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	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CPTP_chr1_1319802_1333896	1324172	G G	GGGGCTCG others(42): Show GGGGCTCGGGGGGCTGGGGGGCTGCTGGGCTGAGAGGCTGGGAGACTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	49	c.-10 others(60): Show c.-1006_-1005insGGGCTCGGGGGGCTGGGGGGCTGCTGGGCTGAGA GGCTGGGAGACTGGA		CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding					629		chr1	TogoVar
CR1_chr1_207491157_207646765	207525483	T T	TGCTGGAG others(42): Show TGCTGGAGCCAAAGTCATTGGCATCGTTACAATTGAAGCTGTAGCTACTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0139 a0001c0001t0007g0139	1	360	0.0028	49	c.887 others(66): Show c.887-1269_887-1221dupGCTGGAGCCAAAGTCATTGGCATCGTTA CAATTGAAGCTGTAGCTACTC		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	5/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB1_chr2_207524962_207610988	207610974	G G	GTCAGCCC others(42): Show GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG00741.hp1 others(20): Show HG00099.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01496.hp2 HG01891.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG03209.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0034 a0001c0001t0036	a0001c0001t0005g0029 a0001c0001t0005g0263 a0001c0001t0005g0268 others(20): Show a0001c0001t0005g0029 a0001c0001t0005g0263 a0001c0001t0005g0268 a0001c0001t0005g0276 a0001c0001t0005g0278 a0001c0001t0005g0281 a0001c0001t0005g0284 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0006g0030 a0001c0001t0006g0264 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0277 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0285 a0001c0001t0006g0289 a0001c0001t0009g0283 a0001c0001t0009g0286 a0001c0001t0013g0266 a0001c0001t0034g0287 a0001c0001t0036g0282	23	308	0.0747	49	c.13 others(62): Show c.13916_*13917insTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGA		CREB1	ENSG00000118260.15	transcript	ENST00000353267.8	protein_coding					4987		chr2	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCCAC others(42): Show CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0168 a0001c0003t0002g0168	1	324	0.0031	49	c.101 others(66): Show c.1010-538_1010-537insCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCCACCCCGGGTCCCC		CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
CRLF3_chr17_30777684_30829692	30808013	G G	GATTCAGC others(42): Show GATTCAGCTCACCATCATCCAGAGACAAAGAAAAAAATAAAATAGAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	324	0.0031	49	c.130 others(66): Show c.130-3906_130-3905insTTTTTCTATTTTATTTTTTTCTTTGTCT CTGGATGATGGTGAGCTGAAT		CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	1/7						chr17	TogoVar
CROCC2_chr2_240901336_240998311	240904616	C C	CGGATGCC others(42): Show CGGATGCCCCTTCCTCACTCTACCCCGCCCTGCCGTCCACAGGTCCACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA18960.hp1 HG02572.hp2 NA18960.hp1	a0009 a0022 a0009 a0022	a0009c0009 a0022c0091 a0009c0009 a0022c0091	a0009c0009t0001 a0022c0091t0001 a0009c0009t0001 a0022c0091t0001	a0009c0009t0001g0076 a0022c0091t0001g0133 a0009c0009t0001g0076 a0022c0091t0001g0133	2	350	0.0057	49	c.-18 others(60): Show c.-1898_-1897insGGATGCCCCTTCCTCACTCTACCCCGCCCTGCCG TCCACAGGTCCACAT		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding					1719		chr2	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0093 a0002c0002t0093	a0002c0002t0093g0230 a0002c0002t0093g0230	1	290	0.0035	49	c.684 others(68): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATTTTTTTTTTTTTTTT		CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9						chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0235 a0002c0002t0021g0235	1	290	0.0035	49	c.684 others(68): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATATTTTTTTTTTTTTT		CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9						chr7	TogoVar
CRTC3_chr15_90524923_90650345	90647321	T T	TCCTCCTC others(42): Show TCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0032 a0003c0003t0009g0032	1	276	0.0036	49	c.51 others(60): Show c.5181_*5182insCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCA ATCCTCCTCCACACC		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					1977		chr15	TogoVar
CRYBB2_chr22_25214639_25236869	25218814	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	464	0.0022	49	c.-87 others(58): Show c.-879_-878insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGA		CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding					824		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361969	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01928.hp1 NA19077.hp2 HG01070.hp2 HG01928.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0011 a0001c0001 a0002c0003 a0002c0011	a0001c0001t0005 a0002c0003t0006 a0002c0011t0003 a0001c0001t0005 a0002c0003t0006 a0002c0011t0003	a0001c0001t0005g0135 a0002c0003t0006g0134 a0002c0011t0003g0003 a0001c0001t0005g0135 a0002c0003t0006g0134 a0002c0011t0003g0003	3	272	0.0110	49	c.173 others(64): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTT		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106361972	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18948.hp1 NA18945.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0089 a0001c0001t0001g0090	2	272	0.0074	49	c.173 others(64): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21						chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106483401	T T	TATATATA others(42): Show TATATATATGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	272	0.0037	49	c.313 others(68): Show c.313-28028_313-28027insTATATATGTATATATATATATATATA TATATATATATATATATATATAA		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTCTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	49	c.-16 others(60): Show c.-1638_-1637insAAGAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGA GAAGAAAGAAAGAAA		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1575		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3039361	C C	CTCTCCCT others(42): Show CTCTCCCTCCCTTCCTTCTTTTCCTTACTTCCTTCCTCTCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp1 HG02922.hp2 others(3): Show HG01123.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 NA20129.hp1	a0001 a0006 a0023 others(2): Show a0001 a0006 a0023 a0028 a0039	a0001c0026 a0001c0039 a0006c0008 others(3): Show a0001c0026 a0001c0039 a0006c0008 a0023c0069 a0028c0044 a0039c0010	a0001c0026t0006 a0001c0039t0066 a0006c0008t0082 others(3): Show a0001c0026t0006 a0001c0039t0066 a0006c0008t0082 a0023c0069t0043 a0028c0044t0064 a0039c0010t0070	a0001c0026t0006g0093 a0001c0039t0066g0080 a0006c0008t0082g0126 others(3): Show a0001c0026t0006g0093 a0001c0039t0066g0080 a0006c0008t0082g0126 a0023c0069t0043g0100 a0028c0044t0064g0085 a0039c0010t0070g0084	6	126	0.0476	49	c.766 others(68): Show c.7661-9849_7661-9848insAAGGGAGGGAGAGAGGAAGGAAGTAA GGAAAAGAAGGAAGGGAGGGAGA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	50/69						chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165667003	G G	GAGGAAGG others(42): Show GAGGAAGGAAGGAAGGAAAGAGAGAGAGGAAGAAAGAAAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03041.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0035 a0001c0001t0067 others(1): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0067 a0001c0002t0097	a0001c0001t0003g0217 a0001c0001t0035g0181 a0001c0001t0067g0216 others(1): Show a0001c0001t0003g0217 a0001c0001t0035g0181 a0001c0001t0067g0216 a0001c0002t0097g0196	4	246	0.0163	49	c.408 others(66): Show c.408+9011_408+9059dupGAAGAAAGAAAGAGAGAGAGAAAGGAAG GAAGGAAGGAAAGAGAGAGAG		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490347	A A	ATATTAAT others(42): Show ATATTAATTATATATATATAAAATATATATAAATTATATATATATTAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG03704.hp2 HG00735.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	440	0.0046	49	c.-11 others(60): Show c.-1139_-1138insTATTAATTATATATATATAAAATATATATAAATT ATATATATATTAATT		CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding					769		chr20	TogoVar
CSTPP1_chr11_46931761_47167247	47097419	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00609.hp1 others(103): Show HG00280.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18955.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19062.hp2 NA19080.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0009 others(1): Show a0001c0001 a0001c0004 a0002c0009 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0009t0001 a0004c0006t0001	a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0084 others(103): Show a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0217 a0001c0004t0001g0111 a0002c0009t0001g0088 a0004c0006t0001g0200	106	224	0.4732	49	c.281 others(68): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGG		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47097452	G G	GGGGGGGT others(42): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01257.hp1 others(18): Show HG00735.hp2 HG01074.hp2 HG01257.hp1 HG01261.hp2 HG01515.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03688.hp2 HG03704.hp2 HG04115.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0004g0220	21	224	0.0938	49	c.281 others(68): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTCGGGGGG		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CS_chr12_56266699_56305330	56282972	A A	AAGCCTCG others(42): Show AAGCCTCGGAAACGGATGCCCTTGAGAGAGGAGAGAGAGAATTACAACTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0204 a0002c0004t0001g0204	1	316	0.0032	49	c.268 others(59): Show c.268-30_286dupGAGTTGTAATTCTCTCTCTCCTCTCTCAAGGGCAT CCGTTTCCGAGGCT	p.Phe others(4): Show p.Phe96fs	CS	ENSG00000062485.19	transcript	ENST00000351328.8	protein_coding	5/11	415/2915	286/1401	96/466			chr12	TogoVar
CT45A1_chrX_135708639_135728228	135723962	C C	CATATATG others(42): Show CATATATGGTATATATACCATATATGGTATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	57	0.0175	49	c.92 others(58): Show c.929_*930insATATATGGTATATATACCATATATGGTATATATATA TATATATATATAT		CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding					735		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1210755	C C	CACCCGCT others(42): Show CACCCGCTGCAGTCCTCGTACTACCTGCGCTGCATCCTCGCACCGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	422	0.0024	49	c.14 others(60): Show c.1484_*1485insCCAGGCGGTGCGAGGATGCAGCGCAGGTAGTACG AGGACTGCAGCGGGT		CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding					689		chr4	TogoVar
CTNNA1_chr5_138748425_138940034	138776856	T T	TCCCCCAC others(42): Show TCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGGGGGCTGACC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	180	0.0056	49	c.-2- others(64): Show c.-2-5048_-2-5000dupGCGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCACCTCCCTCCCGG		CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138916177	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	180	0.0056	49	c.139 others(68): Show c.1390-1551_1390-1550insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA		CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNND2_chr5_10966836_11909446	11817446	A A	AGGAGGAG others(42): Show AGGAGGAGAGAGAGAGAGGGGGGGATAGAGGGGGAGAGCGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	26	0.0385	49	c.38- others(66): Show c.38-85175_38-85174insCCTCCCTCCTCGCTCTCCCCCTCTATCC CCCCCTCTCTCTCTCTCCTCC		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTSS_chr1_150725188_150770778	150728583	C C	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	344	0.0029	49	c.44 others(60): Show c.4462_*4463insTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGGAGGTGGGGGGG		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding					1604		chr1	TogoVar
CTXND1_chr15_80190481_80257213	80205961	G G	GAAAGAAA others(42): Show GAAAGAAAATTTGAAAGAAGAAGTCAAAGAGGAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0079 a0001c0002t0079	a0001c0002t0079g0375 a0001c0002t0079g0375	1	396	0.0025	49	c.-21 others(68): Show c.-217-2222_-217-2221insTTTTTTTTTTTTTTTTTTCCTCTTTG ACTTCTTCTTTCAAATTTTCTTT		CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2						chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963496	T T	TAACATAA others(42): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0014 a0002c0030t0014	a0002c0030t0014g0266 a0002c0030t0014g0266	1	342	0.0029	49	c.-6- others(66): Show c.-6-16254_-6-16206dupTGTTATGTTATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTT		CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30						chr15	TogoVar
CYP2E1_chr10_133522363_133544123	133542753	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG06807.hp2 HG02723.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0104 a0001c0002t0001g0106	2	414	0.0048	49	c.37 others(60): Show c.3789_*3790insTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCT TTCTTTCTCTTTCTT		CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding					3631		chr10	TogoVar
CYSTM1_chr5_140170188_140248789	140226476	T T	TATATATT others(42): Show TATATATTTATATATATATAATATATATAAATATATATTAATAATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	324	0.0031	49	c.188 others(68): Show c.188-16812_188-16764dupATAATATATATAAATATATATTAATA ATATATAATATATTTATATATAT		CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TAATATAT others(42): Show TAATATATATATATATATTATATATATATATATAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	348	0.0029	49	c.34+ others(66): Show c.34+12701_34+12702insTTATATATATATATATTATATATATATA TATAATATATATATATATATT		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12						chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATAATAT others(42): Show TATAATATATATATATATTATATATATATATAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0126 a0001c0001t0029g0126	1	348	0.0029	49	c.34+ others(66): Show c.34+12701_34+12702insTTATATATATATATATATTATATATATA TATAATATATATATATATTAT		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12						chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATAATAT others(42): Show TATAATATATATATATATTATATATATATATATAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	348	0.0029	49	c.34+ others(66): Show c.34+12701_34+12702insTTATATATATATATATTATATATATATA TATAATATATATATATATTAT		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12						chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241765855	G G	GTTGGGGA others(42): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGAAGAGGGGGGAGAAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0373 a0003c0008t0005g0373	1	412	0.0024	49	c.130 others(68): Show c.1307-1821_1307-1820insAAGAGGGGGGAGAACTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAG		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766125	G G	GGGCTGAG others(42): Show GGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0328 a0003c0003t0010g0328	1	412	0.0024	49	c.130 others(68): Show c.1307-1582_1307-1534dupCTGAGGGAGTAGGAAGAGGGGGGAGA AGTTGGGGAGATGGGAGCCCCGG		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766945	G G	GGGGGGAG others(42): Show GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0140 a0002c0002t0005g0140	1	412	0.0024	49	c.130 others(66): Show c.1307-759_1307-711dupAGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGG		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241767371	C C	CCCCGGGC others(42): Show CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0318 a0003c0003t0010g0318	1	412	0.0024	49	c.130 others(66): Show c.1307-335_1307-287dupGGGCTGAGGGAGTAGGAAGAGGGGGGAG AAGTTGGGGAGATGGGAGCCC		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
DAO_chr12_108875092_108906043	108903322	G G	GAAGGAAG others(42): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	388	0.0026	49	c.27 others(60): Show c.2787_*2788insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGA		DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding					2280		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571474	C C	CACACACC others(42): Show CACACACCCCAACACACACACACACACACACCCCCCAACACACACACACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	236	0.0042	49	c.63- others(66): Show c.63-33480_63-33479insACACACCCCAACACACACACACACACAC ACCCCCCAACACACACACACA		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25						chr9	TogoVar
DCBLD2_chr3_98790941_98906695	98837300	A A	ACCCCCAC others(42): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18994.hp2 NA19063.hp1 others(1): Show HG02080.hp1 NA18994.hp2 NA19063.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0104 a0001c0002t0015g0105 a0001c0002t0015g0106 others(1): Show a0001c0002t0015g0104 a0001c0002t0015g0105 a0001c0002t0015g0106 a0001c0002t0015g0107	4	330	0.0121	49	c.572 others(68): Show c.572-11935_572-11934insGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGG		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DCC_chr18_52335197_53540899	53300972	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0025 a0001c0008t0025	a0001c0008t0025g0086 a0001c0008t0025g0086	1	114	0.0088	49	c.191 others(68): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTTCTTTCTTTCTTTCTTT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX1_chr2_15586868_15636101	15611480	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCTACCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	396	0.0025	49	c.957 others(66): Show c.957-1701_957-1700insTACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCC		DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611544	C C	CGACTGGC others(42): Show CGACTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0199 a0001c0006t0004g0199	1	396	0.0025	49	c.957 others(66): Show c.957-1679_957-1678insACTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTG		DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611544	C C	CGACTGGC others(42): Show CGACTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp1 HG03209.hp1 others(1): Show HG02717.hp2 HG02970.hp1 HG03209.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 a0001c0004 a0001c0006 a0001c0007	a0001c0004t0003 a0001c0006t0004 a0001c0007t0004 a0001c0004t0003 a0001c0006t0004 a0001c0007t0004	a0001c0004t0003g0197 a0001c0006t0004g0200 a0001c0007t0004g0046 a0001c0004t0003g0197 a0001c0006t0004g0200 a0001c0007t0004g0046	4	396	0.0101	49	c.957 others(66): Show c.957-1679_957-1678insACTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTG		DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611573	G G	GACCTCCC others(42): Show GACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	396	0.0025	49	c.957 others(66): Show c.957-1617_957-1616insGGGGCTGACCCCCCTACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAG		DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611656	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	396	0.0025	49	c.957 others(66): Show c.957-1551_957-1503dupGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCG		DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DEFB124_chr20_31460471_31480127	31470056	G G	GGGCGGCT others(42): Show GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01192.hp1 others(9): Show HG00323.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG02523.hp2 HG03139.hp2 HG04199.hp2 HG04204.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0098 a0001c0001t0002g0099 others(8): Show a0001c0001t0002g0026 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0143 a0001c0001t0002g0144	12	362	0.0332	49	c.58+ others(64): Show c.58+2899_58+2900insTTGTCCAGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCC		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470628	C C	CGGACAGG others(42): Show CGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00735.hp1 others(6): Show HG00408.hp2 HG00544.hp2 HG00735.hp1 HG01928.hp2 HG02280.hp2 HG02976.hp1 HG04115.hp2 HG04204.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0063 a0001c0001t0002g0065 others(5): Show a0001c0001t0002g0006 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0115 a0001c0001t0002g0123	9	362	0.0249	49	c.58+ others(64): Show c.58+2327_58+2328insAGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCTGTCC		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470628	C C	CGGACAGG others(42): Show CGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	362	0.0028	49	c.58+ others(64): Show c.58+2327_58+2328insAGGAGGGAGGTGGGGGGGTCAGCCCCCCAC CCGGCCAGCCGCCCTGTCC		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470649	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAGGGCAGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG02109.hp2 others(4): Show HG00741.hp1 HG01109.hp1 HG02109.hp2 HG02809.hp2 HG03041.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0095 others(3): Show a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0095 a0001c0001t0002g0096 a0002c0003t0002g0020 a0002c0003t0002g0056	7	362	0.0193	49	c.58+ others(64): Show c.58+2306_58+2307insACCCGGCCAGCTGCCCTGTCCAGGAGGGAG GTGGGGGGGTCAGCCCCCC		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar

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