Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PBX1_chr1_164554184_164856831	164773241	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02976.hp1 others(2): Show HG02145.hp1 HG02257.hp2 HG02976.hp1 NA18957.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0002c0002t0003	a0001c0001t0001g0062 a0001c0001t0002g0113 a0001c0001t0005g0078 others(2): Show a0001c0001t0001g0062 a0001c0001t0002g0113 a0001c0001t0005g0078 a0001c0001t0006g0005 a0002c0002t0003g0131	5	184	0.0272	20	c.266 others(39): Show c.266-19252_266-19251insACACACACACACACACACAC	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164773243	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	184	0.0054	20	c.266 others(39): Show c.266-19240_266-19221dupCACACACACACACACACACA	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164786720	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	184	0.0054	20	c.266 others(37): Show c.266-5773_266-5772insTGTGTGTGTGTGTGCGCGCG	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164834029	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02976.hp2 HG01496.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0010 a0002c0002t0002g0162 a0001c0001t0005g0010 a0002c0002t0002g0162	2	184	0.0109	20	c.120 others(41): Show c.1200+12425_1200+12444dupGTGTGTGTGTGTGTGTGTGT	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125791301	G G	GTCTATCT others(13): Show GTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	294	0.0034	20	c.274 others(39): Show c.274+42706_274+42725dupATCTATCTATCTATCTATCT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125793364	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	294	0.0034	20	c.274 others(39): Show c.274+44742_274+44743insTATATATATATATATATATA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	294	0.0034	20	c.274 others(39): Show c.274+44750_274+44769dupATATATATATATATATATAT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125943352	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	294	0.0034	20	c.843 others(37): Show c.843+7773_843+7792dupAAAAAAAAAAAAAAAAAAAA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBD2_chr5_134900131_134967644	134962072	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0280 a0001c0001t0013g0290 a0001c0001t0013g0280 a0001c0001t0013g0290	2	330	0.0061	20	c.14 others(31): Show c.1407_*1426dupGTGTGTGTGTGTGTGTGTGT	PCBD2	ENSG00000132570.15	transcript	ENST00000254908.11	protein_coding	4/4	1427	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCBP2_chr12_53447102_53486162	53470378	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0284 a0001c0001t0007g0284	1	348	0.0029	20	c.883 others(37): Show c.883-1255_883-1236dupAAAAAAAAAAAAAAAAAAAA	PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP3_chr21_45638725_45947450	45646093	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp1 HG01258.hp2 others(7): Show HG00673.hp1 HG01257.hp1 HG01258.hp2 HG02280.hp1 HG02559.hp1 HG02922.hp2 HG03239.hp2 HG03471.hp1 NA19007.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015	a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 others(7): Show a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0004g0004 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0015g0003	10	292	0.0343	20	c.-27 others(39): Show c.-279+2240_-279+2241insCTCTTTCTCTCTCTCTCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45646107	C C	CTCTCTGT others(13): Show CTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	292	0.0034	20	c.-27 others(39): Show c.-279+2240_-279+2241insCTCTGTGTGTGTGTGTGTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45646107	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18943.hp2 NA18982.hp2 HG04204.hp1 NA18943.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040	3	292	0.0103	20	c.-27 others(39): Show c.-279+2240_-279+2241insCTGTGTGTGTGTGTGTGTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCTTTC others(13): Show GTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG01891.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0263 a0001c0001t0003g0219 a0001c0001t0003g0263	2	292	0.0069	20	c.-27 others(39): Show c.-278-1784_-278-1765dupCTTTCTTTCTTTCTTTCTTT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45691441	T T	TATATATA others(13): Show TATATATAAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	292	0.0034	20	c.-20 others(41): Show c.-200+22493_-200+22494insATAAAATATATATATAATAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100188294	A A	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp2 HG03017.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0110 a0001c0001t0001g0114	2	174	0.0115	20	c.469 others(39): Show c.469-21023_469-21004dupCAAAACAAAACAAAACAAAA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100188305	A A	AAAACAAA others(13): Show AAAACAAAACAAAACAAAACG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03041.hp1 others(1): Show HG02055.hp1 HG02145.hp1 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0116	4	174	0.0230	20	c.469 others(39): Show c.469-21008_469-21007insGAAACAAAACAAAACAAAAC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341957	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0115 a0001c0001t0001g0088 a0001c0001t0001g0115	2	174	0.0115	20	c.164 others(39): Show c.1643+1704_1643+1723dupATATATATATATATATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341973	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01123.hp2 others(13): Show HG00738.hp1 HG01074.hp1 HG01123.hp2 HG01993.hp2 HG02132.hp2 HG02300.hp1 HG03710.hp1 NA18947.hp2 NA18956.hp1 NA18968.hp2 NA18989.hp2 NA18999.hp1 NA19004.hp1 NA19064.hp1 NA19081.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0164 a0004c0004t0001g0126	16	174	0.0920	20	c.164 others(39): Show c.1643+1723_1643+1724insATATATATATGTATATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341979	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	174	0.0058	20	c.164 others(39): Show c.1643+1723_1643+1724insATATATATATATATATGTAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348779	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	174	0.0058	20	c.164 others(39): Show c.1643+8523_1643+8524insCCTTCCTTCCTTCCTTCCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348787	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	174	0.0058	20	c.164 others(39): Show c.1643+8540_1643+8559dupCCTTCCTTCCTTCCTTCCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348787	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	174	0.0058	20	c.164 others(39): Show c.1643+8531_1643+8532insTCTTTCTTTCTTCCTTCCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100380032	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	174	0.0058	20	c.174 others(41): Show c.1746+11460_1746+11479dupCACACACACACACACACACA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100400630	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19030.hp2 HG02896.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0066 a0002c0003t0001g0059 a0001c0001t0002g0066 a0002c0003t0001g0059	2	174	0.0115	20	c.174 others(41): Show c.1747-24986_1747-24985insTTTTTTTTTTTTTTTTTTTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100422070	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	174	0.0058	20	c.174 others(39): Show c.1747-3531_1747-3512dupCTTTCTTTCTTTCTTTCTTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100451754	C C	CCCTCTCT others(13): Show CCCTCTCTGTCCTCTTCCTCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	174	0.0058	20	c.189 others(39): Show c.1899+2497_1899+2516dupGTCCTCTTCCTCTCCTCTCT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100451802	G G	GTCCTCTT others(13): Show GTCCTCTTCCTCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	174	0.0058	20	c.189 others(39): Show c.1899+2524_1899+2543dupTCCTCTCCTCTCTCTCCTCT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100469211	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18522.hp2 NA19240.hp2 HG02145.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0116 a0001c0001t0001g0172 a0001c0001t0001g0084 a0001c0001t0001g0116 a0001c0001t0001g0172	3	174	0.0172	20	c.189 others(41): Show c.1899+19922_1899+19923insAAAAAAAAAAAAAAAAAAAA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100474440	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	174	0.0058	20	c.189 others(41): Show c.1899+25145_1899+25164dupCTCTCTCTCTCTCTCTCTCT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100509826	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01517.hp1 NA18983.hp1 others(2): Show HG01071.hp2 HG01517.hp1 NA18983.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0127 a0001c0001t0001g0129	5	174	0.0287	20	c.190 others(39): Show c.1900-5586_1900-5567dupGTTTTGTTTTGTTTTGTTTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100524374	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	174	0.0058	20	c.204 others(39): Show c.2041-3282_2041-3263dupGTGTGTGTGTGTGTGTGTGT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100524983	G G	GGATGGAT others(13): Show GGATGGATGGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18983.hp1 NA20905.hp2 HG04199.hp1 NA18983.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0129 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0129	3	174	0.0172	20	c.204 others(39): Show c.2041-2689_2041-2688insGGATGGATAGATAGATAGAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp2 HG02630.hp2 others(3): Show HG00738.hp1 HG01891.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0182 a0001c0001t0001g0185	6	300	0.0200	20	c.543 others(37): Show c.543+2376_543+2377insGTATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136264448	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 HG02280.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0011 a0001c0001t0001g0012	2	300	0.0067	20	c.543 others(37): Show c.543+2384_543+2385insGTATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299646	A A	ATATGCAT others(13): Show ATATGCATGTGTATGTATAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20129.hp2 HG01496.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0203 a0001c0001t0001g0220	2	300	0.0067	20	c.885 others(37): Show c.885-1366_885-1347dupAGGTATGCATGTGTATGTAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299878	G G	GTGTATGT others(13): Show GTGTATGTATATACATGCATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02135.hp1 HG02280.hp2 others(3): Show HG00544.hp1 HG02135.hp1 HG02280.hp2 HG02965.hp2 NA18954.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012	6	300	0.0200	20	c.885 others(37): Show c.885-1144_885-1143insTATACATGCATATGTATGTA	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91907412	C C	CCCACACA others(13): Show CCCACACACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0037 a0001c0001t0007g0037	1	154	0.0065	20	c.303 others(41): Show c.3033+28139_3033+28140insCCACACACAGAGAGAGAGAG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10			chrX	TogoVar
PCDH11X_chrX_91774375_92628230	91945048	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01934.hp1 HG03654.hp1 others(8): Show HG01167.hp1 HG01934.hp1 HG03654.hp1 NA18940.hp1 NA18953.hp1 NA18983.hp1 NA18986.hp1 NA18994.hp1 NA19012.hp1 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0027	a0001c0001t0001g0015 a0001c0001t0001g0099 a0001c0001t0001g0106 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0002g0078 a0001c0001t0002g0095 a0001c0001t0002g0103 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0013g0089 a0001c0001t0027g0088	11	154	0.0714	20	c.303 others(41): Show c.3033+65776_3033+65795dupATATATATATATATATATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	91948878	T T	TGATAAGA others(13): Show TGATAAGATATAGAAGGTGAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	154	0.0065	20	c.303 others(41): Show c.3033+69612_3033+69631dupATATAGAAGGTGAGGATAAG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92111219	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01934.hp1 HG01943.hp1 others(11): Show HG00609.hp1 HG01934.hp1 HG01943.hp1 HG02040.hp1 HG02056.hp1 HG03239.hp2 NA18949.hp2 NA18953.hp1 NA18966.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18995.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0006 others(2): Show a0001c0001 a0001c0003 a0002c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0002 a0002c0006t0009 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0111 others(11): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0002g0095 a0001c0001t0003g0093 a0001c0001t0003g0123 a0001c0001t0003g0142 a0001c0001t0007g0122 a0001c0003t0002g0143 a0002c0006t0009g0032 a0003c0005t0001g0114 a0004c0007t0001g0020	14	154	0.0909	20	c.303 others(41): Show c.3034-90143_3034-90124dupAAAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147806	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA21309.hp2 HG03942.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0109 a0001c0001t0014g0051 a0001c0001t0001g0109 a0001c0001t0014g0051	2	154	0.0130	20	c.303 others(41): Show c.3034-53566_3034-53565insTCTTTCTTTCTTTCTTTCTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147810	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01255.hp1 others(15): Show HG01074.hp1 HG01106.hp1 HG01255.hp1 HG01496.hp1 HG02300.hp1 HG03017.hp1 HG03540.hp1 NA18612.hp1 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18968.hp1 NA18982.hp1 NA18990.hp1 NA19007.hp1 NA19091.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0004t0009	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0060 others(15): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0003g0036 a0001c0001t0003g0069 a0001c0001t0003g0081 a0001c0001t0004g0082 a0001c0001t0004g0090 a0002c0004t0009g0040 a0002c0004t0009g0041	18	154	0.1169	20	c.303 others(41): Show c.3034-53540_3034-53521dupCTTTCTTTCTTTCTTTCTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147922	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0044 a0001c0009t0031g0044	1	154	0.0065	20	c.303 others(41): Show c.3034-53439_3034-53420dupTCTCTTCCTTCCTTCCTTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147984	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	154	0.0065	20	c.303 others(41): Show c.3034-53388_3034-53387insCCTTCCTTCCTTTCTTTCTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148133	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18994.hp1 NA18949.hp1 NA18994.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0001 a0001c0001t0003 a0003c0005t0001	a0001c0001t0003g0092 a0003c0005t0001g0025 a0001c0001t0003g0092 a0003c0005t0001g0025	2	154	0.0130	20	c.303 others(41): Show c.3034-53218_3034-53199dupCTTCCTTCCTTCCTTCCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18955.hp1 NA18959.hp1 others(1): Show HG02132.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0008t0002 a0001c0001t0001 a0001c0001t0003 a0001c0008t0002	a0001c0001t0001g0068 a0001c0001t0001g0129 a0001c0001t0003g0119 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0129 a0001c0001t0003g0119 a0001c0008t0002g0038	4	154	0.0260	20	c.303 others(41): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCTTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	154	0.0065	20	c.303 others(41): Show c.3034-53199_3034-53198insCTTCCTTCCTTCTTTCTTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18960.hp1 NA18940.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0002 a0001c0001t0027g0088 a0001c0001t0002g0002 a0001c0001t0027g0088	2	154	0.0130	20	c.303 others(41): Show c.3034-53199_3034-53198insCTTCCTTCTTTCTTTCTTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92208508	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02258.hp1 HG02300.hp1 others(8): Show HG00673.hp1 HG02258.hp1 HG02300.hp1 HG02572.hp1 HG03540.hp1 HG03654.hp1 HG04199.hp1 NA19070.hp1 NA19082.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0031 a0001c0001t0001g0106 a0001c0001t0002g0016 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0106 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0003g0080 a0001c0001t0004g0090 a0001c0001t0006g0003 a0001c0001t0007g0086 a0001c0001t0012g0052 a0001c0001t0018g0087 a0001c0001t0019g0065	11	154	0.0714	20	c.311 others(39): Show c.3114+7063_3114+7082dupTATATATATATATATATATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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