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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
CYTH3_chr7_6156779_6277624	6259757	TTATATAT others(49): Show TTATATATATATATATTATATATATATAATATATATATATATATATATAT ATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0012 a0001c0003t0003g0013	2	348	0.0058	-56	c.34+ others(73): Show c.34+12661_34+12716delTATATATATATATATATATATATATATA TTATATATATATAATATATATATATATA		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12					chr7	TogoVar
DAB1_chr1_56989778_57429060	57395726	ATCCCATG others(49): Show ATCCCATGGCTACCATATTAGGGAATACAGACCTATAGCATTCTTAAGTA TAGAGGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(86): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18968.hp2 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0003t0010 a0002c0002t0003 a0003c0004t0017 a0004c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(86): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0037 a0001c0001t0003g0099 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0137 a0001c0001t0004g0036 a0001c0001t0004g0041 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0081 a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0045 a0001c0001t0005g0063 a0001c0001t0006g0038 a0001c0001t0006g0086 a0001c0001t0006g0094 a0001c0001t0006g0115 a0001c0001t0006g0134 a0001c0001t0007g0010 a0001c0001t0007g0021 a0001c0001t0007g0028 a0001c0001t0007g0100 a0001c0001t0008g0025 a0001c0001t0008g0089 a0001c0001t0011g0059 a0001c0001t0011g0085 a0001c0001t0012g0013 a0001c0001t0020g0046 a0001c0001t0021g0055 a0001c0003t0010g0057 a0001c0003t0010g0135 a0002c0002t0003g0017 a0002c0002t0003g0129 a0003c0004t0017g0026 a0004c0006t0001g0032	89	138	0.6449	-56	c.-13 others(77): Show c.-137+28148_-137+28203delGCCTCTATACTTAAGAATGCTATA GGTCTGTATTCCCTAATATGGTAGCCATGGGA		DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14					chr1	TogoVar
DACH1_chr13_71432966_71872204	71816621	TGTATATA others(49): Show TGTATATATACACACACATATGTGTGTATATATATACACGTGTATATATA TACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02735.hp2 HG02055.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0014 a0001c0001t0001g0052	2	102	0.0196	-56	c.848 others(75): Show c.848+49245_848+49300delGTGTGTATATATATACACGTGTATAT ATATACACACATATGTGTGTGTATATATAC		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10					chr13	TogoVar
DBH_chr9_133631363_133664329	133664062	GGGCTCAC others(49): Show GGGCTCACGTCTGCCTGCTTCTCTGGAGGAGGGGGTCTTGGTCTTGCTAC CTGCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0027	1	402	0.0025	-56	c.56 others(67): Show c.5616_*5671delGGCTCACGTCTGCCTGCTTCTCTGGAGGAGGGGG TCTTGGTCTTGCTACCTGCCCT		DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding				4734		chr9	TogoVar
DBN1_chr5_177451610_177478634	177467953	TGCTCTGG others(49): Show TGCTCTGGGCCTTCAGTTCCCTTCCCCAGCCCCGGCCGCATACCCAGTTG ATGAGCA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0056 a0002c0002t0004g0057	2	346	0.0058	-56	c.255 others(70): Show c.255+99_256-137delTGCTCATCAACTGGGTATGCGGCCGGGGCTG GGGAAGGGAACTGAAGGCCCAGAGC		DBN1	ENSG00000113758.14	transcript	ENST00000393565.6	protein_coding	3/14					chr5	TogoVar
DBN1_chr5_177451610_177478634	177467970	TCCCTTCC others(49): Show TCCCTTCCCCAGCCCCGGCCGCATACCCAGTTGATGAGCAGCTCTGGGCC CTCAGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(181): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18962.hp2 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0008 a0009 a0010 a0012	a0001c0001 a0001c0004 a0001c0005 others(14): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0001c0020 a0002c0002 a0002c0003 a0002c0006 a0002c0008 a0002c0021 a0004c0015 a0005c0010 a0007c0012 a0008c0017 a0009c0013 a0010c0009 a0012c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0004t0001 a0001c0004t0011 a0001c0005t0001 a0001c0011t0005 a0001c0020t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0020 a0002c0002t0021 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0006t0003 a0002c0008t0008 a0002c0021t0009 a0004c0015t0001 a0005c0010t0001 a0007c0012t0001 a0008c0017t0001 a0009c0013t0014 a0010c0009t0001 a0012c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(128): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0003g0033 a0001c0001t0003g0109 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0004g0081 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0136 a0001c0001t0005g0143 a0001c0001t0005g0151 a0001c0001t0005g0233 a0001c0001t0006g0102 a0001c0001t0006g0236 a0001c0001t0008g0141 a0001c0001t0008g0186 a0001c0001t0010g0011 a0001c0001t0011g0045 a0001c0001t0018g0239 a0001c0004t0001g0237 a0001c0004t0011g0025 a0001c0005t0001g0135 a0001c0011t0005g0182 a0001c0020t0003g0144 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0231 a0002c0002t0002g0001 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0101 a0002c0002t0003g0226 a0002c0002t0004g0073 a0002c0002t0006g0010 a0002c0002t0006g0075 a0002c0002t0006g0077 a0002c0002t0007g0009 a0002c0002t0007g0050 a0002c0002t0007g0218 a0002c0002t0007g0219 a0002c0002t0009g0046 a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0020g0241 a0002c0002t0021g0242 a0002c0003t0002g0024 a0002c0003t0002g0083 a0002c0003t0004g0082 a0002c0003t0005g0114 a0002c0006t0003g0120 a0002c0006t0003g0234 a0002c0008t0008g0216 a0002c0021t0009g0048 a0004c0015t0001g0125 a0005c0010t0001g0132 a0007c0012t0001g0210 a0008c0017t0001g0191 a0009c0013t0014g0238 a0010c0009t0001g0217 a0012c0018t0001g0190	184	346	0.5318	-56	c.255 others(70): Show c.255+82_255+137delGGCTGAGGGCCCAGAGCTGCTCATCAACTGG GTATGCGGCCGGGGCTGGGGAAGGG		DBN1	ENSG00000113758.14	transcript	ENST00000393565.6	protein_coding	3/14					chr5	TogoVar
DBNDD1_chr16_89999871_90024456	90004472	CACGTGGG others(49): Show CACGTGGGGTGGGACTTCTGTAACTCCCTCCCCTGGCCCAGGCCACCTTT ACGTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0045	1	412	0.0024	-56	c.18 others(67): Show c.1807_*1862delTGCACGTAAAGGTGGCCTGGGCCAGGGGAGGGAG TTACAGAAGTCCCACCCCACGT		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding				398		chr16	TogoVar
DCAKD_chr17_45018344_45056632	45051865	CCGGGAGA others(49): Show CCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGG GCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0099 a0001c0001t0033g0099	1	408	0.0025	-56	c.-67 others(65): Show c.-675_-620delCGTCCGCCCGCCCGCCCAACCTCTCCCGCGTCCGCC CGCCCGCCCAACCTCTCCCG		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding				234		chr17	TogoVar
DCC_chr18_52335197_53540899	53047256	ATATATAT others(49): Show ATATATATATATATATATATATATATATATATAATTTTATATATATATAT ATAATTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0013 a0001c0003t0008g0013	1	114	0.0088	-56	c.986 others(75): Show c.986-16036_986-15981delTATATATATATATATATATAATTTTA TATATATATATATAATTTTATATATATATA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28				INFO_REALIGN_3_PRIME	chr18	TogoVar
DDA1_chr19_17304563_17328298	17315127	ATACACAC others(49): Show ATACACACATATATATACACACACGTATATATACACACGTGTATATACAC ACACGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0232 a0001c0001t0037g0232	1	388	0.0026	-56	c.136 others(71): Show c.136+741_137-749delCACACATATATATACACACACGTATATATA CACACGTGTATATACACACACGTGTA		DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4				INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315144	CACACACG others(49): Show CACACACGTATATATACACACGTGTATATACACACACGTGTATACACACA CGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0218 a0001c0001t0013g0218	1	388	0.0026	-56	c.136 others(71): Show c.136+764_137-726delATATATACACACGTGTATATACACACACGT GTATACACACACGTGTATACACACGT		DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4				INFO_REALIGN_3_PRIME	chr19	TogoVar
DECR2_chr16_396885_417482	406785	CCACTGTG others(49): Show CCACTGTGCCCGGCCGGCACCTCAGCCTCCCAAAGTGCCAGGATTACAGG TGTGAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(132): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0005 a0001c0011 others(2): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0009c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0005t0001 a0001c0011t0001 a0002c0002t0002 a0009c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(70): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0169 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0005t0001g0092 a0001c0011t0001g0016 a0002c0002t0002g0183 a0009c0007t0001g0002	135	367	0.3679	-56	c.201 others(71): Show c.201+444_201+499delTCACTGTGCCCGGCCGGCACCTCAGCCTCC CAAAGTGCCAGGATTACAGGTGTGAA		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	408039	GGGCCTCT others(49): Show GGGCCTCTGTCTCCGGCCCTCTGTCTCCGGGCCCCTGTCTCCGGGCCCCT GTCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02451.hp1 HG03688.hp1 HG01346.hp2 HG02451.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0093	3	367	0.0082	-56	c.337 others(71): Show c.337+481_337+536delGCCTCTGTCTCCGGCCCTCTGTCTCCGGGC CCCTGTCTCCGGGCCCCTGTCTCCAG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8				INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	408041	GCCTCTGT others(49): Show GCCTCTGTCTCCGGCCCTCTGTCTCCGGGCCCCTGTCTCCGGGCCCCTGT CTCCAGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01109.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	367	0.0055	-56	c.337 others(71): Show c.337+484_337+539delTCTGTCTCCGGCCCTCTGTCTCCGGGCCCC TGTCTCCGGGCCCCTGTCTCCAGCCC		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8				INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	408086	CCTGTCTC others(49): Show CCTGTCTCCAGCCCCCTGTCTCCGGACCTCTGTCTCCGGGCCCCTGTCTC CGGGCCT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	367	0.0027	-56	c.337 others(71): Show c.337+535_337+590delAGCCCCCTGTCTCCGGACCTCTGTCTCCGG GCCCCTGTCTCCGGGCCTCTGTCTCC		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8				INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB1_chr8_6865592_6882936	6882858	GCCCTGGA others(49): Show GCCCTGGATGGAAGGAGCTGGATTTCTGGTCCTGGATGGAAGGAGCTGGA TTTCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02809.hp2 others(1): Show HG02572.hp2 HG02647.hp1 HG02809.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0010g0062	4	478	0.0084	-56	c.-50 others(67): Show c.-5057_-5002delTCAGAAATCCAGCTCCTTCCATCCAGGACCAGAA ATCCAGCTCCTTCCATCCAGGG		DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding				4923		chr8	TogoVar
DEGS1_chr1_224178240_224198441	224190361	ATTTGTTT others(49): Show ATTTGTTTGTTTTTTGAGACGGTGTCTCACTCAGTCGCCCAGGCTGGCGG GCAGTGG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	426	0.0024	-56	c.825 others(69): Show c.825+43_825+98delTTTGTTTGTTTTTTGAGACGGTGTCTCACTCA GTCGCCCAGGCTGGCGGGCAGTGG		DEGS1	ENSG00000143753.14	transcript	ENST00000323699.9	protein_coding	2/2					chr1	TogoVar
DENND1A_chr9_123374658_123935126	123690071	AGGGAAGA others(49): Show AGGGAAGAAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAGAAAAAGGA GGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	162	0.0062	-56	c.303 others(75): Show c.303-13338_303-13283delCCCTCCCTCCTTTTTCTTCCTCCCTC CCTCCCTCCCTCCCTCCTTTCCTTCTTCCC		DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23					chr9	TogoVar
DGKH_chr13_42043648_42247896	42207123	CTCCTTCC others(49): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0040 a0001c0004t0040	a0001c0004t0040g0063 a0001c0004t0040g0063	1	316	0.0032	-56	c.260 others(74): Show c.2601+996_2601+1051delCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTC		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775561	TCTCCTAC others(49): Show TCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAG TATTCTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03491.hp2 HG03492.hp2 others(4): Show HG01433.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 NA18939.hp2 NA18997.hp2 NA19005.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0061 a0001c0001t0002g0266 a0001c0001t0002g0267 others(3): Show a0001c0001t0002g0061 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0279 a0001c0001t0002g0306 a0003c0003t0002g0201	7	420	0.0167	-56	c.363 others(73): Show c.363+1443_363+1498delGAGAATACTGTAGGAGAATACATGTAGG AGAATACTGTAGGAGAATACTGTAGGAG		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8					chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775770	CTACATGT others(49): Show CTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCT CCTACAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18988.hp2 NA19084.hp1 HG01884.hp2 NA18988.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0030 a0001c0001t0001g0139 a0001c0001t0007g0156 a0001c0001t0001g0030 a0001c0001t0001g0139 a0001c0001t0007g0156	3	420	0.0071	-56	c.363 others(73): Show c.363+1234_363+1289delCTGTAGGAGAATACATGTAGGAGAATAC TGTAGGAGAATACTGTAGAATACATGTA		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8					chr13	TogoVar
DIAPH2_chrX_96679842_97609997	96962440	TACATATA others(49): Show TACATATATACACACACATATATATATACATATATATATACACACACACA CACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG02895.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0011g0001 a0001c0001t0011g0002	2	147	0.0136	-56	c.193 others(75): Show c.1936-2651_1936-2596delCATATATACACACACATATATATATA CATATATATATACACACACACACACACACA		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579634	AAAAAAAA others(49): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATATA TATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	284	0.0035	-56	c.101 others(75): Show c.101-46340_101-46285delAAAAAAAAAATATATATATATATATA TATATATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37				INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579636	AAAAAAAA others(49): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATATA TATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	284	0.0035	-56	c.101 others(75): Show c.101-46338_101-46283delAAAAAAAATATATATATATATATATA TATATATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37				INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579644	AATATATA others(49): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0080 a0001c0001t0011g0080	1	284	0.0035	-56	c.101 others(75): Show c.101-46312_101-46257delTATATATATATATATATATATATATA TATATATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37				INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	437290	TATGCTCC others(49): Show TATGCTCCACCCACACCTGAGCTCTGAGCTCCACCTCCTGGACATGGTAG GGTGGCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	88	0.0114	-56	c.394 others(73): Show c.394+3525_394+3580delGGCCACCCTACCATGTCCAGGAGGTGGA GCTCAGAGCTCAGGTGTGGGTGGAGCAT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36					chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978613	TATCTATA others(49): Show TATCTATATCTATATATATATATATATCTATATATATATATATATATCTA TATATAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01071.hp1 others(24): Show HG00140.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01257.hp2 HG01496.hp2 HG02055.hp2 HG02257.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18948.hp1 NA18962.hp2 NA18993.hp1 NA19054.hp1 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0003c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0002t0009 a0001c0002t0026 a0001c0003t0003 a0001c0008t0002 a0001c0012t0009 a0003c0009t0003	a0001c0001t0002g0037 a0001c0001t0002g0179 a0001c0001t0002g0180 others(20): Show a0001c0001t0002g0037 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0003g0017 a0001c0001t0007g0246 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0212 a0001c0002t0002g0220 a0001c0002t0009g0048 a0001c0002t0009g0049 a0001c0002t0009g0227 a0001c0002t0026g0048 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0059 a0001c0003t0003g0063 a0001c0003t0003g0068 a0001c0003t0003g0090 a0001c0003t0003g0097 a0001c0008t0002g0250 a0001c0012t0009g0230 a0003c0009t0003g0092	27	408	0.0662	-56	c.657 others(73): Show c.657+5627_657+5682delCTATATCTATATATATATATATATCTAT ATATATATATATATATCTATATATAGAT		DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978626	ATATATAT others(49): Show ATATATATATATATCTATATATATATATATATATCTATATATAGATATAT ATATATC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp2 HG03688.hp2 others(1): Show HG00544.hp1 HG01255.hp2 HG03688.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0176 a0001c0001t0003g0100 a0001c0002t0002g0214 others(1): Show a0001c0001t0002g0176 a0001c0001t0003g0100 a0001c0002t0002g0214 a0001c0002t0002g0217	4	408	0.0098	-56	c.657 others(73): Show c.657+5651_657+5706delCTATATATATATATATATATCTATATAT AGATATATATATATCTATATATATATAT		DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	ATTCCTTC others(49): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG02155.hp2 others(12): Show HG00140.hp2 HG01106.hp2 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG03486.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0002t0001 a0001c0002t0007 a0001c0002t0016 a0001c0002t0024 a0001c0003t0021 a0001c0004t0001 a0001c0004t0032 a0001c0005t0001 a0001c0006t0005 a0003c0010t0003	a0001c0001t0001g0023 a0001c0001t0003g0076 a0001c0001t0004g0019 others(12): Show a0001c0001t0001g0023 a0001c0001t0003g0076 a0001c0001t0004g0019 a0001c0001t0012g0054 a0001c0001t0020g0033 a0001c0002t0001g0039 a0001c0002t0007g0022 a0001c0002t0016g0072 a0001c0002t0024g0034 a0001c0003t0021g0027 a0001c0004t0001g0012 a0001c0004t0032g0065 a0001c0005t0001g0052 a0001c0006t0005g0007 a0003c0010t0003g0057	15	80	0.1875	-56	c.958 others(75): Show c.958-18913_958-18858delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12					chr18	TogoVar
DLGAP2_chr8_732628_1713476	1095058	GTGGACCA others(49): Show GTGGACCACCTTCCCAGGGTGGAGTGAGACAGCCTGGGGCAGCAGCCTGC GCTGGCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03492.hp1 HG02074.hp1 HG02074.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0009 a0002c0001t0007 a0002c0001t0020 a0001c0002t0009 a0002c0001t0007 a0002c0001t0020	a0001c0002t0009g0039 a0002c0001t0007g0038 a0002c0001t0020g0024 a0001c0002t0009g0039 a0002c0001t0007g0038 a0002c0001t0020g0024	3	40	0.0750	-56	c.74- others(75): Show c.74-163756_74-163701delGGCAGCAGCCTGCGCTGGCATGGACC ACCTTCCCAGGGTGGAGTGAGACAGCCTGG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103430	TTTGGTTA others(49): Show TTTGGTTAACGGTGATGACTGGCGGGGCCTTGGTTAACGTTGATGACTGG CGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02258.hp1 HG02074.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0020 a0002c0001t0005 a0002c0001t0020	a0002c0001t0005g0028 a0002c0001t0020g0024 a0002c0001t0005g0028 a0002c0001t0020g0024	2	40	0.0500	-56	c.74- others(75): Show c.74-155414_74-155359delAACGGTGATGACTGGCGGGGCCTTGG TTAACGTTGATGACTGGCGGGGCCTTGGTT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103469	TTGATGAC others(49): Show TTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGG TTGACGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-56	c.74- others(75): Show c.74-155090_74-155035delGGGGCCTTGGTTGACGGTGATGACTG GCGGGGCCTTGGTTGACGGTGATGACTGGC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351308	GTGTGTGT others(49): Show GTGTGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTGGAACGGCCGTGCGGG TCCTGAC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03516.hp1 HG02818.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0006 a0001c0011 a0002c0006	a0001c0011t0015 a0002c0006t0021 a0001c0011t0015 a0002c0006t0021	a0001c0011t0015g0002 a0002c0006t0021g0014 a0001c0011t0015g0002 a0002c0006t0021g0014	2	40	0.0500	-56	c.106 others(75): Show c.106+92460_106+92515delGAACGGCCGTGCGGGTCCTGACTGTG TGTGGAAAGGCCGTGCGGGTCCTGAGTGTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	768120	GGGCGGAA others(49): Show GGGCGGAAGTGTCCATGCTGCGAGCGCTCGCGGCTGGGAGCGCAGACACG TGGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(89): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 NA18906.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18986.hp2 NA18989.hp2 NA18993.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19055.hp1 NA19057.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19091.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0003 a0005 a0009 others(1): Show a0003 a0005 a0009 a0015	a0003c0003 a0003c0005 a0003c0010 others(3): Show a0003c0003 a0003c0005 a0003c0010 a0005c0007 a0009c0015 a0015c0027	a0003c0003t0001 a0003c0003t0003 a0003c0003t0005 others(6): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0005 a0003c0003t0008 a0003c0005t0005 a0003c0010t0005 a0005c0007t0003 a0009c0015t0003 a0015c0027t0003	a0003c0003t0001g0192 a0003c0003t0003g0001 a0003c0003t0003g0002 others(75): Show a0003c0003t0001g0192 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0110 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0122 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0153 a0003c0003t0003g0156 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0188 a0003c0003t0003g0190 a0003c0003t0003g0191 a0003c0003t0003g0193 a0003c0003t0003g0214 a0003c0003t0005g0257 a0003c0003t0005g0338 a0003c0003t0008g0100 a0003c0003t0008g0154 a0003c0003t0008g0155 a0003c0003t0008g0180 a0003c0005t0005g0209 a0003c0005t0005g0210 a0003c0005t0005g0216 a0003c0005t0005g0219 a0003c0005t0005g0228 a0003c0005t0005g0255 a0003c0005t0005g0256 a0003c0005t0005g0258 a0003c0005t0005g0259 a0003c0005t0005g0289 a0003c0005t0005g0290 a0003c0005t0005g0292 a0003c0005t0005g0293 a0003c0005t0005g0303 a0003c0010t0005g0260 a0005c0007t0003g0142 a0009c0015t0003g0181 a0015c0027t0003g0141	92	378	0.2434	-56	c.178 others(75): Show c.1784-2330_1784-2275delGAGCGCTCGCGGCTGGGAGCGCAGAC ACGTGGTCCAGGCGGAAGTGTCCATGCTGC		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	8/12				INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH14_chr1_224924675_225404286	225078787	TCTCTCTC others(49): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTC TCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00733.hp2 others(11): Show HG00639.hp2 HG00642.hp1 HG00733.hp2 HG01074.hp2 HG01243.hp2 HG01515.hp1 HG02145.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03927.hp1 HG04204.hp2 NA19079.hp1 NA20805.hp1	a0002 a0006 a0010 others(8): Show a0002 a0006 a0010 a0013 a0016 a0024 a0040 a0048 a0083 a0084 a0089	a0002c0002 a0006c0006 a0010c0010 others(8): Show a0002c0002 a0006c0006 a0010c0010 a0013c0016 a0016c0015 a0024c0100 a0040c0105 a0048c0108 a0083c0087 a0084c0090 a0089c0097	a0002c0002t0001 a0006c0006t0001 a0010c0010t0001 others(8): Show a0002c0002t0001 a0006c0006t0001 a0010c0010t0001 a0013c0016t0001 a0016c0015t0001 a0024c0100t0001 a0040c0105t0001 a0048c0108t0001 a0083c0087t0001 a0084c0090t0001 a0089c0097t0001	a0002c0002t0001g0117 a0002c0002t0001g0121 a0002c0002t0001g0148 others(11): Show a0002c0002t0001g0117 a0002c0002t0001g0121 a0002c0002t0001g0148 a0006c0006t0001g0109 a0010c0010t0001g0033 a0013c0016t0001g0129 a0013c0016t0001g0130 a0016c0015t0001g0087 a0024c0100t0001g0185 a0040c0105t0001g0128 a0048c0108t0001g0112 a0083c0087t0001g0025 a0084c0090t0001g0026 a0089c0097t0001g0107	14	240	0.0583	-56	c.242 others(73): Show c.2425-404_2425-349delTCTCTCTCTCTCTCTCTCTCTCCCTCTC TCTCTCTCTCTCCCTCTCTCTCTCTCTC		DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85				INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAI2_chr17_74269234_74319884	74301862	AGAAGGAA others(49): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	398	0.0025	-56	c.987 others(71): Show c.987+790_987+845delGGAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAA		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74302026	AGAAGGAA others(49): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	398	0.0025	-56	c.987 others(71): Show c.987+898_987+953delGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAA		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAJB6_chr7_157332004_157422439	157369588	AACATTAT others(49): Show AACATTATTATTAAATAGGCCCCTTCTTAACATTGTTATTAAAGAGGCCC TTTCTTC	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02129.hp1 HG02922.hp2 HG01952.hp2 HG02129.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0178 a0001c0001t0011g0116 a0001c0001t0011g0117 a0001c0001t0002g0178 a0001c0001t0011g0116 a0001c0001t0011g0117	3	372	0.0081	-56	c.346 others(73): Show c.346+2120_346+2175delTAGGCCCCTTCTTAACATTGTTATTAAA GAGGCCCTTTCTTCACATTATTATTAAA		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157370244	TTTCTTAA others(49): Show TTTCTTAACATTATTATTAAACCGGCCTTTCATTAACGTTATTATTAAAT GGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	372	0.0027	-56	c.346 others(73): Show c.346+2783_346+2838delCGGCCTTTCATTAACGTTATTATTAAAT GGGCCCCTTCTTAACATTATTATTAAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC24_chr11_31364860_31437835	31428900	GCCCATGG others(49): Show GCCCATGGTGTCCTCTGTGTCATTTACCAAGAACATGTCAACTCAAATTG TTTTTCA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	354	0.0028	-56	c.320 others(73): Show c.320-1370_320-1315delCCCATGGTGTCCTCTGTGTCATTTACCA AGAACATGTCAACTCAAATTGTTTTTCA		DNAJC24	ENSG00000170946.15	transcript	ENST00000465995.6	protein_coding	4/4					chr11	TogoVar
DNAJC5_chr20_63890126_63941011	63919415	AGGACAGC others(49): Show AGGACAGCGCCACGGAAGAGGACACACCCGGCTGTGTGGACATGTGCCCA GGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0071 a0001c0001t0058g0071	1	372	0.0027	-56	c.-11 others(73): Show c.-11-8897_-11-8842delACACCCGGCTGTGTGGACATGTGCCCAG GGCCCGGGACAGCGCCACGGAAGAGGAC		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr20	TogoVar
DNAJC5_chr20_63890126_63941011	63919790	CGGAAGAG others(49): Show CGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCCCGGGACA GCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01074.hp1 others(2): Show HG00280.hp2 HG00621.hp1 HG01074.hp1 NA19009.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0023 a0001c0001t0027 a0001c0001t0013 a0001c0001t0023 a0001c0001t0027	a0001c0001t0013g0265 a0001c0001t0013g0266 a0001c0001t0013g0267 others(2): Show a0001c0001t0013g0265 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0023g0263 a0001c0001t0027g0264	5	372	0.0134	-56	c.-11 others(73): Show c.-11-8489_-11-8434delTGGAAGAGGACGCACCCGGCTGTGTGCA CATGTGCCCAGGGCCCGGGACAGCGCCA		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr20	TogoVar
DNAJC5_chr20_63890126_63941011	63919912	CGCACCCG others(49): Show CGCACCCGGCTGTGTGCACATGTGCCCAGGGCCCGGGACAGCGCCACGGA AGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02280.hp1 others(6): Show HG01884.hp2 HG02055.hp2 HG02280.hp1 HG02622.hp1 HG02886.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0031 a0001c0003t0008 a0001c0001t0002 a0001c0001t0031 a0001c0003t0008	a0001c0001t0002g0028 a0001c0001t0002g0167 a0001c0001t0002g0168 others(5): Show a0001c0001t0002g0028 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0031g0170 a0001c0003t0008g0293	9	372	0.0242	-56	c.-11 others(73): Show c.-11-8407_-11-8352delCACATGTGCCCAGGGCCCGGGACAGCGC CACGGAAGAGGATGCACCCGGCTGTGTG		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr20	TogoVar
DNASE1_chr16_3649691_3663095	3656047	CCAGAGGG others(49): Show CCAGAGGGGTCCCCTATGGCCCCCGCCACTGGGACCTTTTGTTTCTTCAA TCCAGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00544.hp1 HG00544.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0033 a0007c0012t0001g0033	1	440	0.0023	-56	c.237 others(66): Show c.237-54_238delCAGAGGGGTCCCCTATGGCCCCCGCCACTGGGACC TTTTGTTTCTTCAATCCAGGG	p.Asp others(4): Show p.Asp80fs	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding	4/9	237/849	79/282			chr16	TogoVar
DNASE1_chr16_3649691_3663095	3656330	AGGTCCCG others(49): Show AGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTG TCGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp2 others(205): Show HG00099.hp1 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0015 a0017	a0001c0001 a0001c0020 a0002c0002 others(12): Show a0001c0001 a0001c0020 a0002c0002 a0002c0003 a0002c0005 a0002c0018 a0003c0004 a0004c0006 a0005c0007 a0006c0008 a0008c0017 a0009c0015 a0011c0023 a0015c0021 a0017c0011	a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0003t0003 a0002c0005t0002 a0002c0018t0001 a0003c0004t0001 a0004c0006t0001 a0005c0007t0001 a0006c0008t0001 a0008c0017t0001 a0009c0015t0001 a0011c0023t0001 a0015c0021t0001 a0017c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0020t0001g0020 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0020t0001g0020 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0004g0001 a0002c0002t0005g0001 a0002c0002t0006g0001 a0002c0002t0008g0001 a0002c0003t0003g0007 a0002c0005t0002g0035 a0002c0018t0001g0032 a0003c0004t0001g0001 a0004c0006t0001g0001 a0005c0007t0001g0001 a0006c0008t0001g0015 a0008c0017t0001g0004 a0009c0015t0001g0004 a0011c0023t0001g0001 a0015c0021t0001g0004 a0017c0011t0001g0004	208	440	0.4727	-56	c.321 others(70): Show c.321-137_321-82delTCCCGGACCAATGGGTTGAGCAGGTGCCTGG CTCCCCCGCCCTCCTGTCGCCTGGG		DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding	4/8				INFO_REALIGN_3_PRIME	chr16	TogoVar
DNER_chr2_229352629_229719555	229587447	AACAAAGT others(49): Show AACAAAGTCCCTCTTCCAAACATGTTCAGGGACTCCACTGTTTAGAAAGC CAGGTAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0009 a0002c0003t0002g0009	1	176	0.0057	-56	c.680 others(71): Show c.680+891_680+946delCTACCTGGCTTTCTAAACAGTGGAGTCCCT GAACATGTTTGGAAGAGGGACTTTGT		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	3/12					chr2	TogoVar
DOCK10_chr2_224760090_225047468	225016598	CACATAGA others(49): Show CACATAGATACATATATCTATGTGCACATAGATACATATATCTATGTGCA CATAGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00735.hp1 others(39): Show HG00140.hp2 HG00280.hp1 HG00735.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG02027.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1 NA18945.hp1 NA18961.hp1 NA18982.hp2 NA18986.hp2 NA18991.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010 a0012	a0001c0001 a0001c0004 a0001c0006 others(14): Show a0001c0001 a0001c0004 a0001c0006 a0001c0018 a0002c0002 a0002c0003 a0002c0007 a0002c0008 a0002c0009 a0002c0012 a0002c0022 a0003c0005 a0006c0010 a0007c0011 a0008c0035 a0010c0031 a0012c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0004t0013 a0001c0006t0001 a0001c0018t0001 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0007t0003 a0002c0008t0008 a0002c0009t0001 a0002c0012t0001 a0002c0022t0004 a0003c0005t0001 a0006c0010t0002 a0006c0010t0007 a0007c0011t0001 a0008c0035t0002 a0010c0031t0001 a0012c0032t0016	a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0102 others(39): Show a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0154 a0001c0001t0003g0081 a0001c0001t0003g0118 a0001c0001t0009g0110 a0001c0001t0015g0115 a0001c0004t0013g0101 a0001c0006t0001g0107 a0001c0018t0001g0108 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0099 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0003g0086 a0002c0002t0003g0162 a0002c0003t0001g0087 a0002c0007t0003g0082 a0002c0008t0008g0163 a0002c0009t0001g0079 a0002c0012t0001g0083 a0002c0012t0001g0084 a0002c0022t0004g0031 a0003c0005t0001g0075 a0003c0005t0001g0078 a0006c0010t0002g0096 a0006c0010t0007g0098 a0007c0011t0001g0080 a0008c0035t0002g0103 a0010c0031t0001g0094 a0012c0032t0016g0172	42	172	0.2442	-56	c.123 others(75): Show c.123+25598_123+25653delATCTATGTGCACATAGATATATGTAT CTATGTGCACATAGATATATGTATCTATGT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55					chr2	TogoVar
DOCK10_chr2_224760090_225047468	225035593	TGAATCAG others(49): Show TGAATCAGTGTTAATTGTGTGTTGTATTAGTCAGTGCGGGCTGCCATAAT AACCAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG02965.hp1 others(5): Show HG02486.hp2 HG02818.hp2 HG02965.hp1 HG03041.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 NA18906.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0014 a0016	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009 a0005c0014 a0014c0024 a0016c0028	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0009t0003 a0005c0014t0010 a0014c0024t0007 a0016c0028t0001	a0001c0001t0001g0056 a0002c0002t0001g0065 a0002c0002t0001g0068 others(5): Show a0001c0001t0001g0056 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0003t0001g0058 a0002c0009t0003g0066 a0005c0014t0010g0070 a0014c0024t0007g0069 a0016c0028t0001g0067	8	172	0.0465	-56	c.123 others(73): Show c.123+6603_123+6658delTTTGGTTATTATGGCAGCCCGCACTGAC TAATACAACACACAATTAACACTGATTC		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55					chr2	TogoVar
DOCK8_chr9_209865_470255	403892	CTATATAT others(49): Show CTATATATATATATATATATATATACATATATATATATGTGTATATATAT ATGTGTA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0025 a0001c0011t0001g0025	1	256	0.0039	-56	c.323 others(74): Show c.3235-1014_3235-959delATATATATATATACATATATATATATG TGTATATATATATGTGTATATATATATAT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47				INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK7_chr4_3458306_3499482	3491326	ATTCATTC others(49): Show ATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCC CTGCTCG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	404	0.0025	-56	c.773 others(73): Show c.773-1419_773-1364delTCTTCGCCTGCTTGTTCCTTCCTTCCTC TGCTCCCCCTGCTCGTTCATTCCTTCCT		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr4	TogoVar

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