Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PGM2_chr4_37821686_37867937	37841100	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	446	0.0022	24	c.719 others(39): Show c.719+842_719+843insATATATATATATATATATATATGT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGM5_chr9_68351611_68536061	68356406	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0085 a0001c0001t0018g0085	1	246	0.0041	24	c.-72 others(33): Show c.-722_-721insACACACACACACACACACACACAC	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding		204		chr9	TogoVar
PGM5_chr9_68351611_68536061	68415779	A A	ATATCTAT others(17): Show ATATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG02145.hp2 others(6): Show HG00408.hp2 HG01106.hp1 HG02145.hp2 HG02523.hp1 HG02723.hp1 NA18963.hp1 NA18968.hp1 NA18982.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0096 a0001c0001t0002g0082 a0001c0001t0007g0162 others(6): Show a0001c0001t0001g0096 a0001c0001t0002g0082 a0001c0001t0007g0162 a0001c0002t0002g0010 a0001c0002t0002g0027 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0058 a0001c0002t0008g0034	9	246	0.0366	24	c.104 others(45): Show c.1043+23320_1043+23343dupATCTATCTATCTATCTATCTATCT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02976.hp1 others(2): Show HG01884.hp1 HG02717.hp2 HG02976.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0139 a0001c0001t0162 others(2): Show a0001c0001t0043 a0001c0001t0139 a0001c0001t0162 a0001c0001t0218 a0001c0001t0219	a0001c0001t0043g0295 a0001c0001t0139g0300 a0001c0001t0162g0289 others(2): Show a0001c0001t0043g0295 a0001c0001t0139g0300 a0001c0001t0162g0289 a0001c0001t0218g0031 a0001c0001t0219g0031	5	412	0.0121	24	c.-19 others(35): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		1865		chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18363033	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0168	a0001c0001t0168g0080 a0001c0001t0168g0080	1	412	0.0024	24	c.438 others(39): Show c.438-346_438-323dupGTGTGTGTGTGTGTGTGTGTGTGT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTGGCTT others(17): Show GCTGGCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0160	a0001c0001t0160g0288 a0001c0001t0160g0288	1	412	0.0024	24	c.50 others(33): Show c.502_*503insGGCTTTCTTTCTTTCTTTCTTTCT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	503	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTGCTT others(17): Show GCTTGCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0207 a0001c0001t0207	a0001c0001t0207g0148 a0001c0001t0207g0148	1	412	0.0024	24	c.50 others(33): Show c.503_*504insGCTTTCTTTCTTTCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	504	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTTCTT others(17): Show GCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01884.hp2 others(10): Show HG00733.hp1 HG00741.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG02145.hp1 HG02630.hp2 HG02738.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0231 a0001c0001t0232 a0001c0001t0233 others(10): Show a0001c0001t0231 a0001c0001t0232 a0001c0001t0233 a0001c0001t0234 a0001c0001t0235 a0001c0001t0236 a0001c0001t0237 a0001c0001t0238 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241 a0001c0001t0242 a0001c0001t0243	a0001c0001t0231g0357 a0001c0001t0232g0155 a0001c0001t0233g0132 others(10): Show a0001c0001t0231g0357 a0001c0001t0232g0155 a0001c0001t0233g0132 a0001c0001t0234g0134 a0001c0001t0235g0034 a0001c0001t0236g0131 a0001c0001t0237g0130 a0001c0001t0238g0153 a0001c0001t0239g0003 a0001c0001t0240g0298 a0001c0001t0241g0016 a0001c0001t0242g0301 a0001c0001t0243g0042	13	412	0.0316	24	c.50 others(33): Show c.508_*531dupTCTTTCTTTCTTTCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364085	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(11): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00673.hp2 HG01975.hp1 HG02165.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp2 NA18985.hp1 NA19000.hp2 NA19003.hp2 NA19068.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 others(8): Show a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119	a0001c0001t0027g0248 a0001c0001t0027g0279 a0001c0001t0028g0002 others(11): Show a0001c0001t0027g0248 a0001c0001t0027g0279 a0001c0001t0028g0002 a0001c0001t0028g0218 a0001c0001t0029g0242 a0001c0001t0029g0247 a0001c0001t0112g0282 a0001c0001t0113g0255 a0001c0001t0114g0009 a0001c0001t0115g0009 a0001c0001t0116g0227 a0001c0001t0117g0274 a0001c0001t0118g0284 a0001c0001t0119g0197	14	412	0.0340	24	c.50 others(33): Show c.504_*505insTCTTTCTTTCTTTCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	505	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364103	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTCTTTCTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0361 a0001c0001t0141g0361	1	412	0.0024	24	c.53 others(33): Show c.531_*532insTCTTTCTTTCTTGCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGR_chr11_101024624_101134813	101053505	C C	CTCCCTCC others(17): Show CTCCCTCCCCTTCTCCCTCCTTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02976.hp2 others(1): Show HG02258.hp2 HG02647.hp1 HG02976.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0048 a0001c0002t0049 a0003c0005t0052 others(1): Show a0001c0002t0048 a0001c0002t0049 a0003c0005t0052 a0003c0005t0053	a0001c0002t0048g0079 a0001c0002t0049g0080 a0003c0005t0052g0169 others(1): Show a0001c0002t0048g0079 a0001c0002t0049g0080 a0003c0005t0052g0169 a0003c0005t0053g0166	4	254	0.0158	24	c.221 others(43): Show c.2213-1961_2213-1938dupAGAAAGGAGGGAGAAGGGGAGGGA	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	4/7			chr11	TogoVar
PHACTR1_chr6_12711767_13292837	13000614	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG02572.hp1 others(9): Show HG01109.hp1 HG02280.hp1 HG02572.hp1 HG02717.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0082 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0059 a0001c0001t0005g0064 a0001c0001t0008g0106 a0001c0002t0002g0026	12	108	0.1111	24	c.251 others(43): Show c.251-52747_251-52724dupAAGGAAGGAAGGAAGGAAGGAAGG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13003963	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02300.hp1 HG02922.hp1 others(1): Show HG01109.hp1 HG02300.hp1 HG02922.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0002g0015 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0003g0066	4	108	0.0370	24	c.251 others(43): Show c.251-49401_251-49400insATATATATATATATATATATATGT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13193357	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp1 HG01433.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0077 a0001c0001t0003g0041 a0001c0001t0003g0077	2	108	0.0185	24	c.664 others(43): Show c.664+10676_664+10699dupTATATATATATATATATATATATA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	108	0.0093	24	c.665 others(43): Show c.665-10035_665-10034insAAAAAAAAAAAAAAAAAAAAAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13284548	A A	ATATATAT others(17): Show ATATATATATATATATAGATACACG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	108	0.0093	24	c.165 others(43): Show c.1650+1002_1650+1003insGATACACGTATATATATATATATA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143704095	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG03239.hp2 others(4): Show HG01256.hp1 HG01258.hp1 HG03239.hp2 NA18612.hp2 NA18960.hp1 NA19063.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0048 a0001c0001t0085 a0001c0003t0002	a0001c0001t0001g0184 a0001c0001t0007g0206 a0001c0001t0009g0185 others(4): Show a0001c0001t0001g0184 a0001c0001t0007g0206 a0001c0001t0009g0185 a0001c0001t0013g0169 a0001c0001t0048g0202 a0001c0001t0085g0183 a0001c0003t0002g0212	7	310	0.0226	24	c.47- others(39): Show c.47-7906_47-7905insCTGTGTGTGTGTGTGTGTGTGTGT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143771158	G G	GTATATAT others(17): Show GTATATATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0255 a0002c0002t0023g0255	1	310	0.0032	24	c.123 others(43): Show c.1233-1087_1233-1086insGTGTATATATATATATATATATAT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59622981	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp2 HG02165.hp1 others(11): Show HG00558.hp1 HG01109.hp2 HG02165.hp1 HG02486.hp2 HG02602.hp2 HG03195.hp1 HG03579.hp2 NA18962.hp1 NA18964.hp1 NA18975.hp2 NA19012.hp1 NA19058.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0088 a0001c0001t0001g0181 a0001c0001t0001g0182 others(11): Show a0001c0001t0001g0088 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0239 a0001c0001t0002g0002 a0001c0001t0003g0090 a0001c0001t0003g0247 a0001c0001t0004g0184 a0001c0001t0005g0169 a0001c0001t0007g0089 a0002c0002t0001g0013	14	250	0.0560	24	c.118 others(43): Show c.118+17869_118+17870insAAAAAAAAAAAAAAAAAAAAAAAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59752559	T T	TCCTGCAA others(17): Show TCCTGCAAGAAGTCCTTGCAGAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(157): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp2 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0003c0004 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0003t0007 a0001c0003t0018 a0001c0007t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0003c0004t0001 a0004c0006t0001 a0005c0008t0020	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 others(157): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0157 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0086 a0001c0001t0003g0092 a0001c0001t0003g0110 a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0247 a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0004g0016 a0001c0001t0004g0041 a0001c0001t0004g0052 a0001c0001t0004g0057 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0097 a0001c0001t0004g0133 a0001c0001t0004g0186 a0001c0001t0004g0199 a0001c0001t0005g0055 a0001c0001t0005g0113 a0001c0001t0005g0153 a0001c0001t0005g0168 a0001c0001t0005g0219 a0001c0001t0006g0022 a0001c0001t0006g0069 a0001c0001t0006g0074 a0001c0001t0006g0156 a0001c0001t0007g0089 a0001c0001t0007g0118 a0001c0001t0007g0134 a0001c0001t0008g0209 a0001c0001t0009g0024 a0001c0001t0009g0214 a0001c0001t0010g0020 a0001c0001t0012g0006 a0001c0001t0012g0007 a0001c0001t0014g0208 a0001c0001t0016g0068 a0001c0001t0017g0046 a0001c0001t0019g0242 a0001c0003t0007g0087 a0001c0003t0018g0065 a0001c0007t0001g0155 a0002c0002t0001g0013 a0002c0002t0003g0059 a0002c0002t0008g0225 a0003c0004t0001g0096 a0003c0004t0001g0248 a0004c0006t0001g0151 a0005c0008t0020g0144	160	250	0.6400	24	c.359 others(41): Show c.359-2612_359-2589dupGTCCTTGCAGAAAACCTGCAAGAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR4_chr1_28364740_28505364	28447002	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0220 a0001c0003t0019g0220	1	228	0.0044	24	c.17- others(41): Show c.17-12078_17-12055dupTTTATTTATTTATTTATTTATTTA	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHAX_chr5_126595947_126632252	126604274	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0039 a0001c0001t0042g0039	1	382	0.0026	24	c.710 others(39): Show c.710+110_710+111insTTTTTTTTTTTTTTTTTTTTTTTT	PHAX	ENSG00000164902.14	transcript	ENST00000297540.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
PHC2_chr1_33318626_33436095	33356249	T T	TTATATAT others(17): Show TTATATATATATATATATATACGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18952.hp1 NA19056.hp2 HG04228.hp2 NA18952.hp1 NA19056.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0035 a0002c0004t0004g0038 a0002c0004t0004g0029 a0002c0004t0004g0035 a0002c0004t0004g0038	3	370	0.0081	24	c.977 others(39): Show c.977-997_977-996insTACGTATATATATATATATATATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHC2_chr1_33318626_33436095	33356251	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	370	0.0027	24	c.977 others(39): Show c.977-999_977-998insCATATATATATATATATATATATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHC2_chr1_33318626_33436095	33356273	A A	ATATATAT others(17): Show ATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19060.hp1 NA19078.hp1 others(1): Show HG01981.hp2 NA19060.hp1 NA19078.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0013 a0002c0004t0004 a0002c0004t0013	a0002c0004t0004g0015 a0002c0004t0004g0020 a0002c0004t0004g0027 others(1): Show a0002c0004t0004g0015 a0002c0004t0004g0020 a0002c0004t0004g0027 a0002c0004t0013g0013	4	370	0.0108	24	c.977 others(41): Show c.977-1021_977-1020insCGTATATATATATATATATATATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHC2_chr1_33318626_33436095	33356275	A A	ATATATAT others(17): Show ATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp2 HG01516.hp2 others(3): Show HG00621.hp2 HG01099.hp2 HG01516.hp2 HG04204.hp2 NA18968.hp1 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0018 a0002c0004t0004g0024 a0002c0004t0004g0042 others(3): Show a0002c0004t0004g0018 a0002c0004t0004g0024 a0002c0004t0004g0042 a0002c0004t0004g0059 a0002c0004t0004g0060 a0002c0004t0004g0061	6	370	0.0162	24	c.977 others(41): Show c.977-1023_977-1022insCGTATATATATATATATATATATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHC2_chr1_33318626_33436095	33356275	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp1 HG02523.hp1 HG00621.hp1 HG02132.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0192 a0001c0003t0003g0209 a0001c0003t0003g0213 a0001c0003t0003g0192 a0001c0003t0003g0209 a0001c0003t0003g0213	3	370	0.0081	24	c.977 others(41): Show c.977-1023_977-1022insCATATATATATATATATATATATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHC3_chr3_170082584_170186733	170111394	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18985.hp1 HG02027.hp2 NA18985.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0014 a0001c0002 a0004c0014	a0001c0002t0044 a0004c0014t0005 a0001c0002t0044 a0004c0014t0005	a0001c0002t0044g0316 a0004c0014t0005g0321 a0001c0002t0044g0316 a0004c0014t0005g0321	2	332	0.0060	24	c.235 others(43): Show c.2353+1942_2353+1965dupTCCTTCCTTCCTTCCTTCCTTCCT	PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	11/14			chr3	TogoVar
PHC3_chr3_170082584_170186733	170115877	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0326 a0001c0002t0005g0326	1	332	0.0030	24	c.219 others(43): Show c.2193+1325_2193+1348dupTGTGTGTGTGTGTGTGTGTGTGTG	PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	10/14			chr3	TogoVar
PHC3_chr3_170082584_170186733	170126504	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0101 a0001c0001t0045g0101	1	332	0.0030	24	c.178 others(43): Show c.1788+2179_1788+2180insTATATATATATATATATATATACA	PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	8/14			chr3	TogoVar
PHEX_chrX_22027325_22256310	22041265	C C	CTCTCTCT others(17): Show CTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0121 a0001c0001t0124g0121	1	231	0.0043	24	c.187 others(41): Show c.187+2729_187+2730insCTCTCTATATATATATATATATAT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	2/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22209693	C C	CCTCCCTC others(17): Show CCTCCCTCTCCCTCTCTTCCCTCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp1 HG01168.hp1 others(21): Show HG00609.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01981.hp2 HG02293.hp2 HG02602.hp1 HG03239.hp2 HG03490.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0052 a0001c0001t0056 a0001c0001t0057 a0001c0001t0092 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0142 a0001c0001t0147 a0001c0001t0149	a0001c0001t0001g0208 a0001c0001t0002g0097 a0001c0001t0006g0111 others(21): Show a0001c0001t0001g0208 a0001c0001t0002g0097 a0001c0001t0006g0111 a0001c0001t0008g0216 a0001c0001t0012g0081 a0001c0001t0014g0210 a0001c0001t0015g0174 a0001c0001t0015g0228 a0001c0001t0026g0178 a0001c0001t0028g0231 a0001c0001t0035g0142 a0001c0001t0038g0161 a0001c0001t0040g0217 a0001c0001t0042g0129 a0001c0001t0052g0213 a0001c0001t0056g0124 a0001c0001t0057g0152 a0001c0001t0092g0112 a0001c0001t0106g0108 a0001c0001t0107g0084 a0001c0001t0109g0054 a0001c0001t0142g0025 a0001c0001t0147g0035 a0001c0001t0149g0017	24	231	0.1039	24	c.164 others(43): Show c.1646-3202_1646-3179dupCCCTCTCTTCCCTCTGCTCCCTCT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22249208	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0011 a0001c0001t0161g0011	1	231	0.0043	24	c.12 others(35): Show c.1264_*1287dupGTGTGTGTGTGTGTGTGTGTGTGT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1288	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0122 a0001c0001t0134g0122	1	231	0.0043	24	c.15 others(35): Show c.1503_*1504insAAAATATATATATATATATATATA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1504	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0169 a0001c0001t0055g0169	1	231	0.0043	24	c.15 others(35): Show c.1511_*1534dupATATATATATATATATATATATAT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1535	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF12_chr17_28900250_28956518	28903671	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18612.hp2 NA18971.hp1 HG01433.hp1 NA18612.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0059 a0001c0001t0001g0189 a0001c0001t0001g0008 a0001c0001t0001g0059 a0001c0001t0001g0189	3	232	0.0129	24	c.25 others(35): Show c.2511_*2512insGGAAGGAAGGAAGGAAGGAAGGAA	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding		1578		chr17	TogoVar
PHF12_chr17_28900250_28956518	28903702	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	232	0.0086	24	c.24 others(35): Show c.2480_*2481insAAGGGAAGGAAGGAAGGAAGGAAG	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding		1547		chr17	TogoVar
PHF12_chr17_28900250_28956518	28923651	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19009.hp2 HG02622.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0092 a0001c0001t0001g0100	2	232	0.0086	24	c.715 others(39): Show c.715+257_715+258insTTTTTTTTTTTTTTTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	232	0.0043	24	c.715 others(39): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF14_chr7_10968872_11174618	11122331	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	298	0.0034	24	c.277 others(45): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	298	0.0034	24	c.277 others(45): Show c.2772+10886_2772+10887insTATATATATATATATATACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11153939	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	298	0.0034	24	c.277 others(45): Show c.2773-15469_2773-15468insTGTGTGTGTGTGTGTGTGTGTGTG	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11161668	C C	CTAAATAA others(17): Show CTAAATAAAAATATTATATTTTATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00733.hp2 others(35): Show HG00438.hp1 HG00558.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01346.hp2 HG01928.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02257.hp1 HG02572.hp1 HG02886.hp1 HG02965.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp1 NA18943.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18995.hp2 NA19003.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp1 NA19082.hp2 NA19083.hp1 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0004t0005 a0001c0007t0001	a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0149 others(35): Show a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0006g0196 a0001c0002t0001g0028 a0001c0002t0001g0102 a0001c0002t0001g0109 a0001c0004t0005g0190 a0001c0004t0005g0191 a0001c0007t0001g0120 a0001c0007t0001g0166	38	298	0.1275	24	c.277 others(43): Show c.2773-7685_2773-7662dupATATTTTATTTAAATAAAAATATT	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF20_chr20_35767015_35955370	35904767	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp1 NA20752.hp2 HG02451.hp2 HG03225.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0077 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0077	3	206	0.0146	24	c.156 others(43): Show c.1561+5133_1561+5156dupCCTTCCTTCCTTCCTTCCTTCCTT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02080.hp2 HG01258.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0060 a0001c0001t0003 a0001c0001t0060	a0001c0001t0003g0155 a0001c0001t0060g0102 a0001c0001t0003g0155 a0001c0001t0060g0102	2	280	0.0071	24	c.997 others(41): Show c.997-4795_997-4794insATATATATATATATTTTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	280	0.0036	24	c.997 others(41): Show c.997-4795_997-4794insATATATATATATATATTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45971890	C C	CTTTCTTT others(17): Show CTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01517.hp2 others(15): Show HG00323.hp1 HG00621.hp1 HG01517.hp2 HG02004.hp1 HG02004.hp2 HG02083.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18953.hp1 NA18953.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0027 a0001c0001t0056 a0001c0001t0059 a0001c0001t0061 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0180 others(15): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0180 a0001c0001t0001g0203 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0003g0137 a0001c0001t0004g0099 a0001c0001t0008g0060 a0001c0001t0009g0067 a0001c0001t0027g0004 a0001c0001t0056g0241 a0001c0001t0059g0181 a0001c0001t0061g0168 a0002c0002t0002g0026 a0003c0004t0001g0174	18	280	0.0643	24	c.361 others(39): Show c.361-524_361-523insAAAAAAAAAAAAAAAAAAAAGAAA	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	7/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45986084	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG00741.hp1 others(21): Show HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01168.hp2 HG01516.hp2 HG01928.hp1 HG02074.hp1 HG02559.hp1 HG02602.hp1 HG02723.hp2 HG03654.hp1 NA18522.hp2 NA18942.hp2 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18985.hp1 NA18985.hp2 NA19067.hp1 NA19077.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0040 a0001c0001t0041 a0001c0001t0055 a0002c0002t0002 a0002c0002t0003 a0002c0002t0016	a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0211 others(21): Show a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0004g0098 a0001c0001t0009g0090 a0001c0001t0017g0035 a0001c0001t0040g0025 a0001c0001t0041g0063 a0001c0001t0055g0167 a0002c0002t0002g0031 a0002c0002t0002g0049 a0002c0002t0002g0069 a0002c0002t0003g0136 a0002c0002t0016g0041	24	280	0.0857	24	c.154 others(41): Show c.154-6142_154-6119dupGTGTGTGTGTGTGTGTGTGTGTGT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	6/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45987251	A A	AATGTATG others(17): Show AATGTATGTATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04184.hp1 NA18941.hp1 others(1): Show HG01109.hp2 HG04184.hp1 NA18941.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0028 a0001c0001t0068 others(1): Show a0001c0001t0004 a0001c0001t0028 a0001c0001t0068 a0002c0002t0002	a0001c0001t0004g0226 a0001c0001t0028g0003 a0001c0001t0068g0273 others(1): Show a0001c0001t0004g0226 a0001c0001t0028g0003 a0001c0001t0068g0273 a0002c0002t0002g0078	4	280	0.0143	24	c.154 others(41): Show c.154-7309_154-7286dupACATACATACATACATACATACAT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	6/18			chr11	TogoVar
PHF23_chr17_7230038_7244457	7233087	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01361.hp1 HG03130.hp2 others(5): Show HG00609.hp1 HG01361.hp1 HG03130.hp2 NA18522.hp2 NA18954.hp2 NA18994.hp2 NA19002.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006	8	394	0.0203	24	c.25 others(35): Show c.2538_*2539insTTTTTTTTTTTTTTTTTTTTTTTT	PHF23	ENSG00000040633.13	transcript	ENST00000320316.8	protein_coding		1950		chr17	TogoVar

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