Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
WDR27_chr6_169452212_169707029	169664850	AGCACGGG others(117): Show AGCACGGGGGATGCCACACAGGAGCCGTCCAGGGCGCCTCTCCGGGGCGC GGGCAGCGTGCGGGCACGGGGGATGCCACACAGGAGCCGTCCAGGGCGCC TCTCCGGGGCGCGGGCAGCGTGCGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01257.hp2 others(28): Show HG00642.hp2 HG01109.hp2 HG01257.hp2 HG02083.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03710.hp1 NA18612.hp1 NA18950.hp2 NA19030.hp1 NA19043.hp1 NA19063.hp2 NA19074.hp2 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0009 a0014 a0022 a0027 a0029 a0032	a0001c0001 a0002c0003 a0002c0026 others(10): Show a0001c0001 a0002c0003 a0002c0026 a0003c0002 a0004c0006 a0004c0007 a0005c0004 a0009c0013 a0014c0023 a0022c0018 a0027c0050 a0029c0031 a0032c0039	a0001c0001t0001 a0002c0003t0002 a0002c0003t0018 others(12): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0018 a0002c0026t0003 a0003c0002t0003 a0003c0002t0005 a0004c0006t0006 a0004c0007t0007 a0005c0004t0002 a0009c0013t0005 a0014c0023t0007 a0022c0018t0001 a0027c0050t0002 a0029c0031t0017 a0032c0039t0005	a0001c0001t0001g0138 a0001c0001t0001g0179 a0002c0003t0002g0043 others(28): Show a0001c0001t0001g0138 a0001c0001t0001g0179 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0056 a0002c0003t0002g0058 a0002c0003t0018g0055 a0002c0026t0003g0249 a0003c0002t0003g0208 a0003c0002t0003g0212 a0003c0002t0003g0213 a0003c0002t0003g0227 a0003c0002t0003g0230 a0003c0002t0005g0059 a0004c0006t0006g0253 a0004c0007t0007g0251 a0005c0004t0002g0091 a0009c0013t0005g0057 a0014c0023t0007g0247 a0014c0023t0007g0248 a0022c0018t0001g0123 a0022c0018t0001g0124 a0027c0050t0002g0050 a0029c0031t0017g0076 a0032c0039t0005g0092	31	80	0.3875	-124	c.783 others(15): Show c.783+512_784-565del	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	7/25			chr6	TogoVar
WDR4_chr21_42844226_42884539	42848734	GCGCGCAC others(117): Show GCGCGCACCTCACACAGCACACGATCACGCGGCGCGCACCTCACACAGCA CACGATCACGCGGCGCGCACCTCACACAGCACACGATCACGCGGCGCGCA CCTCACTCACAGCACACGATCACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00639.hp2 others(29): Show HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01496.hp1 HG01981.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02683.hp2 HG03490.hp1 HG03669.hp1 HG03834.hp1 NA18941.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18973.hp2 NA18980.hp1 NA18985.hp1 NA18994.hp2 NA19004.hp2 NA19011.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0006 a0002c0002t0005 a0002c0002t0006	a0002c0002t0005g0018 a0002c0002t0005g0031 a0002c0002t0005g0249 others(20): Show a0002c0002t0005g0018 a0002c0002t0005g0031 a0002c0002t0005g0249 a0002c0002t0005g0250 a0002c0002t0005g0251 a0002c0002t0005g0253 a0002c0002t0005g0254 a0002c0002t0005g0255 a0002c0002t0005g0257 a0002c0002t0005g0258 a0002c0002t0005g0259 a0002c0002t0005g0260 a0002c0002t0005g0261 a0002c0002t0005g0263 a0002c0002t0006g0010 a0002c0002t0006g0019 a0002c0002t0006g0028 a0002c0002t0006g0242 a0002c0002t0006g0243 a0002c0002t0006g0244 a0002c0002t0006g0248 a0002c0002t0006g0252 a0002c0002t0006g0256	32	398	0.0804	-124	c.11 others(11): Show c.1191_*1314del	WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding		491		chr21	TogoVar
WFDC3_chr20_45769213_45796883	45773832	AAAGAAGG others(117): Show AAAGAAGGTCAGCAGGTCTAAAAGAGACTGACCTCCACCCCCACCAGGGC TTGAGAAAGACATCTATGGCAAGTCACTCTCAGTTTAGTTTCCACCCTCA ACCCACATTCTCCAATAAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18994.hp2 NA18983.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0080 a0001c0001t0001g0092	2	408	0.0049	-124	c.47 others(9): Show c.472_*595del	WFDC3	ENSG00000124116.19	transcript	ENST00000243938.9	protein_coding		380		chr20	TogoVar
ZDHHC4_chr7_6572454_6594374	6577111	CATAAAAT others(117): Show CATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATA AATAAAATAAAATAAATAAAATAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00741.hp1 others(37): Show HG00323.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02155.hp2 HG02293.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG03139.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG04115.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18985.hp2 NA19000.hp1 NA19007.hp1 NA19089.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0064 a0002c0002t0001g0001 a0002c0002t0001g0022 a0002c0002t0001g0071 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0089 a0002c0002t0001g0090 a0003c0003t0001g0023	40	172	0.2326	-124	c.-54 others(9): Show c.-549_-426del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		342		chr7	TogoVar
ZIM3_chr19_57129096_57150202	57137898	GGAAAGAA others(117): Show GGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02970.hp1 others(2): Show HG02572.hp2 HG02895.hp2 HG02970.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0025 a0001c0010t0008g0128 a0001c0010t0008g0132 a0001c0010t0008g0025 a0001c0010t0008g0128 a0001c0010t0008g0132	5	416	0.0120	-124	c.142 others(15): Show c.142+450_142+573del	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding	3/4			chr19	TogoVar
ZNF135_chr19_58054282_58074755	58056567	CGCTCCAC others(117): Show CGCTCCACCTTGGCTGACGGAAGCAAGGACGTGGCCCAGGATCCTGGAGG GCCACTCCTGTGTGCGCCACCTTGGCTGACAGAAGCAAGGACGTGGCCCA GGGTCCTGGAGGGCCACTCTTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(176): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18992.hp2 NA18994.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0009 a0015	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0002c0003 a0003c0022 a0005c0030 a0005c0031 a0007c0019 a0009c0012 a0015c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0003 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0005t0002 a0001c0007t0001 a0001c0009t0012 a0002c0003t0002 a0003c0022t0002 a0005c0030t0002 a0005c0031t0001 a0007c0019t0007 a0009c0012t0005 a0015c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0010 a0001c0001t0005g0095 a0001c0001t0007g0001 a0001c0001t0007g0041 a0001c0001t0008g0005 a0001c0001t0013g0105 a0001c0001t0015g0001 a0001c0001t0016g0092 a0001c0001t0017g0099 a0001c0002t0002g0043 a0001c0002t0003g0012 a0001c0002t0003g0094 a0001c0002t0003g0109 a0001c0004t0002g0008 a0001c0004t0002g0040 a0001c0004t0002g0058 a0001c0004t0002g0060 a0001c0004t0002g0061 a0001c0004t0002g0062 a0001c0004t0002g0098 a0001c0004t0002g0106 a0001c0004t0003g0103 a0001c0004t0003g0104 a0001c0004t0006g0017 a0001c0004t0006g0040 a0001c0004t0006g0063 a0001c0004t0006g0064 a0001c0004t0006g0065 a0001c0005t0002g0014 a0001c0005t0002g0054 a0001c0007t0001g0001 a0001c0007t0001g0107 a0001c0009t0012g0032 a0002c0003t0002g0002 a0003c0022t0002g0100 a0005c0030t0002g0102 a0005c0031t0001g0001 a0007c0019t0007g0001 a0009c0012t0005g0001 a0015c0024t0001g0001	179	432	0.4144	-124	c.-27 others(11): Show c.-2777_-2654del	ZNF135	ENSG00000176293.20	transcript	ENST00000313434.10	protein_coding		2714		chr19	TogoVar
ZNF135_chr19_58054282_58074755	58056624	CTGTGTGC others(117): Show CTGTGTGCGCCACCTTGGCTGACAGAAGCAAGGACGTGGCCCAGGGTCCT GGAGGGCCACTCTTGTGTGCTCCACCTTGGCTGACGGAAGCAAGGACGTG GCCCAGGATCCTGGAGGGCCACTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02109.hp2 HG02258.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0011 a0004c0010t0011	a0004c0010t0011g0047 a0004c0010t0011g0048 a0004c0010t0011g0047 a0004c0010t0011g0048	2	432	0.0046	-124	c.-27 others(11): Show c.-2720_-2597del	ZNF135	ENSG00000176293.20	transcript	ENST00000313434.10	protein_coding		2657		chr19	TogoVar
ZNF135_chr19_58054282_58074755	58056632	GCCACCTT others(117): Show GCCACCTTGGCTGACAGAAGCAAGGACGTGGCCCAGGGTCCTGGAGGGCC ACTCTTGTGTGCTCCACCTTGGCTGACGGAAGCAAGGACGTGGCCCAGGA TCCTGGAGGGCCACTCTTGTGTGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG02647.hp2 HG03486.hp1	a0001 a0018 a0001 a0018	a0001c0004 a0018c0025 a0001c0004 a0018c0025	a0001c0004t0002 a0018c0025t0002 a0001c0004t0002 a0018c0025t0002	a0001c0004t0002g0057 a0018c0025t0002g0090 a0001c0004t0002g0057 a0018c0025t0002g0090	2	432	0.0046	-124	c.-27 others(11): Show c.-2712_-2589del	ZNF135	ENSG00000176293.20	transcript	ENST00000313434.10	protein_coding		2649		chr19	TogoVar
ZNF28_chr19_52792408_52826633	52825923	GTCTGCAG others(117): Show GTCTGCAGTGAGGCAAGATTGCGCCACTGCGCTCCAGTCTGGGTGACAGG CACATTCATCAAATAATTTTATCTAAAATCTCATAATGGTGTCTGAATAC ATTTCTGTAGGACTTACGCTGACTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	420	0.0024	-124	c.-45 others(11): Show c.-4535_-4412del	ZNF28	ENSG00000198538.11	transcript	ENST00000457749.7	protein_coding		4291		chr19	TogoVar
ZSCAN1_chr19_58029025_58059631	58056567	CGCTCCAC others(117): Show CGCTCCACCTTGGCTGACGGAAGCAAGGACGTGGCCCAGGATCCTGGAGG GCCACTCCTGTGTGCGCCACCTTGGCTGACAGAAGCAAGGACGTGGCCCA GGGTCCTGGAGGGCCACTCTTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(155): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18948.hp2 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18991.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0011 a0001c0004t0004 a0001c0011t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0004g0004 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0008g0127 a0001c0002t0002g0012 a0001c0002t0002g0069 a0001c0002t0004g0009 a0001c0002t0004g0025 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0052 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0003t0001g0001 a0001c0003t0001g0014 a0001c0003t0001g0109 a0001c0003t0011g0001 a0001c0004t0004g0144 a0001c0011t0004g0038	158	378	0.4180	-124	c.25 others(11): Show c.2517_*2640del	ZSCAN1	ENSG00000152467.10	transcript	ENST00000282326.6	protein_coding		1937		chr19	TogoVar
ZSCAN1_chr19_58029025_58059631	58056624	CTGTGTGC others(117): Show CTGTGTGCGCCACCTTGGCTGACAGAAGCAAGGACGTGGCCCAGGGTCCT GGAGGGCCACTCTTGTGTGCTCCACCTTGGCTGACGGAAGCAAGGACGTG GCCCAGGATCCTGGAGGGCCACTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02109.hp2 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0021 a0001c0002t0004g0021	2	378	0.0053	-124	c.25 others(11): Show c.2574_*2697del	ZSCAN1	ENSG00000152467.10	transcript	ENST00000282326.6	protein_coding		1994		chr19	TogoVar
ZSCAN1_chr19_58029025_58059631	58056632	GCCACCTT others(117): Show GCCACCTTGGCTGACAGAAGCAAGGACGTGGCCCAGGGTCCTGGAGGGCC ACTCTTGTGTGCTCCACCTTGGCTGACGGAAGCAAGGACGTGGCCCAGGA TCCTGGAGGGCCACTCTTGTGTGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG02647.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0073 a0001c0002t0004g0138 a0001c0002t0004g0073 a0001c0002t0004g0138	2	378	0.0053	-124	c.25 others(11): Show c.2582_*2705del	ZSCAN1	ENSG00000152467.10	transcript	ENST00000282326.6	protein_coding		2002		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38673601	ATATATTC others(116): Show ATATATTCATTTATATTTATATATATTCATATATATTTATATATATTTAT ATATTTATATATATTATATATATTTATATATTTATATATATTATATATAT TTATATATTTATATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0250 a0001c0005t0020g0250	1	311	0.0032	-123	c.162 others(19): Show c.162+25695_162+25817del	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1326879	ACAGCGCC others(116): Show ACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCA CTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCCCAGCGCCTC CCCACGGCCCAGCGCCTCCCCACT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03139.hp2 NA21309.hp1 HG02083.hp1 HG03139.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0011 a0001c0001 a0002c0002 a0011c0011	a0001c0001t0017 a0002c0002t0008 a0011c0011t0034 a0001c0001t0017 a0002c0002t0008 a0011c0011t0034	a0001c0001t0017g0030 a0002c0002t0008g0057 a0011c0011t0034g0077 a0001c0001t0017g0030 a0002c0002t0008g0057 a0011c0011t0034g0077	3	71	0.0423	-123	c.107 others(21): Show c.1077+36026_1077+36148del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1397226	CGTCTCTC others(116): Show CGTCTCTCCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATCAGCCTCTCC CCTCCCGAGTGCAGGCTTCCTGGGTCACCATCAGTCTCTCCCCTCCCGAG TGGAGGCTTCCTGGGTCACCATCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0067 a0002c0002t0048g0067	1	106	0.0094	-123	c.101 others(19): Show c.101-18189_101-18067del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142446327	TTCAGCGT others(116): Show TTCAGCGTGTGACCAAGCTCAGTGTACGACCAGGATCAGGGCTCAGCATG TGACTAAGCTCAGTGTGTGACCAGGATCAGGGCTCAGCGTGTGACCAAGC TCAGTGTGTGACCAGGATCAAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA19063.hp2 NA18973.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0033 a0001c0001t0002g0046	2	308	0.0065	-123	c.-39 others(11): Show c.-3996_-3874del	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding		3321		chr8	TogoVar
AGPAT2_chr9_136668143_136692457	136675321	GGGCCAGC others(116): Show GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTG GGGACTGGCAGCAGGAAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01123.hp1 others(15): Show HG01069.hp2 HG01106.hp1 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG02258.hp2 HG02602.hp1 HG02738.hp1 HG03017.hp1 HG03831.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0019 a0002c0002t0005 a0002c0002t0006 a0002c0007t0006	a0001c0001t0001g0023 a0001c0001t0005g0018 a0001c0001t0018g0188 others(9): Show a0001c0001t0001g0023 a0001c0001t0005g0018 a0001c0001t0018g0188 a0001c0001t0019g0094 a0002c0002t0005g0028 a0002c0002t0005g0070 a0002c0002t0006g0026 a0002c0002t0006g0057 a0002c0002t0006g0059 a0002c0002t0006g0062 a0002c0002t0006g0065 a0002c0007t0006g0066	18	345	0.0522	-123	c.589 others(15): Show c.589-637_589-515del	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675362	GGGCCAGC others(116): Show GGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTG GGGACTGGCAGCAGGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18967.hp2 HG03225.hp1 NA18967.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0015 a0001c0001t0004 a0003c0005t0015	a0001c0001t0004g0176 a0003c0005t0015g0053 a0001c0001t0004g0176 a0003c0005t0015g0053	2	372	0.0054	-123	c.589 others(15): Show c.589-678_589-556del	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AHRR_chr5_316714_443285	357650	CCCGCGAG others(116): Show CCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGAC TGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGG GCAGTCAGCGACTGAGGAAGAGCG	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0166 a0002c0002t0011g0166	1	266	0.0038	-123	c.244 others(17): Show c.244+3742_244+3864del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALAS1_chr3_52193160_52219327	52206873	TGCCCAGG others(116): Show TGCCCAGGCAGGAGTGCAGTGGTGCGATCTCGACTCACTGCAAGCTCCGC CTCCCGGGTTCACGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGACACCTGCCACCACGCCTG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	352	0.0028	-123	c.116 others(17): Show c.1165+125_1165+247del	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
ANKRD33B_chr5_10559070_10662816	10639162	GCGGGTGA others(116): Show GCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGC GCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTG ACGTGGAGTTGCGCGGCGATGTTA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0119 a0001c0001t0048g0119	1	322	0.0031	-123	c.637 others(16): Show c.637+995_637+1117del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3			chr5	TogoVar
ANKS1B_chr12_98738974_99989936	98782945	TGCAATGT others(116): Show TGCAATGTGTTGATTTTAAGGCAACGCGGTGGCTGAACTCTGTAAAGAGG GAGGGCTGGGGCAGCCCAGGCGATAGTTGGAATAACTGAATGCATATGTG AAAAATTTTCTGCAAAGCGTCACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	46	0.0217	-123	c.334 others(17): Show c.3343-931_3343-809del	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	22/26			chr12	TogoVar
ANXA2_chr15_60342151_60402986	60366816	GTCGGCCA others(116): Show GTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGACCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00642.hp1 others(27): Show HG00140.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01106.hp1 HG01192.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG02148.hp2 HG02572.hp2 HG02738.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18939.hp1 NA18945.hp2 NA18969.hp1 NA18977.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0038 others(27): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0001g0251 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0318 a0001c0003t0001g0094 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0133 a0002c0002t0001g0219 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298	30	297	0.1010	-123	c.149 others(17): Show c.149-2416_149-2294del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144556937	CAAAAGGC others(116): Show CAAAAGGCTGAACCTTCATAGTATTCAGTGGCAAAAGCCTGAACCTTCAT AGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGGCAAAGGCT GAACCTTCATAGTATTCAGCGGCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	232	0.0043	-123	c.513 others(17): Show c.513-1417_513-1295del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144634144	AGAACTCC others(116): Show AGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCA GGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGC AGGCGCAGTCTCCACTCCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02572.hp1 others(8): Show HG00408.hp1 HG00438.hp1 HG02572.hp1 HG02976.hp2 HG03195.hp1 HG03579.hp2 NA18990.hp2 NA19030.hp2 NA19056.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0014t0007	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0236 others(8): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0236 a0001c0001t0002g0136 a0001c0001t0002g0240 a0001c0001t0004g0239 a0001c0001t0007g0237 a0001c0001t0012g0036 a0001c0001t0014g0051 a0001c0002t0001g0049 a0001c0014t0007g0238	11	101	0.1089	-123	c.-81 others(19): Show c.-81-28572_-81-28450del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP8_chr22_44747575_44867784	44801017	GGGGGCCG others(116): Show GGGGGCCGCCTCTCCCCGCAGCTGTGTGGGGGCACCTCTCCCCGCAGCTG TCCATGTGTGAGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGCAC CTCTCCCCGCAGCTGTCCATGTGT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02135.hp1 HG03704.hp1 others(3): Show HG01168.hp1 HG02135.hp1 HG03704.hp1 HG06807.hp1 NA18960.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0003 a0002c0016 others(2): Show a0001c0001 a0002c0003 a0002c0016 a0003c0005 a0006c0033	a0001c0001t0003 a0002c0003t0004 a0002c0016t0004 others(2): Show a0001c0001t0003 a0002c0003t0004 a0002c0016t0004 a0003c0005t0002 a0006c0033t0005	a0001c0001t0003g0006 a0002c0003t0004g0054 a0002c0003t0004g0266 others(3): Show a0001c0001t0003g0006 a0002c0003t0004g0054 a0002c0003t0004g0266 a0002c0016t0004g0131 a0003c0005t0002g0215 a0006c0033t0005g0272	6	372	0.0161	-123	c.80- others(14): Show c.80-1055_80-933del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASAP1_chr8_130047104_130448674	130049434	GGGGGCAG others(116): Show GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02647.hp1 HG03041.hp1 HG00323.hp2 HG02647.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0197 a0001c0001t0001g0223 a0002c0002t0003g0118 a0001c0001t0001g0197 a0001c0001t0001g0223 a0002c0002t0003g0118	3	302	0.0099	-123	c.51 others(11): Show c.5174_*5296del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2669		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049443	GGGGAATA others(116): Show GGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACA CATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGG CAGAGGAGAACACATGGGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0242 a0002c0002t0019g0242	1	305	0.0033	-123	c.51 others(11): Show c.5165_*5287del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2660		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049653	AGAACACA others(116): Show AGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT GGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	205	0.0049	-123	c.49 others(11): Show c.4955_*5077del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2450		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112786049	GCACGTGC others(116): Show GCACGTGCCTGCGTTCAGACTCCATTTATCCTCACCGTCCTTCAAAATGG ATGAGCTAAACCCACGCACACGCGTGGACGGGCTGCACATGGGGTAAACT GTGCTTTCCAGGTAATGCGGAACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0002 a0008c0023t0002	a0008c0023t0002g0064 a0008c0023t0002g0064	1	252	0.0040	-123	c.162 others(15): Show c.162+804_162+926del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112786079	CTCACCGT others(116): Show CTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGCGTGGACG GGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACACACGTG CCTGCATTCATACTCCATTTATCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG03098.hp1 others(3): Show HG01109.hp1 HG02622.hp2 HG03098.hp1 HG03540.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0020 a0001c0002 a0001c0004 a0001c0020	a0001c0002t0001 a0001c0002t0013 a0001c0002t0034 others(2): Show a0001c0002t0001 a0001c0002t0013 a0001c0002t0034 a0001c0004t0052 a0001c0020t0070	a0001c0002t0001g0032 a0001c0002t0013g0113 a0001c0002t0013g0211 others(3): Show a0001c0002t0001g0032 a0001c0002t0013g0113 a0001c0002t0013g0211 a0001c0002t0034g0179 a0001c0004t0052g0033 a0001c0020t0070g0055	6	156	0.0385	-123	c.162 others(16): Show c.162+915_162+1037del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112786605	GGCACACG others(116): Show GGCACACGCGTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTA ATGCGGAACGCACGTGCCTGCATTCAGACTCCATTTATCTTCACCGTCCT TCAAAATGGATGAGCTAAACCCAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18522.hp2 HG01496.hp1 NA18522.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0043 a0001c0001 a0012c0043	a0001c0001t0001 a0012c0043t0001 a0001c0001t0001 a0012c0043t0001	a0001c0001t0001g0219 a0012c0043t0001g0143 a0001c0001t0001g0219 a0012c0043t0001g0143	2	243	0.0082	-123	c.162 others(17): Show c.162+1378_162+1500del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79246171	AGGAGGGC others(116): Show AGGAGGGCACCGCCCTACTGACTGTGCGGAGGGCACCACCCTACTGACTG AGGAGGGCACCACCCTGACTGTGTGGAGGGCACCACCCTACTGACTGCGG AGGGCACCGCCCTACTGTCTGTGC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0258 a0002c0002t0004g0258	1	261	0.0038	-123	c.110 others(19): Show c.1108-7186_1108-7064del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GALT1_chr2_167288001_167879045	167563533	GGGCTGAC others(116): Show GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGGCTGGCCGGGCAG AGGGGCTCCCCACTTCCCAGCAGGGGCGGCTGGGCAGAGGCCCCTCACCT CGGGACGGGGCGGCTGGCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0090 a0001c0001t0011g0090	1	116	0.0086	-123	c.-41 others(21): Show c.-410+73270_-410+73392del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82975060	CGACTCCA others(116): Show CGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCC GGGACAGAGCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGG AACGAGGGCCCCGGGACAGAGCCG	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0205 a0002c0010t0007g0205	1	245	0.0041	-123	c.460 others(17): Show c.460-9437_460-9315del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82975835	AACAGGGC others(116): Show AACAGGGCCCCAGGACAGAGCCCGACTCCATCCTCCCAGGGGCCGGAGGC CACTTATGGGGAACGAGGGCCCCGGGACAGAGCCAGACTCCATCCTCCCA GGGACCAGAGGCCACTATGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01257.hp2 others(13): Show HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG03041.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0003t0015 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0002c0010t0007	a0001c0001t0001g0172 a0001c0001t0002g0164 a0001c0001t0004g0251 others(12): Show a0001c0001t0001g0172 a0001c0001t0002g0164 a0001c0001t0004g0251 a0001c0001t0005g0255 a0001c0001t0014g0250 a0001c0001t0017g0160 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0003t0015g0194 a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146 a0002c0010t0007g0005 a0002c0010t0007g0217	16	263	0.0608	-123	c.460 others(19): Show c.460-10212_460-10090del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82976821	CAGGGCCC others(116): Show CAGGGCCCCGGGACAGAGCCGAACTCCATCCTCCCAGGGACCAGAGGCCA CTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGATTCCATCCTCCCAGGG GCTGGAGGCCACTTATGGGGAACG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(104): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18986.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0016 a0001c0020 a0001c0029 a0002c0005 a0002c0009 a0002c0010 a0002c0022 a0003c0021 a0003c0023 a0003c0025 a0005c0028 a0006c0026 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 a0001c0002t0002 a0001c0002t0008 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0020 a0001c0003t0021 a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 a0001c0007t0009 a0001c0012t0001 a0001c0016t0001 a0001c0020t0005 a0001c0029t0001 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0002c0010t0007 a0002c0022t0003 a0003c0021t0035 a0003c0023t0011 a0003c0025t0011 a0005c0028t0002 a0006c0026t0006 a0007c0018t0005	a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0165 others(104): Show a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0165 a0001c0001t0002g0065 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0006g0170 a0001c0001t0006g0178 a0001c0001t0006g0185 a0001c0001t0012g0158 a0001c0001t0015g0252 a0001c0001t0022g0233 a0001c0001t0036g0248 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0104 a0001c0002t0002g0109 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0008g0070 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0100 a0001c0002t0008g0107 a0001c0002t0008g0108 a0001c0002t0008g0112 a0001c0002t0008g0115 a0001c0002t0028g0124 a0001c0002t0029g0074 a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0003t0004g0197 a0001c0003t0004g0202 a0001c0003t0004g0219 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0021g0221 a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0002g0008 a0001c0006t0002g0026 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0008g0021 a0001c0007t0009g0254 a0001c0012t0001g0069 a0001c0016t0001g0009 a0001c0016t0001g0010 a0001c0020t0005g0220 a0001c0029t0001g0139 a0002c0005t0003g0053 a0002c0005t0003g0054 a0002c0005t0003g0056 a0002c0005t0003g0060 a0002c0005t0003g0061 a0002c0005t0003g0063 a0002c0005t0003g0064 a0002c0005t0003g0157 a0002c0005t0003g0167 a0002c0005t0003g0176 a0002c0005t0007g0231 a0002c0005t0007g0237 a0002c0005t0007g0238 a0002c0005t0007g0260 a0002c0009t0003g0079 a0002c0009t0003g0092 a0002c0009t0003g0101 a0002c0009t0003g0126 a0002c0009t0013g0067 a0002c0010t0007g0205 a0002c0010t0007g0206 a0002c0010t0007g0218 a0002c0022t0003g0030 a0003c0021t0035g0186 a0003c0023t0011g0020 a0003c0025t0011g0055 a0005c0028t0002g0110 a0006c0026t0006g0159 a0007c0018t0005g0199	107	234	0.4573	-123	c.460 others(19): Show c.460-11198_460-11076del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BRDT_chr1_91944401_92019421	91962197	AGGCTAAG others(116): Show AGGCTAAGGCATATATAGTGAAACTTTTACTATTTGTATATAAAAAATTT GTATTTGTTTAAAAATTGATTCCTTTGCCATTTGGCTTTTTTTTTTTTTC ATCCTGTCTTAATCATGATGTGCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0115 a0004c0004t0002g0115	1	314	0.0032	-123	c.-37 others(15): Show c.-37-520_-37-398del	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18			chr1	TogoVar
C2CD4C_chr19_400445_414147	404033	GGGGGACG others(116): Show GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCC CGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGG ACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	315	0.0032	-123	c.29 others(11): Show c.2940_*3062del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1411		chr19	TogoVar
C7orf50_chr7_992006_1143247	1099090	GCGGCCTC others(116): Show GCGGCCTCCCCTTCCGGAGCCTCGCTGTCGCGTTCCTGCAGCCGGCCTCC CCTTCCGGAGCCTCGCTGTCGCGTTCCTGCAGCCGGCCTCCCCTTCCGGA GCCTCGCTGTCGCGTTCCTGCAGC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20752.hp1 HG03927.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0003 a0001c0001 a0006c0003	a0001c0001t0011 a0006c0003t0011 a0001c0001t0011 a0006c0003t0011	a0001c0001t0011g0262 a0006c0003t0011g0258 a0001c0001t0011g0262 a0006c0003t0011g0258	2	60	0.0333	-123	c.129 others(19): Show c.129+28044_129+28166del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318513	AGGGAAAG others(116): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	319	0.0031	-123	c.835 others(17): Show c.835-7643_835-7521del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CANT1_chr17_78986716_79014764	79004817	GAGTTAGG others(116): Show GAGTTAGGGAGGGGAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGTTAG GGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGG AGCTGGGGGGGAGTTATGGAGCAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	392	0.0026	-123	c.-14 others(19): Show c.-147+4724_-147+4846del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCDC85C_chr14_99495190_99609207	99520432	GCCCCGAT others(116): Show GCCCCGATCACGGCCCCTGCACCTCAGTTCATCCCATTCCTGGGGGCCTG CCCGCCGACCAGCCCCAATCACGGCCCCTGCACCTCAGTTCATCCCACTC CTGGGGGCCTGCCCGCCGACCAGC	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0180 a0001c0001t0051g0180	1	298	0.0034	-123	c.975 others(17): Show c.975+1578_975+1700del	CCDC85C	ENSG00000205476.9	transcript	ENST00000380243.9	protein_coding	3/5			chr14	TogoVar
CDK12_chr17_39456486_39539544	39499087	CTTTCTTT others(116): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19001.hp1 NA19002.hp1 NA18966.hp1 NA19001.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0104 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0104	3	257	0.0117	-123	c.242 others(19): Show c.2420-2159_2420-2037del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CEP72_chr5_607340_658553	650964	TGGACTGT others(116): Show TGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGAC TGTGAGGTGTGACTGTGAGGCGTG	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0026 a0003c0003t0002g0026	1	57	0.0175	-123	c.177 others(19): Show c.1779-2022_1779-1900del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
COL6A2_chr21_46093112_46134801	46111673	GGGGGCTC others(116): Show GGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTACCCAGGTGCCAG GGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTA CCCAGGTGCCAGGGGTCGGGGGCC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0042 a0008c0042	a0008c0042t0002 a0008c0042t0002	a0008c0042t0002g0267 a0008c0042t0002g0267	1	370	0.0027	-123	c.115 others(14): Show c.115+87_116-179del	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46111673	GGGGGCTC others(116): Show GGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTACCCAGGTGCCAG GGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCAGTTGGGACCAGTA CCCAGGTGCCAGGGGTCGGGGGCC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0011 a0011	a0011c0066 a0011c0066	a0011c0066t0002 a0011c0066t0002	a0011c0066t0002g0269 a0011c0066t0002g0269	1	362	0.0028	-123	c.115 others(14): Show c.115+87_116-179del	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
CSNK1G2_chr19_1936172_1986338	1967759	CGACCACC others(116): Show CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTCCC CAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCC TCCCTTCTCCCCAGGCTGCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02083.hp2 HG01993.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0335 a0001c0001t0001g0287 a0001c0001t0001g0335	2	334	0.0060	-123	c.-26 others(19): Show c.-265-1748_-265-1626del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
DGKB_chr7_14140049_14907751	14211837	ACTCTCAT others(116): Show ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCGTGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0111 a0003c0011t0002g0111	1	146	0.0068	-123	c.212 others(21): Show c.2123-33809_2123-33687del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51776035	TTCTACAG others(116): Show TTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCT CCTACATGTATTCTCCTACATGTA	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	416	0.0024	-123	c.363 others(16): Show c.363+902_363+1024del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar

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