0068c0082 a0068c0082	a0068c0082t0001 a0068c0082t0001	a0068c0082t0001g0009 a0068c0082t0001g0009	1	170	0.0059	306	c.101 others(325): Show c.10134+927_10134+928insAGTCTGTCCTGGGGGGGTCTGTCCTG GGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGG GGTCTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGTTTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTC CTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGTCTGTCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57355484	C C	CCTAAATT others(299): Show CCTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0061 a0061	a0061c0054 a0061c0054	a0061c0054t0001 a0061c0054t0001	a0061c0054t0001g0265 a0061c0054t0001g0265	1	266	0.0038	306	c.953 others(325): Show c.9533+1691_9533+1692insTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGC TAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAATTTAG	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	59/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390422	A A	AATATATA others(299): Show AATATATATATATATATATATATATACACATACATATACATATATACACA TACATATACATATATACACATACATATACATATATACACATACATATATA TATACATATATATATACATATATATATACGTATATATATATACGTGTATA TATATATACATATATATATATACGTGTGTATATATATACACATATATATA TACACGTATATATATACACATATATATATATACACATATATATATATACA CACATATATATATATACACATATATATATATACACATATATATATATACA CATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	266	0.0038	306	c.730 others(325): Show c.7305+1449_7305+1450insATATATGTGTATATATATATATGTGT ATATATATATATGTGTATATATATATATGTGTGTATATATATATATGTGT ATATATATATATGTGTATATATATACGTGTATATATATATGTGTATATAT ATACACACGTATATATATATATGTATATATATATACACGTATATATATAT ACGTATATATATATGTATATATATATGTATATATATATGTATGTGTATAT ATGTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGT ATGTGTATATATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TATATACA others(299): Show TATATACACATACATATACATATATACACATACATATACATATATACACA TACATATACATATATACACATACATATATATATACATATATATACATATA TATATACGTATATATATATACGTGTATATATACACACGTATATATATATA CGTGTGTATATATACACATATATATATACACATATATATATATACACATA TATATATACACATATATATATATACACATATATATATATACACATATATA TATACACACATATATATATATATATATATATATATATACATATATATATA TATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0052 a0052	a0052c0091 a0052c0091	a0052c0091t0001 a0052c0091t0001	a0052c0091t0001g0230 a0052c0091t0001g0230	1	266	0.0038	306	c.730 others(325): Show c.7305+1421_7305+1422insGTATATATATATATATATGTATATAT ATATATATATATATATATATATGTGTGTATATATATATGTGTATATATAT ATATGTGTATATATATATATGTGTATATATATATGTGTATATATATATAT GTGTATATATATATGTGTATATATACACACGTATATATATATACGTGTGT ATATATACACGTATATATATATACGTATATATATATGTATATATATGTAT ATATATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGT ATGTGTATATATGTATATGTATGTGTATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAJC4_chr11_64225548_64239281	64237115	G G	GAGGGGGA others(299): Show GAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACAGA GACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	306	c.29 others(317): Show c.2931_*2932insAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAG ACAGAGACAGACAGAGACAGAC	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2835		chr11	TogoVar
DOCK1_chr10_126900428_127457516	126947680	A A	ATGGTGGT others(299): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTA GTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAG TATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTG GTGGTGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0034 a0001c0030t0001g0034	1	136	0.0074	306	c.47- others(323): Show c.47-23015_47-23014insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAG TATTACTGTTGGTGGTGGTGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947779	A A	ATGGTGGT others(299): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0022 a0001c0005t0001g0022	1	136	0.0074	306	c.47- others(323): Show c.47-22890_47-22889insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTG GTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400605	C C	CCACCACC others(299): Show CCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCAGCATCTTCACCAACACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCT CCACCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0002 a0002c0097t0002	a0002c0097t0002g0121 a0002c0097t0002g0121	1	256	0.0039	306	c.323 others(325): Show c.3234+1353_3234+1354insTCCACCACCACCACCACCTCCACCAT CACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCAAC ACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACC ATCACCACCACCACCTCCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400785	C C	CCACCATC others(299): Show CCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCACCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCACCTCCACCACCACCA GCATCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0119	1	256	0.0039	306	c.323 others(325): Show c.3234+1537_3234+1538insTCACCACCACCTCCACCATCACCACC TCCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCATCACCACCACCACCTCCACCACCATCACCACCACCT CCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCACCACCAGC ATCTTCACCATCACCACCACCTCCACCACCACCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCACCT CCACCACCACCAGCATCTTCACCATCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCTTCCT others(299): Show CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	250	0.0040	306	c.105 others(323): Show c.105-1248_105-1247insTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556316	A A	AGTATATA others(299): Show AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATA TAGTGTATATATATAGTATATATATAGTGTATATAGTATATATATAGTAT ATATATAGTGTATATAGTATATATATAGTATATATATAGTATATATAGTA TATATATGTATATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0186 a0001c0002t0006g0186	1	316	0.0032	306	c.355 others(325): Show c.355-25653_355-25652insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATAG TGTATATAGTATATATATAGTATATATATAGTGTATATAGTATATATATA GTATATATATAGTATATATAGTATATATATGTATATATATATAGTATATA TATAGTATATATATATAGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716202	T T	TGGGGGAG others(299): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCATGGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0126 a0002c0010t0001g0126	1	170	0.0059	306	c.86- others(319): Show c.86-390_86-389insGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29329198	T T	TAAAAAAT others(299): Show TAAAAAATACAAAAAATTCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19030.hp2 HG06807.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0031 a0002c0004 a0002c0031	a0002c0004t0003 a0002c0031t0040 a0002c0004t0003 a0002c0031t0040	a0002c0004t0003g0111 a0002c0031t0040g0080 a0002c0004t0003g0111 a0002c0031t0040g0080	2	125	0.0160	306	c.276 others(325): Show c.276+52576_276+52577insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGAATTTTTTGTATTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(299): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03831.hp1 HG03669.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0001g0073 a0001c0001t0001g0090	2	428	0.0047	306	c.83+ others(319): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX1_chr1_225805124_225850563	225821570	T T	TTTTTTTT others(299): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	422	0.0024	306	c.-5- others(321): Show c.-5-7136_-5-7135insTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCTTTTTTTTTTTTTTTTTTT	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERBIN_chr5_65921575_66087546	66018532	T T	TAATATAT others(299): Show TAATATATATTATATTATATAATATATATTATATATTATAATATATAATA TATATTATATAATATATATTATATATTATATATTATATATTATATAATAT ATATTATATATTATATAATATATATTATATATTATATAATATATAATATA TATTATATATTATATATTATATAATATATAATATATATTATATAATATAT AATATATATTATATATTATATAATATATAATATATATTATATATTATATA ATATATATTATATATTATATATTATATAATATATATTATATATTATATAA TATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	306	0.0033	306	c.534 others(323): Show c.534-2790_534-2789insAATATATATTATATTATATAATATATAT TATATATTATAATATATAATATATATTATATAATATATATTATATATTAT ATATTATATATTATATAATATATATTATATATTATATAATATATATTATA TATTATATAATATATAATATATATTATATATTATATATTATATAATATAT AATATATATTATATAATATATAATATATATTATATATTATATAATATATA ATATATATTATATATTATATAATATATATTATATATTATATATTATATAA TATATATTATATATTATATAATATATAA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(299): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	372	0.0027	306	c.63+ others(321): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATATATATATACATATATATATACACATATATA TATACATATATATATACACATATATATATACATATATATATACACATATA TATATACATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM83B_chr6_54841771_54950099	54907604	T T	TTTTTTTT others(299): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18965.hp2 HG00544.hp1 NA18965.hp2	a0001 a0001	a0001c0008 a0001c0013 a0001c0008 a0001c0013	a0001c0008t0005 a0001c0013t0005 a0001c0008t0005 a0001c0013t0005	a0001c0008t0005g0015 a0001c0013t0005g0270 a0001c0008t0005g0015 a0001c0013t0005g0270	2	272	0.0074	306	c.445 others(325): Show c.445-18764_445-18763insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCTTT	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAT3_chr11_92219818_92901473	92843046	T T	TAAAAATA others(299): Show TAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0029 a0029	a0029c0055 a0029c0055	a0029c0055t0075 a0029c0055t0075	a0029c0055t0075g0023 a0029c0055t0075g0023	1	118	0.0085	306	c.105 others(325): Show c.10567-879_10567-878insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAATACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBXL16_chr16_687500_710801	707613	C C	CCCACCTC others(299): Show CCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCA GCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCTGC CCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCAC CAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCT GCCCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTC ACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCAC CTGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	372	0.0027	306	c.-21 others(317): Show c.-2117_-2116insAGGGCAGGTGGGTCACAGCTGGTGACAGAGGTGG AGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTCAC AGCTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGCTGGTGACAGAGGT GGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTC ACAGCTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGCTGGTGACAGAG GTGGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGG TCACAGCTGGTGACAGAGGTGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1813		chr16	TogoVar
FBXL16_chr16_687500_710801	707624	C C	CACCAGCT others(299): Show CACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCA CCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCTGCCCTCCACCTCT GTCACCAGCTGTGACCCACCTACCCCCCACCTCTGTCACCAGCTGTGACC CACCTGCCCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCCCCACCT CTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGA CCCACCTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTGCCCTCCAC CTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	372	0.0027	306	c.-21 others(317): Show c.-2128_-2127insCACAGAGGTGGAGGGCAGGTGGGTCACAGCTGGT GACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGT AGGTGGGTCACAGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTG GTGACAGAGGTGGAGGGCAGGTGGGTCACAGCTGGTGACAGAGGTGGGGG GTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGC TGGTGACAGAGGTGGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGA GGGTAGGTGGGTCACAGCTGGT	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1824		chr16	TogoVar
FBXL18_chr7_5470797_5518809	5512297	T T	TAAAAAAA others(299): Show TAAAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0135 a0001c0001t0008g0135	1	338	0.0030	306	c.18+ others(321): Show c.18+1359_18+1360insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCTTTTTTTTTTTTTTTTT	FBXL18	ENSG00000155034.21	transcript	ENST00000382368.8	protein_coding	1/4			chr7	TogoVar
FCHO2_chr5_72951041_73095522	73037315	C C	CAAAAGTA others(299): Show CAAAAGTATATGTGTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18992.hp2 HG02080.hp1 NA18992.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0263 a0001c0004t0003g0270 a0001c0004t0003g0263 a0001c0004t0003g0270	2	286	0.0070	306	c.914 others(321): Show c.914+114_914+115insCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGTATATGTGT	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)