Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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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	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
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG04184.hp2 HG01934.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0274 a0001c0001t0020g0223 a0001c0001t0001g0274 a0001c0001t0020g0223	2	30	0.0667	25	c.33 others(36): Show c.3395_*3396insAAAAAAAAAAAAAAAAAAAAAAAAA		PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding					1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01346.hp2 others(11): Show HG00438.hp1 HG01175.hp1 HG01346.hp2 HG01516.hp2 HG02735.hp1 HG02896.hp1 HG03209.hp2 HG03669.hp1 HG03834.hp2 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0083 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0112 a0001c0001t0002g0159 a0001c0001t0002g0182 a0001c0001t0002g0192 a0001c0001t0002g0218 a0001c0001t0003g0139 a0001c0001t0005g0063 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0002t0001g0052 a0001c0002t0003g0136	14	41	0.3415	25	c.120 others(44): Show c.1201+2429_1201+2430insTTTTTTTTTTTTTTTTTTTTTTTTT		PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
PIRT_chr17_10817470_10843087	10842931	T T	TGCTGGAA others(18): Show TGCTGGAACTGGTTACTGAGCCAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	452	0.0022	25	c.-51 others(36): Show c.-5126_-5125insTTTTGGCTCAGTAACCAGTTCCAGC		PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding					4845		chr17	TogoVar
PIR_chrX_15379799_15498333	15486298	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00597.hp1 others(19): Show HG00140.hp1 HG00438.hp2 HG00597.hp1 HG01167.hp1 HG01257.hp1 HG01891.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18956.hp1 NA18978.hp2 NA18990.hp1 NA19006.hp1 NA19062.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0002c0003t0003	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 others(19): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0003g0095 a0001c0002t0001g0017 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0003g0092 a0002c0003t0003g0018 a0002c0003t0003g0094	22	54	0.4074	25	c.96+ others(40): Show c.96+4863_96+4864insTTTTTTTTTTTTTTTTTTTTTTTTT		PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9						chrX	TogoVar
PITPNC1_chr17_67372281_67702256	67502744	C C	CATTGCAT others(18): Show CATTGCATTGTATTGTATTGTATTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG03139.hp1 HG02280.hp2 HG02630.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0057 a0001c0001t0007 a0001c0001t0010 a0001c0001t0057	a0001c0001t0007g0105 a0001c0001t0010g0113 a0001c0001t0057g0073 a0001c0001t0007g0105 a0001c0001t0010g0113 a0001c0001t0057g0073	3	56	0.0536	25	c.49- others(42): Show c.49-30054_49-30053insCATTGTATTGTATTGTATTGTATTG		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02280.hp2 HG02647.hp2 others(6): Show HG00280.hp1 HG02280.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029	a0001c0001t0005g0181 a0001c0001t0007g0105 a0001c0001t0007g0126 others(6): Show a0001c0001t0005g0181 a0001c0001t0007g0105 a0001c0001t0007g0126 a0001c0001t0010g0113 a0001c0001t0013g0197 a0001c0001t0017g0054 a0001c0001t0019g0099 a0001c0001t0022g0058 a0001c0001t0029g0068	9	57	0.1579	25	c.49- others(42): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67621180	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp2 others(12): Show HG00140.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02258.hp1 HG03195.hp1 HG06807.hp2 NA18943.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0042 a0001c0001t0071 a0001c0002t0018	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0007g0075 others(12): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0007g0075 a0001c0001t0009g0206 a0001c0001t0012g0004 a0001c0001t0014g0019 a0001c0001t0015g0012 a0001c0001t0016g0001 a0001c0001t0018g0059 a0001c0001t0022g0055 a0001c0001t0024g0114 a0001c0001t0027g0178 a0001c0001t0042g0103 a0001c0001t0071g0064 a0001c0002t0018g0056	15	25	0.6000	25	c.367 others(44): Show c.367-10941_367-10917dupTTTTATTTTATTTTATTTTATTTTA		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631645	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0218 a0001c0001t0014g0218	1	183	0.0055	25	c.367 others(40): Show c.367-498_367-497insTATATATATATATATATATATATAT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8						chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631647	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG02809.hp2 HG01358.hp2 HG01361.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0039g0094 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0039g0094	3	152	0.0197	25	c.367 others(40): Show c.367-496_367-495insTATATATATATATATATATATATAT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8						chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631653	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03453.hp1 HG01358.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0076 a0001c0001t0011g0208 a0001c0001t0006g0076 a0001c0001t0011g0208	2	107	0.0187	25	c.367 others(40): Show c.367-490_367-489insTATATATATATATATATATATATAT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8						chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01243.hp2 others(13): Show HG00438.hp2 HG00597.hp2 HG01243.hp2 HG01993.hp1 HG02015.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18969.hp1 NA18971.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0024 a0001c0001t0027 a0001c0001t0052 a0001c0001t0058	a0001c0001t0003g0028 a0001c0001t0004g0046 a0001c0001t0004g0128 others(13): Show a0001c0001t0003g0028 a0001c0001t0004g0046 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0148 a0001c0001t0004g0156 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0186 a0001c0001t0015g0012 a0001c0001t0015g0024 a0001c0001t0015g0027 a0001c0001t0024g0184 a0001c0001t0027g0178 a0001c0001t0052g0185 a0001c0001t0058g0096	16	58	0.2759	25	c.683 others(42): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAA		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM2_chr12_122978480_123156090	123029988	A A	ACAGACAC others(18): Show ACAGACACCCACAAAGAGGTGGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00673.hp2 others(57): Show HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01175.hp2 HG01256.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19067.hp1 NA19082.hp1 NA19090.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0015 a0004c0024 others(1): Show a0001c0001 a0001c0015 a0004c0024 a0008c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0015t0002 a0004c0024t0002 a0008c0023t0002	a0001c0001t0001g0151 a0001c0001t0001g0176 a0001c0001t0002g0004 others(56): Show a0001c0001t0001g0151 a0001c0001t0001g0176 a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0010g0175 a0001c0015t0002g0183 a0004c0024t0002g0197 a0008c0023t0002g0148	60	228	0.2632	25	c.78+ others(40): Show c.78+4500_78+4524dupCCTTCCACCTCTTTGTGGGTGTCTG		PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding	3/25						chr12	TogoVar
PITPNM2_chr12_122978480_123156090	123141549	A A	AGAAGAGC others(18): Show AGAAGAGCAGCCGTCTCCTGGAGAGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	228	0.0044	25	c.-20 others(44): Show c.-200+9179_-200+9203dupCCTCTCCAGGAGACGGCTGCTCTTC		PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding	1/25						chr12	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGCAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02280.hp2 HG03225.hp2 HG02280.hp2 HG03225.hp2	a0010 a0010	a0010c0034 a0010c0034	a0010c0034t0001 a0010c0034t0001	a0010c0034t0001g0145 a0010c0034t0001g0146 a0010c0034t0001g0145 a0010c0034t0001g0146	2	165	0.0121	25	c.271 others(32): Show c.271_272insCATTGCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037			chr10	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGGAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0015	a0001c0001 a0001c0002 a0001c0005 others(43): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0003c0008 a0003c0010 a0003c0035 a0003c0062 a0003c0063 a0003c0064 a0003c0065 a0003c0066 a0003c0067 a0006c0017 a0006c0060 a0015c0036	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(44): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0001 a0001c0013t0001 a0001c0015t0002 a0001c0016t0004 a0001c0019t0005 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0031t0003 a0001c0032t0001 a0001c0033t0001 a0001c0044t0002 a0001c0045t0002 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0004 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0003c0008t0001 a0003c0010t0001 a0003c0035t0001 a0003c0062t0001 a0003c0063t0001 a0003c0064t0001 a0003c0065t0001 a0003c0066t0001 a0003c0067t0001 a0006c0017t0001 a0006c0060t0001 a0015c0036t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0268 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0025 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0005t0002g0014 a0001c0005t0002g0015 a0001c0005t0002g0030 a0001c0005t0002g0052 a0001c0005t0002g0053 a0001c0005t0002g0212 a0001c0005t0002g0213 a0001c0005t0002g0214 a0001c0005t0002g0250 a0001c0005t0002g0252 a0001c0005t0002g0253 a0001c0005t0002g0254 a0001c0005t0002g0255 a0001c0005t0002g0258 a0001c0005t0002g0260 a0001c0005t0002g0262 a0001c0005t0002g0264 a0001c0005t0002g0265 a0001c0005t0002g0266 a0001c0005t0002g0267 a0001c0009t0001g0031 a0001c0009t0001g0083 a0001c0009t0001g0120 a0001c0009t0001g0132 a0001c0009t0001g0133 a0001c0009t0001g0135 a0001c0011t0001g0065 a0001c0011t0001g0067 a0001c0011t0001g0068 a0001c0011t0001g0081 a0001c0011t0001g0143 a0001c0011t0003g0082 a0001c0012t0001g0019 a0001c0012t0001g0131 a0001c0012t0001g0134 a0001c0013t0001g0024 a0001c0013t0001g0230 a0001c0013t0001g0244 a0001c0015t0002g0249 a0001c0015t0002g0256 a0001c0015t0002g0257 a0001c0015t0002g0261 a0001c0016t0004g0074 a0001c0016t0004g0075 a0001c0016t0004g0077 a0001c0016t0004g0078 a0001c0019t0005g0033 a0001c0019t0005g0121 a0001c0020t0001g0141 a0001c0020t0001g0142 a0001c0020t0001g0144 a0001c0021t0001g0066 a0001c0021t0001g0069 a0001c0021t0001g0101 a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 a0001c0028t0002g0054 a0001c0029t0001g0045 a0001c0030t0001g0051 a0001c0031t0003g0072 a0001c0031t0003g0073 a0001c0032t0001g0056 a0001c0033t0001g0032 a0001c0044t0002g0263 a0001c0045t0002g0259 a0001c0046t0001g0137 a0001c0047t0001g0235 a0001c0048t0001g0117 a0001c0049t0001g0109 a0001c0050t0001g0080 a0001c0051t0001g0246 a0001c0052t0001g0224 a0001c0053t0001g0084 a0001c0054t0004g0076 a0001c0055t0001g0140 a0001c0056t0001g0136 a0001c0057t0001g0079 a0001c0058t0001g0119 a0003c0008t0001g0060 a0003c0008t0001g0061 a0003c0008t0001g0292 a0003c0008t0001g0294 a0003c0008t0001g0295 a0003c0008t0001g0297 a0003c0008t0001g0298 a0003c0008t0001g0299 a0003c0010t0001g0059 a0003c0010t0001g0291 a0003c0010t0001g0300 a0003c0010t0001g0302 a0003c0010t0001g0305 a0003c0035t0001g0058 a0003c0062t0001g0296 a0003c0063t0001g0304 a0003c0064t0001g0306 a0003c0065t0001g0303 a0003c0066t0001g0293 a0003c0067t0001g0301 a0006c0017t0001g0284 a0006c0017t0001g0285 a0006c0017t0001g0286 a0006c0017t0001g0288 a0006c0060t0001g0287 a0015c0036t0002g0251	279	442	0.6312	25	c.271 others(32): Show c.271_272insCATTCCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037			chr10	TogoVar
PITRM1_chr10_3132728_3177782	3166388	A A	AGAGAGAG others(18): Show AGAGAGAGGAATGGCACGCTAGGGAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0018 a0018	a0018c0037 a0018c0037	a0018c0037t0001 a0018c0037t0001	a0018c0037t0001g0071 a0018c0037t0001g0071	1	444	0.0023	25	c.267 others(36): Show c.267-9_267-8insGTCCCTAGCGTGCCATTCCTCTCTC		PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	3/26						chr10	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01891.hp2 others(12): Show HG00438.hp1 HG00673.hp1 HG01891.hp2 HG02129.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18943.hp1 NA18962.hp2 NA18963.hp2 NA18975.hp1 NA18980.hp1 NA19064.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0028t0002 a0001c0001t0001 a0001c0028t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0028t0002g0054	15	21	0.7143	25	c.-18 others(36): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAA		PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding					1802		chr10	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 others(2): Show HG00738.hp2 HG01167.hp1 HG01169.hp2 NA19074.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0006 a0002c0016 others(1): Show a0001c0001 a0001c0006 a0002c0016 a0006c0009	a0001c0001t0001 a0001c0006t0001 a0002c0016t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0016t0001 a0006c0009t0001	a0001c0001t0001g0296 a0001c0006t0001g0284 a0002c0016t0001g0236 others(1): Show a0001c0001t0001g0296 a0001c0006t0001g0284 a0002c0016t0001g0236 a0006c0009t0001g0010	5	150	0.0333	25	c.103 others(40): Show c.103-792_103-791insTTTTTTTTTTTTTTTTTTTTTTTTT		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20						chr22	TogoVar
PJA2_chr5_109329722_109414974	109340617	T T	TCCCTCCC others(18): Show TCCCTCCCCCTCCCCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0052 a0003c0003t0002g0052	1	268	0.0037	25	c.200 others(44): Show c.2002-3286_2002-3262dupGGGAGGGGGAGGGGGAGGGGGAGGG		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18972.hp1 NA18979.hp1 NA18906.hp1 NA18972.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0047 a0002c0002t0001g0289 a0002c0002t0001g0006 a0002c0002t0001g0047 a0002c0002t0001g0289	3	28	0.1071	25	c.128 others(44): Show c.1284-4160_1284-4159insTTTTTTTTTTTTTTTTTTTTTTTTT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109372923	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	328	0.0030	25	c.128 others(44): Show c.1284-4178_1284-4177insCTTTTTTTTTTTTTTTTTTTTTTTT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9						chr5	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01192.hp1 others(14): Show HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01884.hp2 HG02074.hp2 HG02258.hp2 HG02451.hp2 HG02896.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03669.hp2 HG03831.hp2 NA18978.hp1 NA19060.hp1 NA19067.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0008 a0012 a0014 a0022 a0031 a0054	a0001c0008 a0002c0115 a0002c0156 others(7): Show a0001c0008 a0002c0115 a0002c0156 a0004c0011 a0008c0043 a0012c0016 a0014c0020 a0022c0146 a0031c0097 a0054c0166	a0001c0008t0001 a0002c0115t0001 a0002c0156t0001 others(7): Show a0001c0008t0001 a0002c0115t0001 a0002c0156t0001 a0004c0011t0002 a0008c0043t0002 a0012c0016t0002 a0014c0020t0001 a0022c0146t0001 a0031c0097t0001 a0054c0166t0001	a0001c0008t0001g0045 a0001c0008t0001g0051 a0001c0008t0001g0052 others(14): Show a0001c0008t0001g0045 a0001c0008t0001g0051 a0001c0008t0001g0052 a0001c0008t0001g0053 a0001c0008t0001g0054 a0002c0115t0001g0215 a0002c0156t0001g0278 a0004c0011t0002g0069 a0004c0011t0002g0079 a0004c0011t0002g0155 a0008c0043t0002g0094 a0012c0016t0002g0080 a0012c0016t0002g0194 a0014c0020t0001g0032 a0022c0146t0001g0246 a0031c0097t0001g0229 a0054c0166t0001g0255	17	185	0.0919	25	c.409 others(42): Show c.4093-321_4093-297dupAATAAAATAAAATAAAATAAAATAA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47902033	G G	GGAAAAGA others(18): Show GGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02486.hp2 others(7): Show HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA19240.hp2	a0001 a0015 a0024 others(3): Show a0001 a0015 a0024 a0029 a0030 a0059	a0001c0013 a0001c0038 a0015c0014 others(6): Show a0001c0013 a0001c0038 a0015c0014 a0015c0079 a0024c0031 a0024c0066 a0029c0065 a0030c0032 a0059c0070	a0001c0013t0001 a0001c0038t0001 a0015c0014t0001 others(6): Show a0001c0013t0001 a0001c0038t0001 a0015c0014t0001 a0015c0079t0001 a0024c0031t0001 a0024c0066t0001 a0029c0065t0003 a0030c0032t0001 a0059c0070t0001	a0001c0013t0001g0018 a0001c0038t0001g0022 a0015c0014t0001g0024 others(7): Show a0001c0013t0001g0018 a0001c0038t0001g0022 a0015c0014t0001g0024 a0015c0079t0001g0023 a0024c0031t0001g0012 a0024c0031t0001g0013 a0024c0066t0001g0010 a0029c0065t0003g0014 a0030c0032t0001g0011 a0059c0070t0001g0057	10	293	0.0341	25	c.206 others(42): Show c.2064+321_2064+345dupTTTTCTTTTCTTTTCTTTTCTTTTC		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	13/56						chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71946700	T T	TAAAGAAG others(18): Show TAAAGAAGTGGATTTGTGGGGCAGGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0060 a0004c0009t0001g0060	1	306	0.0033	25	c.371 others(42): Show c.3718+767_3718+791dupGCCTGCCCCACAAATCCACTTCTTT		PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29						chr16	TogoVar
PKD1_chr16_2083708_2140898	2104946	T T	TAGGGGAG others(18): Show TAGGGGAGGGGGAGGAGGGGAAGGGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0031 a0031	a0031c0035 a0031c0035	a0031c0035t0001 a0031c0035t0001	a0031c0035t0001g0081 a0031c0035t0001g0081	1	203	0.0049	25	c.801 others(42): Show c.8017-305_8017-304insGCCCTTCCCCTCCTCCCCCTCCCCT		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	21/45						chr16	TogoVar
PKD1_chr16_2083708_2140898	2104989	A A	AGGGCTAG others(18): Show AGGGCTAGGGGAGGGGAGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03486.hp2 others(1): Show HG02723.hp1 HG02970.hp2 HG03486.hp2 NA18522.hp1	a0014 a0045 a0063 a0014 a0045 a0063	a0014c0015 a0045c0046 a0063c0052 a0014c0015 a0045c0046 a0063c0052	a0014c0015t0010 a0045c0046t0010 a0063c0052t0001 a0014c0015t0010 a0045c0046t0010 a0063c0052t0001	a0014c0015t0010g0199 a0014c0015t0010g0200 a0045c0046t0010g0201 others(1): Show a0014c0015t0010g0199 a0014c0015t0010g0200 a0045c0046t0010g0201 a0063c0052t0001g0188	4	214	0.0187	25	c.801 others(42): Show c.8016+308_8016+332dupCTCCCCTCCTCCCCTCCCCTAGCCC		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	21/45						chr16	TogoVar
PKDCC_chr2_42043021_42063517	42047932	A A	AGGCGGAG others(18): Show AGGCGGAGGCGGAGGAGGAGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 NA20752.hp1 HG01981.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0008	2	403	0.0050	25	c.-26 others(34): Show c.-268_-267insGGCGGAGGCGGAGGAGGAGGCGGAG		PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding					88		chr2	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG01109.hp1 HG02257.hp2	a0020 a0039 a0020 a0039	a0020c0017 a0039c0029 a0020c0017 a0039c0029	a0020c0017t0004 a0039c0029t0022 a0020c0017t0004 a0039c0029t0022	a0020c0017t0004g0270 a0039c0029t0022g0269 a0020c0017t0004g0270 a0039c0029t0022g0269	2	56	0.0357	25	c.208 others(42): Show c.2085+769_2085+770insTTTTTTTTTTTTTTTTTTTTTTTTT		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1_chr6_51610299_52092613	51758053	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0129 a0001c0022t0001g0129	1	132	0.0076	25	c.864 others(44): Show c.8643-3116_8643-3115insCTCTCTCTCTCTCTCTCTCTCTCTC		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	55/66						chr6	TogoVar
PKN1_chr19_14428306_14476859	14442065	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0211 a0008c0018t0001g0211	1	149	0.0067	25	c.322 others(40): Show c.322+645_322+646insTTTTTTTTTTTTTTTTTTTTTTTTT		PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
PKN3_chr9_128697503_128725916	128717117	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01175.hp1 others(7): Show HG00280.hp2 HG01081.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG02004.hp2 HG02965.hp2 HG03491.hp1 HG03492.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0188 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0188 a0001c0001t0001g0205 a0001c0001t0001g0224	10	21	0.4762	25	c.198 others(42): Show c.1985+196_1985+220dupTTTTTTTTTTTTTTTTTTTTTTTTT		PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	196	0.0051	25	c.-57 others(44): Show c.-57+12741_-57+12742insATATATATATATATATATATATATA		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	196	0.0051	25	c.-57 others(44): Show c.-57+12740_-57+12741insTATATATATATATATATATATATAT		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10						chr21	TogoVar
PKNOX1_chr21_42969562_43038931	43032314	T T	TTCCCTCA others(18): Show TTCCCTCACCACCCTCCGTCTCTTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(53): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02486.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 NA18940.hp1 NA18950.hp1 NA18951.hp1 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19058.hp1 NA19067.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0002c0004t0005	a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 others(52): Show a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0101 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0272 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0191 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0273 a0001c0001t0005g0275 a0001c0001t0006g0004 a0001c0001t0006g0190 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0274 a0001c0001t0020g0172 a0001c0001t0020g0183 a0001c0001t0021g0153 a0001c0001t0021g0154 a0001c0001t0033g0184 a0002c0004t0005g0178	56	360	0.1556	25	c.22 others(36): Show c.2214_*2238dupTCCCTCACCACCCTCCGTCTCTTCG		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	11/11				2239	INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP2_chr12_32785755_32901777	32806686	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	227	0.0044	25	c.201 others(44): Show c.2014-4131_2014-4130insCACACACACACACACACACACACAC		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	9/12						chr12	TogoVar
PKP2_chr12_32785755_32901777	32846745	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02280.hp1 NA19004.hp2 others(1): Show HG02273.hp2 HG02280.hp1 NA19004.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006	a0002c0002t0001g0144 a0002c0002t0005g0317 a0002c0002t0006g0119 others(1): Show a0002c0002t0001g0144 a0002c0002t0005g0317 a0002c0002t0006g0119 a0002c0002t0006g0192	4	240	0.0167	25	c.137 others(44): Show c.1378+4020_1378+4021insTTTTTTTTTTTTTTTTTTTTTTTTT		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	5/12						chr12	TogoVar
PKP2_chr12_32785755_32901777	32865681	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03225.hp1 HG03471.hp2 HG00738.hp1 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0005g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0005g0170	3	128	0.0234	25	c.117 others(44): Show c.1170+3245_1170+3246insTTTTTTTTTTTTTTTTTTTTTTTTT		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12						chr12	TogoVar
PKP3_chr11_389209_409908	402659	G G	GCCCCGCT others(18): Show GCCCCGCTCACCCCCTGCCCCGCCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	160	0.0063	25	c.173 others(42): Show c.1738-419_1738-418insCCCCGCTCACCCCCTGCCCCGCCTC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PLA2G12A_chr4_109704989_109735070	109730128	T T	TGGGGCGG others(18): Show TGGGGCGGGACGCGCAGGGGTGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02647.hp2 others(4): Show HG02280.hp2 HG02559.hp1 HG02647.hp2 HG03041.hp2 HG06807.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0035 a0001c0001t0008g0077 others(1): Show a0001c0001t0008g0025 a0001c0001t0008g0035 a0001c0001t0008g0077 a0001c0001t0008g0078	7	410	0.0171	25	c.-32 others(34): Show c.-320_-319insGCCCCACCCCTGCGCGTCCCGCCCC		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					59		chr4	TogoVar
PLA2G2D_chr1_20106939_20124536	20107510	G G	GTGTTTGG others(18): Show GTGTTTGGGGCAGGGAGGGACGCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01884.hp2 others(8): Show HG01099.hp2 HG01106.hp1 HG01884.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02965.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0004g0016 a0001c0001t0008g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0004g0016 a0001c0001t0008g0010 a0001c0001t0013g0028 a0003c0003t0001g0115	11	462	0.0238	25	c.66 others(36): Show c.6603_*6604insTAAGCGTCCCTCCCTGCCCCAAACA		PLA2G2D	ENSG00000117215.15	transcript	ENST00000375105.8	protein_coding					4428		chr1	TogoVar
PLA2G2D_chr1_20106939_20124536	20111920	C C	CTTATTTT others(18): Show CTTATTTTATTTTATTTTATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 NA18906.hp1 HG03942.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0013 a0001c0001t0023g0099 a0001c0001t0001g0013 a0001c0001t0023g0099	2	133	0.0150	25	c.21 others(36): Show c.2193_*2194insAATAAAATAAAATAAAATAAAATAA		PLA2G2D	ENSG00000117215.15	transcript	ENST00000375105.8	protein_coding					18		chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186857127	A A	AATATATA others(18): Show AATATATATTATATAATTATATAATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02922.hp1 others(5): Show HG02055.hp1 HG02486.hp1 HG02922.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0024 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0104 a0001c0001t0001g0174	8	305	0.0262	25	c.33+ others(40): Show c.33+2742_33+2766dupTATATATTATATAATTATATAATTA		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48097251	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0257 a0002c0005t0005g0257	1	126	0.0079	25	c.568 others(40): Show c.568+887_568+888insAAAAAAAAAAAAAAAAAAAAAAAAA		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	6/16						chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105945	C C	CCTTTCTT others(18): Show CCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0067 a0006c0023t0001g0067	1	120	0.0083	25	c.9-5 others(36): Show c.9-502_9-501insAAAAGAAAGAAAGAAAGAAAGAAAG		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLA2R1_chr2_159927006_160067615	159935945	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG02273.hp2 NA18970.hp1 HG01433.hp1 HG02273.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0038 a0001c0001t0083 a0001c0003t0038 a0001c0001t0038 a0001c0001t0083 a0001c0003t0038	a0001c0001t0038g0185 a0001c0001t0083g0190 a0001c0003t0038g0164 a0001c0001t0038g0185 a0001c0001t0083g0190 a0001c0003t0038g0164	3	27	0.1111	25	c.58 others(36): Show c.5832_*5833insAAAAAAAAAAAAAAAAAAAAAAAAA		PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	30/30				5832		chr2	TogoVar
PLAG1_chr8_56155909_56216273	56183738	T T	TGTTTTTT others(18): Show TGTTTTTTTAACAAATGCTGCTGGAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	306	0.0033	25	c.-32 others(44): Show c.-321-4250_-321-4226dupTTCCAGCAGCATTTGTTAAAAAAAC		PLAG1	ENSG00000181690.8	transcript	ENST00000316981.8	protein_coding	1/4						chr8	TogoVar
PLB1_chr2_28491060_28649142	28554489	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03041.hp1 NA18971.hp2 HG02083.hp2 HG03041.hp1 NA18971.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0013 a0004c0009 a0001c0002 a0001c0013 a0004c0009	a0001c0002t0001 a0001c0013t0002 a0004c0009t0003 a0001c0002t0001 a0001c0013t0002 a0004c0009t0003	a0001c0002t0001g0226 a0001c0013t0002g0189 a0004c0009t0003g0228 a0001c0002t0001g0226 a0001c0013t0002g0189 a0004c0009t0003g0228	3	37	0.0811	25	c.114 others(44): Show c.1147+1503_1147+1527dupTTTTTTTTTTTTTTTTTTTTTTTTT		PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	17/57					INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCB1_chr20_8127266_8889900	8130116	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02622.hp1 others(2): Show HG01884.hp2 HG02280.hp2 HG02622.hp1 HG02647.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0021 a0004c0013	a0001c0001t0014 a0001c0002t0001 a0001c0007t0007 others(2): Show a0001c0001t0014 a0001c0002t0001 a0001c0007t0007 a0001c0021t0001 a0004c0013t0001	a0001c0001t0014g0007 a0001c0002t0001g0097 a0001c0007t0007g0014 others(2): Show a0001c0001t0014g0007 a0001c0002t0001g0097 a0001c0007t0007g0014 a0001c0021t0001g0094 a0004c0013t0001g0013	5	41	0.1220	25	c.-25 others(36): Show c.-2536_-2535insAGGAAAGGAAAGGAAAGGAAAGGAA		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding					2149		chr20	TogoVar
PLCB1_chr20_8127266_8889900	8676372	A A	AAAAGAAA others(18): Show AAAAGAAAGAAGAAAGAGAGACAAAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	106	0.0094	25	c.863 others(42): Show c.863-8549_863-8525dupGAAAGAGAGACAAAGAAAGAAAGAA		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8744616	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG02615.hp2 others(10): Show HG01106.hp1 HG01261.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG03492.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0021	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(9): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0005t0007 a0001c0005t0008 a0001c0006t0002 a0001c0006t0003 a0001c0006t0020 a0001c0008t0001 a0001c0021t0001	a0001c0001t0002g0078 a0001c0002t0001g0031 a0001c0002t0003g0079 others(10): Show a0001c0001t0002g0078 a0001c0002t0001g0031 a0001c0002t0003g0079 a0001c0002t0005g0062 a0001c0002t0007g0027 a0001c0005t0007g0032 a0001c0005t0008g0003 a0001c0006t0002g0054 a0001c0006t0003g0017 a0001c0006t0020g0074 a0001c0008t0001g0101 a0001c0008t0001g0105 a0001c0021t0001g0094	13	44	0.2955	25	c.252 others(44): Show c.2523+3062_2523+3086dupTAAAATAAAATAAAATAAAATAAAA		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	23/31					INFO_REALIGN_3_PRIME	chr20	TogoVar

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