Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRD_chr9_8309246_10618002	9019360	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0015 a0001c0004t0018g0015	1	34	0.0294	26	c.-14 others(43): Show c.-142-626_-142-625insTTCTTTCTTTCTTTCTTTCTTTCTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	10/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9208020	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03579.hp1 NA19030.hp2 HG00642.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0022 a0001c0004t0018 a0002c0005t0010 a0001c0001t0022 a0001c0004t0018 a0002c0005t0010	a0001c0001t0022g0012 a0001c0004t0018g0015 a0002c0005t0010g0026 a0001c0001t0022g0012 a0001c0004t0018g0015 a0002c0005t0010g0026	3	34	0.0882	26	c.-20 others(47): Show c.-202-24658_-202-24657insAAAAAAAAAAAAAAAAAAAAAAAA AA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9998129	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	34	0.0294	26	c.-47 others(47): Show c.-472+35588_-472+35589insATATATATATATATATATATATAT AT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10031647	T T	TATATATA others(19): Show TATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	34	0.0294	26	c.-47 others(45): Show c.-472+2070_-472+2071insGTGTGTGTGTGTATATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10395954	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03834.hp1 HG01099.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0006 a0001c0002t0011g0030 a0001c0001t0001g0006 a0001c0002t0011g0030	2	34	0.0588	26	c.-59 others(47): Show c.-599-54963_-599-54938dupTCTCTCTCTCTCTCTCTCTCTCTC TC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10504115	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0026 a0002c0005t0010g0026	1	34	0.0294	26	c.-60 others(49): Show c.-600+108257_-600+108282dupTTTTTTTTTTTTTTTTTTTTTT TTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10509557	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03834.hp2 HG03579.hp1 HG03834.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0022 a0004c0010t0006 a0001c0001t0022 a0004c0010t0006	a0001c0001t0022g0012 a0004c0010t0006g0007 a0001c0001t0022g0012 a0004c0010t0006g0007	2	34	0.0588	26	c.-60 others(49): Show c.-600+102840_-600+102841insTATATATATATATATATATATA TATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10523601	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0026 a0002c0005t0010g0026	1	34	0.0294	26	c.-60 others(47): Show c.-600+88796_-600+88797insTATATATATATATATATATATATA TA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61676456	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp2 HG03041.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0006g0037 a0001c0001t0001g0033 a0001c0001t0006g0037	2	94	0.0213	26	c.86- others(43): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp2 HG01243.hp1 HG03130.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0018 a0002c0002 a0009c0018	a0002c0002t0011 a0009c0018t0006 a0002c0002t0011 a0009c0018t0006	a0002c0002t0011g0056 a0009c0018t0006g0039 a0002c0002t0011g0056 a0009c0018t0006g0039	2	94	0.0213	26	c.265 others(45): Show c.2657-1509_2657-1484dupACACACACACACACACACACACACAC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TATACACA others(19): Show TATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02300.hp2 HG00738.hp2 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0086 a0002c0002t0002g0020 a0001c0001t0002g0086 a0002c0002t0002g0020	2	94	0.0213	26	c.265 others(45): Show c.2657-1513_2657-1512insTACACACACACACACACACACACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TATATACA others(19): Show TATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	94	0.0106	26	c.265 others(45): Show c.2657-1513_2657-1512insTATACACACACACACACACACACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp2 HG02976.hp1 others(1): Show HG00099.hp1 HG01496.hp2 HG02976.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0055 a0002c0003t0001g0017	4	94	0.0426	26	c.376 others(41): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48159122	G G	GGGGTGTG others(19): Show GGGGTGTGTGTGTCTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01978.hp1 HG02647.hp1 others(3): Show HG00438.hp1 HG01978.hp1 HG02647.hp1 HG02723.hp1 HG03209.hp1 NA19062.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0005 a0002c0001 a0010c0013 a0001c0005 a0002c0001 a0010c0013	a0001c0005t0004 a0002c0001t0007 a0002c0001t0011 others(2): Show a0001c0005t0004 a0002c0001t0007 a0002c0001t0011 a0002c0001t0015 a0010c0013t0003	a0001c0005t0004g0150 a0002c0001t0007g0188 a0002c0001t0011g0027 others(3): Show a0001c0005t0004g0150 a0002c0001t0007g0188 a0002c0001t0011g0027 a0002c0001t0011g0028 a0002c0001t0015g0171 a0010c0013t0003g0122	6	216	0.0278	26	c.343 others(43): Show c.3439-807_3439-806insGGTGTGTGTGTCTGTGTGTGTGTGTG	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRK_chr6_127963785_128525599	128322667	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0044 a0001c0010t0001g0044	1	53	0.0189	26	c.224 others(41): Show c.224-358_224-357insATATATATATATATATATATATATAT	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	2/29			chr6	TogoVar
PTPRM_chr18_7562316_8411856	7658330	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp1 HG02886.hp2 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0001 a0001c0021t0001 a0001c0004t0001 a0001c0021t0001	a0001c0004t0001g0063 a0001c0021t0001g0062 a0001c0004t0001g0063 a0001c0021t0001g0062	2	80	0.0250	26	c.73+ others(43): Show c.73+90444_73+90469dupTATATATATATATATATATATATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7772369	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0067 a0002c0009t0001g0067	1	80	0.0125	26	c.74- others(41): Show c.74-1778_74-1753dupCTTTCTTTCTTTCTTTCTTTCTTTCT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	80	0.0125	26	c.197 others(45): Show c.197-53602_197-53577dupACACACACACACACACACACACACAC	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(19): Show TACACACACACACACACACATACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02559.hp2 HG02572.hp1 others(6): Show HG00639.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02976.hp2 HG03130.hp1 HG03486.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0009 a0002c0010 a0002c0011	a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 a0001c0005t0003 a0001c0005t0004 a0001c0006t0004 a0002c0009t0001 a0002c0010t0001 a0002c0011t0002	a0001c0001t0002g0027 a0001c0001t0005g0026 a0001c0004t0001g0066 others(6): Show a0001c0001t0002g0027 a0001c0001t0005g0026 a0001c0004t0001g0066 a0001c0005t0003g0074 a0001c0005t0004g0068 a0001c0006t0004g0070 a0002c0009t0001g0067 a0002c0010t0001g0047 a0002c0011t0002g0029	9	80	0.1125	26	c.197 others(45): Show c.197-53596_197-53595insTACACACACACACACACACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(19): Show TACACACACACACACACATACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG00673.hp2 others(9): Show HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01515.hp2 HG02040.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03130.hp2 HG03209.hp2 NA18959.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0017t0001	a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0002g0004 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0002g0004 a0001c0002t0001g0002 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0065 a0001c0002t0002g0013 a0001c0003t0001g0041 a0001c0004t0001g0049 a0001c0004t0002g0023 a0001c0017t0001g0060	12	80	0.1500	26	c.197 others(45): Show c.197-53598_197-53597insTACACACACACACACACACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7960480	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0025 a0001c0008t0002g0025	1	80	0.0125	26	c.113 others(45): Show c.1132+5067_1132+5068insTATATATATATATATACACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7984602	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	80	0.0125	26	c.113 others(47): Show c.1132+29189_1132+29190insTATATATATATATATATATACACA CA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8023831	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0022	1	80	0.0125	26	c.113 others(47): Show c.1133-45840_1133-45815dupACACACACACACACACACACACAC AC	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8054298	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0029 a0002c0011t0002g0029	1	80	0.0125	26	c.113 others(47): Show c.1133-15364_1133-15363insATATATATATATATATATATATAT AT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8289565	T T	TATATATA others(19): Show TATATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	80	0.0125	26	c.275 others(45): Show c.2755-6789_2755-6764dupTATATATATACACATATATATATACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15360969	C C	CACATGTG others(19): Show CACATGTGTATATACACACACATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0027 a0001c0002t0008g0027	1	164	0.0061	26	c.75+ others(43): Show c.75+38171_75+38172insTGTGTATATACACACACATATATACA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80514402	A A	ACACACAC others(19): Show ACACACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0059 a0059	a0059c0043 a0059c0043	a0059c0043t0004 a0059c0043t0004	a0059c0043t0004g0076 a0059c0043t0004g0076	1	178	0.0056	26	c.267 others(45): Show c.2678+3960_2678+3961insACACACACACACACACACACTCTCTC	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80558024	T T	TCTTTCTT others(19): Show TCTTTCTTTCTCTCTCTCTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0093 a0012c0017t0002g0093	1	178	0.0056	26	c.428 others(45): Show c.4285+8293_4285+8294insTCTTTCTCTCTCTCTCTTTCTTCCTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80558119	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG00099.hp1 HG01109.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0002 a0007c0010t0002 a0001c0001t0002 a0007c0010t0002	a0001c0001t0002g0085 a0007c0010t0002g0051 a0001c0001t0002g0085 a0007c0010t0002g0051	2	178	0.0112	26	c.428 others(45): Show c.4285+8388_4285+8389insTCTTTTCTTTTCTTTTCTTTTCTTTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRS_chr19_5200508_5345812	5228347	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG03098.hp2 HG02109.hp1 HG02257.hp2 HG03098.hp2	a0001 a0001	a0001c0015 a0001c0035 a0001c0015 a0001c0035	a0001c0015t0021 a0001c0035t0044 a0001c0015t0021 a0001c0035t0044	a0001c0015t0021g0025 a0001c0015t0021g0026 a0001c0035t0044g0045 a0001c0015t0021g0025 a0001c0015t0021g0026 a0001c0035t0044g0045	3	276	0.0109	26	c.237 others(43): Show c.2376+968_2376+969insTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	16/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5303954	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAATAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0003 a0001c0027t0003	a0001c0027t0003g0010 a0001c0027t0003g0010	1	276	0.0036	26	c.-94 others(45): Show c.-94-17721_-94-17720insATTTTTATTTTATTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRT_chr20_42067756_43194906	42404972	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG03540.hp2 others(1): Show HG01243.hp1 HG01496.hp2 HG03540.hp2 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0008 a0002c0004 a0002c0009 others(1): Show a0001c0008 a0002c0004 a0002c0009 a0004c0006	a0001c0008t0001 a0002c0004t0004 a0002c0009t0001 others(1): Show a0001c0008t0001 a0002c0004t0004 a0002c0009t0001 a0004c0006t0008	a0001c0008t0001g0060 a0002c0004t0004g0026 a0002c0009t0001g0018 others(1): Show a0001c0008t0001g0060 a0002c0004t0004g0026 a0002c0009t0001g0018 a0004c0006t0008g0054	4	62	0.0645	26	c.156 others(47): Show c.1560+43247_1560+43248insTATATATATATATATATATATATA TA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	121905650	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0161 a0003c0003t0003g0161	1	312	0.0032	26	c.59- others(43): Show c.59-22504_59-22479dupCACACACACACACACACACACACACA	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTX3_chr3_157431850_157448633	157446220	A A	AATATTGA others(19): Show AATATTGAATAATATTGAATAATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0011 a0003c0003t0004g0011	1	472	0.0021	26	c.32 others(37): Show c.3241_*3242insATATTGAATAATATTGAATAATAATT	PTX3	ENSG00000163661.4	transcript	ENST00000295927.4	protein_coding		2588		chr3	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0030 a0001c0002t0021g0030	1	334	0.0030	26	c.364 others(45): Show c.364-10121_364-10120insAAAATATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	334	0.0030	26	c.364 others(45): Show c.364-10121_364-10120insAAAAAATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	334	0.0030	26	c.364 others(45): Show c.364-10121_364-10120insAAAAAAAATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp1 NA20129.hp1 HG02109.hp1 HG03098.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0002g0071 a0001c0001t0002g0132 a0001c0001t0001g0063 a0001c0001t0002g0071 a0001c0001t0002g0132	3	334	0.0090	26	c.364 others(45): Show c.364-10121_364-10120insAAAAAAAAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02630.hp1 HG02647.hp2 others(5): Show HG01256.hp1 HG02630.hp1 HG02647.hp2 HG03453.hp2 HG03927.hp2 NA18943.hp1 NA18960.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0222 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0329 a0001c0001t0010g0354	8	358	0.0224	26	c.195 others(45): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS3_chr11_125888485_125908206	125901008	C C	CAGAAAAA others(19): Show CAGAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	450	0.0022	26	c.-47 others(43): Show c.-47+2161_-47+2162insTTTTTTTTTTTTTTTTTTTTTTTTCT	PUS3	ENSG00000110060.9	transcript	ENST00000227474.8	protein_coding	1/3			chr11	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG03453.hp2 HG00741.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0003 a0002c0002t0005	a0002c0002t0003g0008 a0002c0002t0005g0162 a0002c0002t0003g0008 a0002c0002t0005g0162	2	306	0.0065	26	c.11 others(39): Show c.11568_*11569insATATATATATATATATATTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	306	0.0033	26	c.11 others(39): Show c.11568_*11569insATATATATATATATATATATTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG01978.hp1 others(12): Show HG00738.hp2 HG01243.hp1 HG01978.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03834.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0043 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0147 a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0002g0303 a0001c0001t0003g0205 a0001c0004t0001g0093	15	350	0.0429	26	c.21 others(37): Show c.2188_*2213dupATATATATATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	350	0.0029	26	c.17 others(37): Show c.1713_*1714insATATATATATATATATATATATATTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456102	T T	TATATATA others(19): Show TATATATATATATATATATAAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02109.hp2 HG02280.hp2 others(2): Show HG01081.hp2 HG02109.hp2 HG02280.hp2 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0200 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0241 a0001c0004t0001g0093	5	350	0.0143	26	c.16 others(37): Show c.1687_*1688insTTATATTTATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		400		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456102	T T	TATATATA others(19): Show TATATATATATATATATATATATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	350	0.0029	26	c.16 others(37): Show c.1687_*1688insTTTTATATATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		400		chr7	TogoVar
PVR_chr19_44638910_44671162	44667617	T T	TATTTATA others(19): Show TATTTATATTATAAATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 NA20905.hp2 HG01192.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0186 a0001c0001t0005g0004 a0001c0001t0002g0186 a0001c0001t0005g0004	2	412	0.0049	26	c.58 others(37): Show c.5806_*5807insATTTATATTATAAATATATATATATA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1456		chr19	TogoVar
PWWP2A_chr5_160086339_160124450	160092013	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01516.hp1 others(12): Show HG00140.hp1 HG01243.hp1 HG01516.hp1 HG02258.hp1 HG02602.hp1 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03491.hp1 HG04184.hp1 NA18953.hp1 NA18964.hp2 NA18971.hp2 NA19006.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0009 a0001c0001t0019 a0001c0001t0022 others(3): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0022 a0001c0001t0034 a0001c0003t0009 a0001c0004t0030	a0001c0001t0009g0008 a0001c0001t0009g0022 a0001c0001t0009g0287 others(12): Show a0001c0001t0009g0008 a0001c0001t0009g0022 a0001c0001t0009g0287 a0001c0001t0009g0327 a0001c0001t0019g0050 a0001c0001t0019g0303 a0001c0001t0022g0321 a0001c0001t0022g0326 a0001c0001t0034g0242 a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 a0001c0003t0009g0243 a0001c0003t0009g0274 a0001c0004t0030g0332	15	384	0.0391	26	c.36 others(35): Show c.368_*369insATATATATATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	2/2	368		chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132403992	T T	TAGGACGG others(19): Show TAGGACGGCATTCTCCAGGGCTCCTGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp1 HG02132.hp2 others(3): Show HG01109.hp2 HG01358.hp1 HG02132.hp2 HG02273.hp2 NA19003.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0133 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0133 a0001c0001t0001g0224 a0001c0001t0001g0230	6	374	0.0160	26	c.126 others(41): Show c.126-568_126-543dupCCAGGGCTCCTGCAGGACGGCATTCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132404008	A A	AGGGCTCC others(19): Show AGGGCTCCTGCAGGACGGCATTCTTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01192.hp2 others(9): Show HG01069.hp1 HG01071.hp2 HG01192.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0003c0005t0001g0008 others(4): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0003c0005t0001g0008 a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0161 a0003c0005t0001g0257	12	374	0.0321	26	c.126 others(41): Show c.126-595_126-594insTCTGGGCTCCTGCAGGACGGCATTCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar

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