Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff 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	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
PRXL2A_chr10_80403551_80442115	80406757	C C	CATATATA others(43): Show CATATATATATATATATATATATATATTATCATATATATATATATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	300	0.0033	50	c.-18 others(61): Show c.-1889_-1888insATATATATATATATATATATATATATTATCATAT ATATATATATATATAT		PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding					1793		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(43): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	416	0.0024	50	c.870 others(67): Show c.870-1095_870-1094insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18594218	A A	ATATACAT others(43): Show ATATACATATTATATAATATATATTATTATATATTATATAATATATATTA T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0010 a0005c0012t0010	a0005c0012t0010g0187 a0005c0012t0010g0187	1	228	0.0044	50	c.248 others(69): Show c.2481+6145_2481+6146insATAATATATATTATATAATATATAAT AATATATATTATATAATATGTATA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15						chr8	TogoVar
PSEN1_chr14_73131507_73228691	73184304	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	378	0.0027	50	c.481 others(67): Show c.481-2510_481-2509insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGC		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	332	0.0030	50	c.228 others(67): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATATATATATATAT		PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATGTAT G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02040.hp1 others(11): Show HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02559.hp1 HG03491.hp1 HG03654.hp1 HG04184.hp2 NA18522.hp1 NA18955.hp1 NA18970.hp1 NA19000.hp1 NA19006.hp2 NA19010.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0116 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0002t0001g0140	14	332	0.0422	50	c.228 others(67): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATATATGTATGTAT		PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATGTATGTAT G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	332	0.0030	50	c.228 others(67): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATGTATGTATGTAT		PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMD13_chr11_231976_257984	257913	C C	CTGGCTCA others(43): Show CTGGCTCATCTTGGCTCATCCTGGCCCGTCCTGGCTCATCCTGGCTCATC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01943.hp2 HG02257.hp2 others(10): Show HG01243.hp1 HG01943.hp2 HG02257.hp2 HG02486.hp1 HG02615.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 others(10): Show a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0165 a0001c0001t0004g0109 a0001c0001t0007g0108 a0001c0001t0007g0110 a0001c0001t0007g0127 a0001c0001t0007g0169 a0001c0001t0007g0170	13	450	0.0289	50	c.53 others(61): Show c.5313_*5314insTGGCTCATCTTGGCTCATCCTGGCCCGTCCTGGC TCATCCTGGCTCATCT		PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding					4930		chr11	TogoVar
PSMD3_chr17_39975807_40002959	39994799	G G	GCACAGGT others(43): Show GCACAGGTTTTCAGGGCTTCCTCCTCTCTCTGGGCCTAAACAGTGATCCC T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	418	0.0024	50	c.982 others(65): Show c.982-154_982-105dupCACAGGTTTTCAGGGCTTCCTCCTCTCTCT GGGCCTAAACAGTGATCCCT		PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
PSPC1_chr13_19697500_19787945	19779545	C C	CGGAGGGA others(43): Show CGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCC G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03831.hp1 HG04184.hp2 others(1): Show HG00642.hp1 HG03831.hp1 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0002g0036 others(1): Show a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0002g0036 a0001c0001t0002g0071	4	258	0.0155	50	c.372 others(67): Show c.372+2840_372+2841insCGGACGGGGCGGCTGGCCATGCGGGGGG CTGACCCCCCCCACCTCCCTCC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779555	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03239.hp1 NA19090.hp2 HG02647.hp2 HG03239.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0226 a0001c0001t0002g0069 a0001c0001t0007g0255 a0001c0001t0001g0226 a0001c0001t0002g0069 a0001c0001t0007g0255	3	258	0.0116	50	c.372 others(67): Show c.372+2830_372+2831insCACCTCCCTCCCGGACGGGGCGGCTGGC CATGCGGGGGGCTGACCCCCCC		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779573	G G	GCATGGCC others(43): Show GCATGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCG C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	258	0.0039	50	c.372 others(67): Show c.372+2812_372+2813insGCGAGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCATG		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8						chr13	TogoVar
PTCD1_chr7_99411739_99443798	99427452	G G	GGCCAGCC others(43): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01496.hp2 HG02145.hp1 HG01258.hp1 HG01496.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0210 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0210	3	380	0.0079	50	c.915 others(67): Show c.915+1601_915+1650dupTGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGC		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding	5/7						chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATGTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0232 a0001c0003t0040g0232	1	380	0.0026	50	c.-20 others(61): Show c.-2010_-2009insAAAAAAAACATATATATATATATATATATATATA TATATATATATATATA		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding					1877		chr7	TogoVar
PTDSS2_chr11_445279_496399	486014	C C	CGTGTGCT others(43): Show CGTGTGCTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCG T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02451.hp1 others(2): Show HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02630.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0004g0162 others(2): Show a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164	5	346	0.0145	50	c.436 others(65): Show c.436-922_436-921insTGCTCACCGTGCGCGCAGGCGAGCGTAAAC AGTGCACGGGCGCGCGTGTG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTEN_chr10_87858625_87976930	87872132	G G	GTCAGCGA others(43): Show GTCAGCGATAAAATGGAATGCCTGGGATTTTTTAAAATTTATTTTATTCA T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0269 a0001c0001t0056g0269	1	322	0.0031	50	c.79+ others(65): Show c.79+7586_79+7635dupCAGCGATAAAATGGAATGCCTGGGATTTTT TAAAATTTATTTTATTCATT		PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PTGES2_chr9_128115693_128132729	128119025	T T	TGGAAGGA others(43): Show TGGAAGGATGGAGGGGTACAGGGATGGAGGGGTGCAGGGATGGGGGACGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	50	c.21 others(61): Show c.2119_*2120insTCCGTCCCCCATCCCTGCACCCCTCCATCCCTGT ACCCCTCCATCCTTCC		PTGES2	ENSG00000148334.16	transcript	ENST00000338961.11	protein_coding					1667		chr9	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	296	0.0034	50	c.-2+ others(67): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTT		PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4						chr7	TogoVar
PTP4A3_chr8_141387021_141437454	141413859	G G	GAAAGATG others(43): Show GAAAGATGCTGTGTGGACAGGAGGACATGGAGGATTCAGGGCTCATGGTG T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	323	0.0031	50	c.-85 others(69): Show c.-853-7521_-853-7520insTGTGTGGACAGGAGGACATGGAGGAT TCAGGGCTCATGGTGTAAAGATGC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141413859	G G	GAAAGATG others(43): Show GAAAGATGCTGTGTGGACAGGAGGACATGGAGGATTCAGGGCTCTTGGTG T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp1 HG02630.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0289 a0001c0001t0018g0068 a0001c0001t0001g0289 a0001c0001t0018g0068	2	323	0.0062	50	c.-85 others(69): Show c.-853-7521_-853-7520insTGTGTGGACAGGAGGACATGGAGGAT TCAGGGCTCTTGGTGTAAAGATGC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN18_chr2_130351056_130380405	130361504	T T	TTTTCTTT others(43): Show TTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0194 a0002c0002t0033g0194	1	380	0.0026	50	c.414 others(67): Show c.414+1868_414+1917dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT		PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361520	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0107 a0002c0004t0004g0107	1	380	0.0026	50	c.414 others(67): Show c.414+1920_414+1921insTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC		PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361528	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0004 a0014c0012t0004	a0014c0012t0004g0191 a0014c0012t0004g0191	1	380	0.0026	50	c.414 others(67): Show c.414+1920_414+1921insTTTCTTTCTTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC		PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	370	0.0027	50	c.859 others(67): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	370	0.0027	50	c.859 others(67): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	370	0.0027	50	c.859 others(67): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	370	0.0027	50	c.859 others(67): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTT		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8						chr18	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(43): Show AGGGCTCATCCCCCCCACCTCCCTCCCGGACGTGGCGGCTGGCCAGGCGG G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0025 a0002c0003t0015g0025	1	252	0.0040	50	c.139 others(69): Show c.139-18432_139-18431insCATCCCCCCCACCTCCCTCCCGGACG TGGCGGCTGGCCAGGCGGGGGGCT		PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844106	A A	ATCCCCCC others(43): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTTA C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	252	0.0040	50	c.139 others(69): Show c.139-18430_139-18429insTCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTTAC		PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26						chr2	TogoVar
PTPN9_chr15_75458251_75584315	75503576	T T	TCCGTCCG others(43): Show TCCGTCCGGGAGGGAGGTGGGGGCGGTCAGCCCCCCACCCGGCCAGCCGC C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	326	0.0031	50	c.968 others(67): Show c.968+2098_968+2099insGGCGGCTGGCCGGGTGGGGGGCTGACCG CCCCCACCTCCCTCCCGGACGG		PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12						chr15	TogoVar
PTPRA_chr20_2868481_3043669	2909859	T T	TTATATAA others(43): Show TTATATAATATAATTAAAATATATTAATTATAATATATAATATATGACAT A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp2 HG02293.hp1 others(6): Show HG00735.hp1 HG02145.hp2 HG02293.hp1 HG02723.hp2 HG02896.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp1 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0007 a0007c0017 a0001c0007 a0007c0017	a0001c0007t0001 a0007c0017t0001 a0001c0007t0001 a0007c0017t0001	a0001c0007t0001g0147 a0001c0007t0001g0148 a0001c0007t0001g0149 others(6): Show a0001c0007t0001g0147 a0001c0007t0001g0148 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0001g0152 a0001c0007t0001g0153 a0001c0007t0001g0155 a0007c0017t0001g0154	9	356	0.0253	50	c.-12 others(71): Show c.-128-13342_-128-13293dupAATATAATTAAAATATATTAATTA TAATATATAATATATGACATATATAT		PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	9998129	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0014 a0001c0013t0012g0014	1	34	0.0294	50	c.-47 others(71): Show c.-472+35588_-472+35589insATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTTTT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45						chr9	TogoVar
PTPRE_chr10_127902103_128090855	128010545	C C	CCTTTTCT others(43): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	304	0.0033	50	c.-8+ others(67): Show c.-8+28298_-8+28299insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTT		PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATGTGTGT G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	94	0.0106	50	c.85+ others(67): Show c.85+58680_85+58681insATATATATATATATATATATATATATAT ATATATATATATATGTGTGTGT		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48049515	T T	TAAAACAA others(43): Show TAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAA C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0005 a0007c0009t0005	a0007c0009t0005g0014 a0007c0009t0005g0014	1	216	0.0046	50	c.97- others(67): Show c.97-60540_97-60491dupAACAAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACAAAACAA		PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRO_chr12_15317508_15603331	15319950	T T	TATATATA others(43): Show TATATATATATATATATATATATATACATATATATATATATATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	164	0.0061	50	c.-27 others(61): Show c.-2777_-2776insATATATATATATATATATATATATACATATATAT ATATATATATATATAC		PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding					2557		chr12	TogoVar
PTPRT_chr20_42067756_43194906	43175619	A A	ACCTGGCA others(43): Show ACCTGGCAACAGAGCGAGACCCCGGGCTCTGACTGTGCCACTGCACTCCA G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	62	0.0161	50	c.88+ others(67): Show c.88+14026_88+14027insCTGGAGTGCAGTGGCACAGTCAGAGCCC GGGGTCTCGCTCTGTTGCCAGG		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
PWWP2A_chr5_160086339_160124450	160109784	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATAAAATAATATAAT A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp1 HG00673.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0106 a0001c0001t0007g0070 a0001c0001t0001g0106 a0001c0001t0007g0070	2	384	0.0052	50	c.584 others(67): Show c.584+9020_584+9021insTATTATATTATTTTATATATATATATAT ATATATATATATATATATATAT		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1						chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109788	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATAAAATAATATAAT A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	384	0.0026	50	c.584 others(67): Show c.584+9016_584+9017insTATTATATTATTTTATATATATATATAT ATATATATATATATATATATAT		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1						chr5	TogoVar
PXDNL_chr8_51314577_51814445	51428966	A A	ATAGACCC others(43): Show ATAGACCCAAAATTCAACAGTATATAGAAATTCAACAGTATATAGTTCAA T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00741.hp2 others(73): Show HG00438.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18956.hp1 NA18959.hp2 NA18966.hp2 NA18979.hp2 NA18984.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19086.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0013 a0017 a0021 a0022 a0027 a0028 a0029 a0030 a0031 a0033 a0034	a0001c0001 a0001c0011 a0001c0032 others(21): Show a0001c0001 a0001c0011 a0001c0032 a0001c0046 a0002c0002 a0002c0021 a0002c0037 a0003c0033 a0004c0004 a0004c0041 a0006c0006 a0007c0007 a0011c0017 a0013c0030 a0017c0016 a0021c0022 a0022c0042 a0027c0031 a0028c0038 a0029c0039 a0030c0040 a0031c0020 a0033c0036 a0034c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0011t0003 a0001c0032t0002 a0001c0046t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0021t0002 a0002c0037t0001 a0003c0033t0001 a0004c0004t0001 a0004c0004t0003 a0004c0041t0001 a0006c0006t0001 a0007c0007t0001 a0007c0007t0002 a0011c0017t0001 a0013c0030t0002 a0017c0016t0001 a0021c0022t0003 a0022c0042t0001 a0027c0031t0002 a0028c0038t0002 a0029c0039t0002 a0030c0040t0001 a0031c0020t0001 a0033c0036t0001 a0034c0019t0001	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 others(73): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0003g0013 a0001c0011t0003g0008 a0001c0032t0002g0106 a0001c0046t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0053 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0004g0015 a0002c0021t0002g0092 a0002c0037t0001g0087 a0003c0033t0001g0035 a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0065 a0004c0004t0001g0076 a0004c0004t0003g0001 a0004c0041t0001g0057 a0006c0006t0001g0042 a0006c0006t0001g0043 a0006c0006t0001g0045 a0006c0006t0001g0046 a0007c0007t0001g0029 a0007c0007t0001g0031 a0007c0007t0002g0099 a0011c0017t0001g0054 a0011c0017t0001g0075 a0013c0030t0002g0105 a0017c0016t0001g0062 a0017c0016t0001g0063 a0021c0022t0003g0004 a0022c0042t0001g0044 a0027c0031t0002g0121 a0028c0038t0002g0119 a0029c0039t0002g0120 a0030c0040t0001g0060 a0031c0020t0001g0084 a0033c0036t0001g0091 a0034c0019t0001g0090	76	122	0.6230	50	c.152 others(69): Show c.1526-2209_1526-2208insATTGAACTATATACTGTTGAATTTCT ATATACTGTTGAATTTTGGGTCTA		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	12/22						chr8	TogoVar
PXMP2_chr12_132682587_132709985	132694095	C C	CAGTTAGT others(43): Show CAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTAGCCAGT T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01168.hp1 others(12): Show HG00280.hp1 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG02027.hp2 HG04204.hp2 NA18942.hp1 NA18955.hp2 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 others(9): Show a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0156 a0001c0003t0003g0170 a0001c0008t0003g0095	15	350	0.0429	50	c.237 others(67): Show c.237-1782_237-1781insTAGTGAGCGCCCTTAGCCAGTTAGTGAG CGCCCTTAGCCAGTTAGTTAGT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132705308	C C	CACACACA others(43): Show CACACACACACACACACACACACATATATATGTATATATGTGTCTATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	350	0.0029	50	c.62 others(59): Show c.621_*622insACACACACACACACACACACACATATATATGTATAT ATGTGTCTATATAT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding					324		chr12	TogoVar
PXN_chr12_120205447_120270730	120265741	G G	GCCGCCGC others(43): Show GCCGCCGCGCGCGCCCGCGCCCGCGCCCGCCGCGCGCGCCCGCGCCCGCG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA18948.hp2 NA18997.hp2 HG02129.hp2 NA18948.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0021 a0001c0001t0001g0200 a0001c0001t0001g0203	3	324	0.0093	50	c.-11 others(59): Show c.-113_-112insGCGCGGGCGCGGGCGCGCGCGGCGGGCGCGGGCGCG GGCGCGCGCGGCGG		PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding					12		chr12	TogoVar
QRSL1_chr6_106624578_106673417	106652485	A A	ACCCCAGG others(43): Show ACCCCAGGGACTCTACCACAGTACATGAACCTATTAATAAACCATTCATG C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0336 a0006c0010t0005g0336	1	422	0.0024	50	c.753 others(57): Show c.753_802dupCCCCAGGGACTCTACCACAGTACATGAACCTATTAATA AACCATTCATGC	p.Leu others(5): Show p.Leu268fs	QRSL1	ENSG00000130348.11	transcript	ENST00000369046.8	protein_coding	7/11	907/4106	803/1587	268/528		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB11FIP1_chr8_37853618_37904497	37894725	T T	TATATATA others(43): Show TATATATATATACATATATATATACATATATATATATACATATATATATA C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 NA19030.hp2 HG02723.hp2 HG03130.hp2 NA19030.hp2	a0016 a0022 a0016 a0022	a0016c0018 a0022c0047 a0016c0018 a0022c0047	a0016c0018t0008 a0022c0047t0008 a0016c0018t0008 a0022c0047t0008	a0016c0018t0008g0091 a0016c0018t0008g0239 a0022c0047t0008g0035 a0016c0018t0008g0091 a0016c0018t0008g0239 a0022c0047t0008g0035	3	264	0.0114	50	c.371 others(67): Show c.371+4345_371+4346insGTATATATATATGTATATATATATATGT ATATATATATGTATATATATAT		RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5						chr8	TogoVar
RAB3GAP1_chr2_135047292_135175710	135078645	G G	GTCCCCTC others(43): Show GTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0011 a0004c0005t0011	a0004c0005t0011g0219 a0004c0005t0011g0222 a0004c0005t0011g0219 a0004c0005t0011g0222	2	280	0.0071	50	c.151 others(69): Show c.151-12307_151-12306insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCT		RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB40B_chr17_82649973_82703698	82671718	C C	CCACTGAC others(43): Show CCACTGACACACCTCACCCCTGTAACTCAAACCACACACACACCCTGTAC T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(59): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01255.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18982.hp1 NA19067.hp2 NA19080.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0042 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0005t0048 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(58): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0003g0007 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0050 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0120 a0001c0001t0003g0132 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0159 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0198 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0221 a0001c0001t0003g0238 a0001c0001t0003g0244 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0299 a0001c0001t0003g0327 a0001c0001t0004g0026 a0001c0001t0005g0112 a0001c0001t0010g0067 a0001c0001t0013g0126 a0001c0001t0013g0146 a0001c0001t0013g0162 a0001c0001t0021g0260 a0001c0001t0021g0265 a0001c0001t0022g0188 a0001c0001t0042g0012 a0001c0001t0046g0199 a0001c0001t0050g0102 a0001c0001t0051g0066 a0001c0005t0048g0222 a0001c0006t0001g0130	62	338	0.1834	50	c.143 others(67): Show c.143-7163_143-7162insAGTACAGGGTGTGTGTGTGGTTTGAGTT ACAGGGGTGAGGTGTGTCAGTG		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5						chr17	TogoVar
RAB40B_chr17_82649973_82703698	82671881	C C	CCACTGAC others(43): Show CCACTGACACACCTCACCCCTGTAACTCAAACCACACACACACCCTGTAC T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	338	0.0030	50	c.143 others(67): Show c.143-7326_143-7325insAGTACAGGGTGTGTGTGTGGTTTGAGTT ACAGGGGTGAGGTGTGTCAGTG		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5						chr17	TogoVar
RAB44_chr6_36692826_36738184	36715102	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG06807.hp2 HG02630.hp2 HG06807.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0004 a0003c0006t0001 a0003c0006t0004	a0003c0006t0001g0058 a0003c0006t0004g0053 a0003c0006t0001g0058 a0003c0006t0004g0053	2	428	0.0047	50	c.320 others(65): Show c.320-361_320-360insATATATATATATATATATATATATATATAT ATATATATATATATATATAT		RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02559.hp1 HG02165.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	2	398	0.0050	50	c.219 others(65): Show c.219-407_219-406insACACACACACACACACACACACACACACAC ACACACACACACACACACAC		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar

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