Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

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
OTUD7A_chr15_31470398_31875673	31511068	TATATGTA others(43): Show TATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA C	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp2 HG03942.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0069 a0002c0003t0003g0076 a0002c0003t0003g0069 a0002c0003t0003g0076	2	244	0.0082	-50	c.894 others(67): Show c.894-7300_894-7251delGTATGTTACATATAGATATACATATGTA TGTTACATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(43): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT C	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02809.hp2 others(6): Show HG02257.hp2 HG02630.hp1 HG02809.hp2 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0003 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0008 a0003c0006t0003	a0001c0001t0003g0046 a0001c0001t0003g0176 a0001c0001t0003g0232 others(6): Show a0001c0001t0003g0046 a0001c0001t0003g0176 a0001c0001t0003g0232 a0001c0001t0003g0285 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0002t0002g0043 a0001c0002t0008g0045 a0003c0006t0003g0044	9	396	0.0227	-50	c.-18 others(71): Show c.-180+16038_-180+16087delGAAATGAAATGAAATGAAATGAAA TAAAATAAAATAAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368629	TATTTCAT others(43): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT C	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp2 HG04204.hp1 others(2): Show HG01346.hp1 HG01943.hp2 HG04204.hp1 NA18975.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114	5	396	0.0126	-50	c.-18 others(71): Show c.-180+16013_-180+16062delGACATGAAATGAAATGAAATGAAA TGAAATGAAATGAAATGAAATGAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PA2G4_chr12_56099559_56118910	56116455	AAAACCAA others(43): Show AAAACCAAATACTCGGTCTTCCGAAAGAACTAACTCAACCTACCCTTCTA C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	-50	c.35 others(61): Show c.3568_*3617delAAACCAAATACTCGGTCTTCCGAAAGAACTAACT CAACCTACCCTTCTAC	PA2G4	ENSG00000170515.14	transcript	ENST00000303305.11	protein_coding		2546		chr12	TogoVar
PAAF1_chr11_73871999_73936114	73897187	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02630.hp1 others(2): Show HG01891.hp2 HG02145.hp1 HG02630.hp1 HG03130.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0002c0002t0002 a0003c0003t0002 a0001c0001t0005 a0002c0002t0002 a0003c0003t0002	a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 others(2): Show a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0002c0002t0002g0077 a0003c0003t0002g0301	5	370	0.0135	-50	c.283 others(67): Show c.283-1922_283-1873delGGCGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABIR2_chrX_134764566_134802205	134788222	TTATATAT others(43): Show TTATATATGTGTAATATATACACGTTATATATGTGTAATATATACACGTT A	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA21309.hp1 HG02572.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	217	0.0092	-50	c.435 others(65): Show c.435+458_435+507delTAACGTGTATATATTACACATATATAACGT GTATATATTACACATATATA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172362	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02559.hp1 others(3): Show HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02647.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0035 a0001c0001t0055 a0001c0001t0026 a0001c0001t0035 a0001c0001t0055	a0001c0001t0026g0028 a0001c0001t0026g0127 a0001c0001t0035g0124 others(2): Show a0001c0001t0026g0028 a0001c0001t0026g0127 a0001c0001t0035g0124 a0001c0001t0035g0126 a0001c0001t0055g0123	6	432	0.0139	-50	c.46 others(61): Show c.4664_*4713delTATATATATATATATATATATATATATATATATA TATATATATTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1318		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172366	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG03579.hp1 HG01074.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0129 a0001c0001t0031g0131 a0001c0001t0031g0129 a0001c0001t0031g0131	2	432	0.0046	-50	c.46 others(61): Show c.4668_*4717delTATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1322		chr11	TogoVar
PAH_chr12_102831889_102922244	102868038	ACCTATAT others(43): Show ACCTATATATATGTATATATATACACATATATATACATATATGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	312	0.0032	-50	c.442 others(67): Show c.442-1425_442-1376delCACACACACATATATGTATATATATGTG TATATATATACATATATATAGG	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102868088	GTATATAT others(43): Show GTATATATATATATATACACATATATATACATATATGTGTATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0260 a0001c0003t0005g0260	1	312	0.0032	-50	c.442 others(67): Show c.442-1475_442-1426delTATATATATATACACATATATGTATATA TATGTGTATATATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PALD1_chr10_70473767_70573450	70508793	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGCAGGCCTGTGGGAGCTGCGGAAC C	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0229 a0001c0001t0015g0229	1	308	0.0033	-50	c.-29 others(69): Show c.-29-17115_-29-17066delTGTGTGTGTGTGCAGGCCTGTGGGAG CTGCGGAACCTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALMD_chr1_99641113_99699535	99683038	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG00741.hp1 others(36): Show HG00438.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG02683.hp1 HG02896.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18980.hp2 NA18992.hp2 NA18999.hp2 NA19001.hp1 NA19011.hp2 NA19068.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0008c0013t0001 a0001c0001t0001 a0008c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 others(34): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0301 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0322 a0008c0013t0001g0344	39	380	0.1026	-50	c.252 others(67): Show c.252-3618_252-3569delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAQR5_chr15_69293912_69412780	69300898	TTCCTTCC others(43): Show TTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTC C	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18986.hp2 NA19000.hp2 HG02109.hp2 NA18986.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0003g0131 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0003g0131	3	284	0.0106	-50	c.-27 others(69): Show c.-277+1844_-277+1893delCCTTCCTTCCTTCCTTTCTCTCTCTC TCTCTCTCTCTCTCTTTCTTTCCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300900	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCCT T	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	284	0.0035	-50	c.-27 others(69): Show c.-277+1848_-277+1897delCCTTCCTTCCTTTCTCTCTCTCTCTC TCTCTCTCTCTTTCTTTCCTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARVB_chr22_44019302_44177939	44122512	GAGAGAGA others(43): Show GAGAGAGACAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGA C	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG03225.hp1 others(4): Show HG02258.hp2 HG02630.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0003c0033	a0001c0001t0009 a0001c0001t0010 a0001c0001t0057 others(4): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0057 a0001c0002t0001 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002	a0001c0001t0009g0154 a0001c0001t0010g0322 a0001c0001t0057g0117 others(4): Show a0001c0001t0009g0154 a0001c0001t0010g0322 a0001c0001t0057g0117 a0001c0002t0001g0125 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195	7	332	0.0211	-50	c.376 others(67): Show c.376+3380_376+3429delCAGAGAGACAGAGAGAGAGAGAGAGAGA GAGAGACACAGAGACAGAGAGA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAX5_chr9_36828269_37039268	36973083	CGGAAAGG others(43): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA A	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0097 a0001c0002t0081g0097	1	274	0.0037	-50	c.605 others(67): Show c.605-6409_605-6360delTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973085	GAAAGGAA others(43): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(68): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02738.hp1 HG02976.hp1 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18990.hp2 NA18994.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp1 NA19074.hp1 NA19077.hp2 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0055 a0001c0001t0065 a0001c0001t0075 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0001t0113 a0001c0001t0114 a0001c0001t0119 a0001c0001t0121 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0022 a0001c0002t0108 a0001c0002t0109 a0001c0004t0014	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(68): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0255 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0225 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0046 a0001c0001t0003g0071 a0001c0001t0010g0035 a0001c0001t0011g0059 a0001c0001t0012g0232 a0001c0001t0019g0147 a0001c0001t0021g0031 a0001c0001t0029g0139 a0001c0001t0030g0120 a0001c0001t0030g0177 a0001c0001t0032g0136 a0001c0001t0032g0145 a0001c0001t0036g0266 a0001c0001t0041g0003 a0001c0001t0042g0004 a0001c0001t0043g0005 a0001c0001t0046g0009 a0001c0001t0047g0006 a0001c0001t0055g0019 a0001c0001t0065g0050 a0001c0001t0075g0048 a0001c0001t0088g0172 a0001c0001t0090g0206 a0001c0001t0091g0168 a0001c0001t0102g0167 a0001c0001t0103g0132 a0001c0001t0104g0153 a0001c0001t0106g0151 a0001c0001t0113g0265 a0001c0001t0114g0262 a0001c0001t0119g0271 a0001c0001t0121g0273 a0001c0002t0004g0217 a0001c0002t0005g0146 a0001c0002t0005g0186 a0001c0002t0006g0067 a0001c0002t0006g0068 a0001c0002t0006g0069 a0001c0002t0008g0257 a0001c0002t0009g0119 a0001c0002t0022g0027 a0001c0002t0022g0028 a0001c0002t0108g0215 a0001c0002t0109g0137 a0001c0004t0014g0180	71	274	0.2591	-50	c.605 others(67): Show c.605-6411_605-6362delTCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAXBP1_chr21_32728899_32776755	32771859	TGAGAGAG others(43): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG03710.hp2 HG01256.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0062 a0001c0001t0001g0006 a0001c0001t0001g0062	2	360	0.0056	-50	c.-24 others(59): Show c.-241_-192delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		105		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771899	AGAGAGAG others(43): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02148.hp2 HG02257.hp1 others(5): Show HG01952.hp1 HG02148.hp2 HG02257.hp1 HG02615.hp1 HG03471.hp2 NA18968.hp1 NA18991.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0028 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0162	8	360	0.0222	-50	c.-28 others(59): Show c.-281_-232delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		145		chr21	TogoVar
PBDC1_chrX_76168062_76183314	76178074	CCCTTGTA others(43): Show CCCTTGTATGAACTGGTCTAAAGACTGTTAGTGGGGTGTTAGTTGATTTT T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	293	0.0034	-50	c.17 others(59): Show c.170_*219delTGTATGAACTGGTCTAAAGACTGTTAGTGGGGTGTT AGTTGATTTTTCCT	PBDC1	ENSG00000102390.11	transcript	ENST00000373358.8	protein_coding	6/6	170	INFO_REALIGN_3_PRIME	chrX	TogoVar
PBX3_chr9_125742373_125972377	125780716	ACGGGGGG others(43): Show ACGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03710.hp1 HG03927.hp1 HG00099.hp2 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0172 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0002g0172 a0001c0001t0003g0171 a0001c0001t0003g0173	3	294	0.0102	-50	c.274 others(69): Show c.274+32112_274+32161delCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCC	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45814442	GGTGAGTG others(43): Show GGTGAGTGGTGAGTGGTGAGTGATGAGTGGTGAGTGAGTGATGAGTGGTG A	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(184): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0025 a0001c0003t0020 a0001c0004t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(184): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0113 a0001c0001t0009g0009 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0015g0003 a0001c0001t0016g0027 a0001c0001t0017g0097 a0001c0001t0018g0266 a0001c0001t0019g0224 a0001c0001t0021g0085 a0001c0001t0022g0216 a0001c0001t0023g0111 a0001c0001t0024g0236 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0006g0026 a0001c0002t0006g0033 a0001c0002t0006g0047 a0001c0002t0009g0215 a0001c0002t0009g0285 a0001c0002t0025g0031 a0001c0003t0020g0222 a0001c0004t0002g0086 a0001c0004t0002g0087	187	292	0.6404	-50	c.-12 others(71): Show c.-125-35454_-125-35405delGTGAGTGATGAGTGGTGAGTGAGT GATGAGTGGTGAGTGAGTGGTGAGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45861400	TGCCCCAG others(43): Show TGCCCCAGCCAGCTGGGGCAACAGCCTGGGCCCTTGCCAGCCTGGGTGCC A	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0033 a0001c0002t0006g0033	1	292	0.0034	-50	c.10+ others(67): Show c.10+11312_10+11361delGCCAGCTGGGGCAACAGCCTGGGCCCTT GCCAGCCTGGGTGCCAGCCCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	54307054	ATATATAT others(43): Show ATATATATATATATATATATATATATACATATATATATATGTGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	102	0.0098	-50	c.876 others(69): Show c.876+10167_876+10216delCACACACACACATATATATATATGTA TATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307054	ATATATAT others(43): Show ATATATATATATATATATATATATATACATATATATATATGTGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0022 a0022	a0022c0039 a0022c0039	a0022c0039t0001 a0022c0039t0001	a0022c0039t0001g0093 a0022c0039t0001g0093	1	94	0.0106	-50	c.876 others(69): Show c.876+10167_876+10216delCACACACACACATATATATATATGTA TATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCGF3_chr4_700832_775089	731848	TCCCCTCC others(43): Show TCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCT C	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18984.hp2 NA18999.hp2 NA18945.hp2 NA18984.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0309 a0001c0001t0007g0002 a0001c0001t0007g0309	3	366	0.0082	-50	c.-10 others(65): Show c.-10+842_-10+891delCTCCCCTCGTGGGTGGGCGTGGTCCTCAGG GGCGTAGGGCGGGGCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK4_chr19_1476428_1495350	1482605	TTGCACAC others(43): Show TTGCACACCTACTGTGCGCCTGTCACTGGACACCGACATCTCCCGGGTGA C	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	400	0.0025	-50	c.169 others(67): Show c.1697-180_1697-131delGTCACCCGGGAGATGTCGGTGTCCAGTG ACAGGCGCACAGTAGGTGTGCA	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding	13/14			chr19	TogoVar
PCSK6_chr15_101298933_101494707	101309833	CCGGCCCC others(43): Show CCGGCCCCTCTCTTAGGGAACTTATCGTGCATTGTTCTCAGCGTCGGGCC T	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0187 a0001c0002t0005g0187	1	336	0.0030	-50	c.270 others(69): Show c.2700-2558_2700-2509delAGGCCCGACGCTGAGAACAATGCACG ATAAGTTCCCTAAGAGAGGGGCCG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312089	ACCCTCAC others(43): Show ACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA C	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0050 a0001c0003t0002g0050	1	336	0.0030	-50	c.269 others(69): Show c.2699+1237_2699+1286delGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD1_chr2_241844884_241863894	241846943	GTGAGTTC others(43): Show GTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	407	0.0025	-50	c.40 others(61): Show c.4065_*4114delAGGCTCTCAAACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2940		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847134	ATGAGAGC others(43): Show ATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03041.hp1 HG03486.hp2 others(1): Show HG01496.hp1 HG03041.hp1 HG03486.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0003c0008t0001g0049	4	407	0.0098	-50	c.38 others(61): Show c.3874_*3923delAACACCCATTCACAGCGCAGCGCGCCAGCATCCA GAACTCAAGGCTCTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2749		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847173	TGAATGGG others(43): Show TGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTG A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp1 HG03927.hp1 others(1): Show HG02258.hp2 HG03471.hp1 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0123 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0123	4	407	0.0098	-50	c.38 others(61): Show c.3835_*3884delTCAGCGCAGCGCGCCAGCATCCAGAACTCAAGGC TCTCAAACACCCATTC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2710		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847638	AAGCCTTG others(43): Show AAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTATGA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(84): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18961.hp2 NA18980.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA19001.hp1 NA19004.hp1 NA19010.hp1 NA19070.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 others(1): Show a0001c0001 a0001c0006 a0001c0010 a0001c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0006g0011 a0001c0001t0008g0028 a0001c0001t0008g0095 a0001c0001t0008g0096 a0001c0006t0001g0057 a0001c0006t0001g0069 a0001c0010t0001g0079 a0001c0013t0001g0075	87	407	0.2138	-50	c.33 others(61): Show c.3370_*3419delCTCATACACCCATTCACAGCGCAGCGCGCCAGCA TCCAGAACTCAAGGCT	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2245		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847934	TTGAGAGC others(43): Show TTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAATGGATGA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03471.hp1 HG03927.hp1 others(1): Show HG02258.hp2 HG03471.hp1 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0123 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0016g0123	4	407	0.0098	-50	c.30 others(61): Show c.3074_*3123delTTCATCCATTGACAGCGCAGCGCGCCAGCATCCA GAACTCAAGGCTCTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1949		chr2	TogoVar
PDCL2_chr4_55551519_55597245	55565886	AACCCATT others(43): Show AACCCATTGTGTGGTTACAAAAACATAAATTAACAGCTGTCCTTCAACTT T	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02896.hp2 others(3): Show HG02559.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0086 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089	6	376	0.0160	-50	c.363 others(67): Show c.363-3324_363-3275delAAAGTTGAAGGACAGCTGTTAATTTATG TTTTTGTAACCACACAATGGGT	PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	4/5			chr4	TogoVar
PDE11A_chr2_177618244_178077777	177946635	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp2 others(33): Show HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01169.hp2 HG01258.hp1 HG01978.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03579.hp2 HG03942.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18966.hp2 NA19060.hp1 NA19065.hp2 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0011 a0013	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0002c0002 a0002c0004 a0003c0008 a0004c0007 a0008c0025 a0011c0019 a0013c0031	a0001c0001t0017 a0001c0001t0025 a0001c0003t0002 others(23): Show a0001c0001t0017 a0001c0001t0025 a0001c0003t0002 a0001c0003t0003 a0001c0003t0016 a0001c0003t0029 a0001c0003t0030 a0001c0003t0032 a0001c0005t0053 a0001c0005t0065 a0001c0017t0002 a0002c0002t0001 a0002c0004t0001 a0002c0004t0004 a0002c0004t0020 a0002c0004t0039 a0002c0004t0040 a0002c0004t0044 a0003c0008t0010 a0003c0008t0017 a0003c0008t0050 a0004c0007t0003 a0004c0007t0011 a0008c0025t0048 a0011c0019t0001 a0013c0031t0001	a0001c0001t0017g0095 a0001c0001t0025g0096 a0001c0001t0025g0103 others(33): Show a0001c0001t0017g0095 a0001c0001t0025g0096 a0001c0001t0025g0103 a0001c0003t0002g0128 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0016g0093 a0001c0003t0029g0132 a0001c0003t0030g0123 a0001c0003t0032g0120 a0001c0005t0053g0015 a0001c0005t0065g0017 a0001c0017t0002g0014 a0002c0002t0001g0094 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0124 a0002c0004t0001g0139 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0004g0116 a0002c0004t0020g0131 a0002c0004t0020g0136 a0002c0004t0039g0118 a0002c0004t0040g0129 a0002c0004t0044g0114 a0003c0008t0010g0166 a0003c0008t0017g0162 a0003c0008t0050g0163 a0004c0007t0003g0158 a0004c0007t0003g0159 a0004c0007t0003g0160 a0004c0007t0011g0161 a0008c0025t0048g0097 a0011c0019t0001g0113 a0013c0031t0001g0164	36	170	0.2118	-50	c.107 others(71): Show c.1072-41498_1072-41449delCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE6B_chr4_620573_675782	635174	CGTCCACC others(43): Show CGTCCACCTCCTTACCTGCCTGCCCGCCTGCCCGCGTGTTCTGTGCTGCG T	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00621.hp2 others(19): Show HG00408.hp1 HG00423.hp2 HG00621.hp2 HG02074.hp1 HG02523.hp1 HG02809.hp1 HG02922.hp2 HG03195.hp1 HG04184.hp2 NA18943.hp2 NA18959.hp2 NA18969.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0001c0029 others(2): Show a0001c0001 a0001c0012 a0001c0029 a0003c0006 a0003c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0012t0003 a0001c0029t0001 a0003c0006t0001 a0003c0006t0002 a0003c0006t0007 a0003c0010t0002 a0003c0010t0003	a0001c0001t0002g0018 a0001c0001t0002g0112 a0001c0001t0002g0190 others(18): Show a0001c0001t0002g0018 a0001c0001t0002g0112 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0258 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0004g0196 a0001c0012t0003g0024 a0001c0012t0003g0025 a0001c0029t0001g0026 a0003c0006t0001g0019 a0003c0006t0002g0100 a0003c0006t0007g0019 a0003c0006t0007g0208 a0003c0010t0002g0205 a0003c0010t0002g0206 a0003c0010t0003g0207	22	308	0.0714	-50	c.621 others(65): Show c.621+377_621+426delCGCGTGTTCTGTGCTGCGTGTCCACCTCCT TACCTGCCTGCCCGCCTGCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	635479	CCCTGCCT others(43): Show CCCTGCCTGCCTGCCCGTGTGTTCTGTGCTGTGCGTCCACCTCCTTACCT G	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0059 a0001c0002t0004g0059	1	308	0.0033	-50	c.622 others(65): Show c.622-384_622-335delTGTGTTCTGTGCTGTGCGTCCACCTCCTTA CCTGCCTGCCTGCCTGCCCG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	651223	GGCAGTGG others(43): Show GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC A	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG01517.hp1 others(3): Show HG00642.hp2 HG01358.hp2 HG01517.hp1 HG02622.hp2 HG02683.hp1 HG03490.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0007 a0007c0028 a0001c0001 a0004c0007 a0007c0028	a0001c0001t0002 a0001c0001t0006 a0004c0007t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0004c0007t0008 a0007c0028t0008	a0001c0001t0002g0175 a0001c0001t0006g0255 a0004c0007t0008g0252 others(3): Show a0001c0001t0002g0175 a0001c0001t0006g0255 a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 a0007c0028t0008g0256	6	308	0.0195	-50	c.712 others(67): Show c.712-2594_712-2545delGGCGGCGATGTCAACAGCAGTGGGGCCG TCACAGGCGGGGCAGGGGCTGA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE9A_chr21_42648621_42780509	42670359	CACACACA others(43): Show CACACACACATTCACACACATTCACATTTACATTCACAAACATTCACACA T	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	324	0.0031	-50	c.70- others(67): Show c.70-15829_70-15780delCACACATTCACACACATTCACATTTACA TTCACAAACATTCACACATACA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42670375	CACATTCA others(43): Show CACATTCACATTTACATTCACAAACATTCACACATACATTCACACGCACT T	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	324	0.0031	-50	c.70- others(67): Show c.70-15813_70-15764delTTCACATTTACATTCACAAACATTCACA CATACATTCACACGCACTTACA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFRA_chr4_54224293_54303245	54276282	TGAGTAAT others(43): Show TGAGTAATAGCAGAATAGTAGAAATTCCCCCAGTTTCAGAGACACTGATT C	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02809.hp1 others(7): Show HG02109.hp1 HG02559.hp1 HG02809.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 others(7): Show a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029	10	300	0.0333	-50	c.178 others(69): Show c.1787-1096_1787-1047delCAGAATAGTAGAAATTCCCCCAGTTT CAGAGACACTGATTCGAGTAATAG	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDHX_chr11_34911618_35001128	34995435	AAAGGGAA others(43): Show AAAGGGAATATTAAACTAGATGTAAATCAAAGTATATGTTTGGCTCATTT G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0191 a0001c0002t0014g0191	1	314	0.0032	-50	c.26 others(59): Show c.265_*314delAGGGAATATTAAACTAGATGTAAATCAAAGTATATG TTTGGCTCATTTGA	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	11/11	265	INFO_REALIGN_3_PRIME	chr11	TogoVar
PDXK_chr21_43714129_43767299	43731656	TGTTGTGG others(43): Show TGTTGTGGAGAGCCCAGCAGCCCGCTGGGCTGAACCTTGGACCAAGAACC A	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 NA18906.hp1 HG02055.hp1 HG02647.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0196 a0001c0001t0026g0023 a0001c0001t0026g0195 a0001c0001t0004g0196 a0001c0001t0026g0023 a0001c0001t0026g0195	3	358	0.0084	-50	c.88- others(65): Show c.88-2410_88-2361delTGTGGAGAGCCCAGCAGCCCGCTGGGCTGA ACCTTGGACCAAGAACCAGT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31849988	ATATACAC others(43): Show ATATACACATATATATATATACACACACACGTATATACTCATATATACAC G	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp1 HG02055.hp2 others(8): Show HG01358.hp1 HG01884.hp1 HG02055.hp2 HG02622.hp2 HG02717.hp2 HG03195.hp2 HG06807.hp1 NA18522.hp1 NA18953.hp2 NA19085.hp2 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0031	a0001c0001 a0001c0007 a0001c0062 others(5): Show a0001c0001 a0001c0007 a0001c0062 a0002c0002 a0002c0003 a0004c0006 a0006c0016 a0031c0030	a0001c0001t0001 a0001c0001t0008 a0001c0007t0009 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0007t0009 a0001c0062t0003 a0002c0002t0018 a0002c0003t0002 a0004c0006t0007 a0006c0016t0001 a0031c0030t0033	a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0081 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0008g0181 a0001c0007t0009g0172 a0001c0062t0003g0029 a0002c0002t0018g0158 a0002c0003t0002g0171 a0004c0006t0007g0201 a0006c0016t0001g0061 a0031c0030t0033g0064	11	216	0.0509	-50	c.476 others(69): Show c.476+50269_476+50318delCACATATATATATATACACACACACG TATATACTCATATATACACGTATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017863	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0096 a0004c0004t0011g0096	1	432	0.0023	-50	c.152 others(67): Show c.1522+186_1522+235delTCTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PEAK1_chr15_77103158_77425104	77300542	ACACCCAG others(43): Show ACACCCAGTTTCTCCAATTACGAACATTTTACATTAGTATGATACCTTTG T	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0022	a0003c0003t0022g0177 a0003c0003t0022g0177	1	326	0.0031	-50	c.-60 others(71): Show c.-602-14088_-602-14039delACAAAGGTATCATACTAATGTAAA ATGTTCGTAATTGGAGAAACTGGGTG	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156911154	TTTTCTTT others(43): Show TTTTCTTTCTTTCTTTCCTTTCTTTTCTTTCTTCTTTCTTTCTTTCTTTT C	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0018 a0018	a0018c0055 a0018c0055	a0018c0055t0001 a0018c0055t0001	a0018c0055t0001g0131 a0018c0055t0001g0131	1	384	0.0026	-50	c.195 others(67): Show c.1951+436_1951+485delTCTTTCTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCCTTTCTTT	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEMT_chr17_17500563_17596708	17586197	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02572.hp2 HG02818.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0007 a0005c0006t0001g0008	2	348	0.0058	-50	c.96+ others(65): Show c.96+5284_96+5333delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTCTTTCTTTC	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	TGTGTTTT others(43): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG02976.hp2 others(1): Show HG02258.hp2 HG02965.hp1 HG02976.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0028 a0001c0002t0035 a0001c0001t0027 a0001c0001t0028 a0001c0002t0035	a0001c0001t0027g0029 a0001c0001t0027g0030 a0001c0001t0028g0027 others(1): Show a0001c0001t0027g0029 a0001c0001t0027g0030 a0001c0001t0028g0027 a0001c0002t0035g0025	4	432	0.0093	-50	c.77- others(65): Show c.77-2763_77-2714delATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar

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